Biography
My career launched as a clinical researcher in the gene identification era, later evolved into leadership in medical education and research and finally has reached the exciting period where treatment is possible and undiagnosed patients are the focus. I graduated from Hacettepe University School of Medicine, Ankara, Turkey. In 2002, I completed my pediatrics residency and worked as chief resident at Ihsan Dogramaci Children’s Hospital at Hacettepe University. As a pediatric genetics fellow at Turkey's largest children's hospital, my primary interest shifted towards genetic bone diseases and skeletal dysplasias. In 2005, with the TUBITAK Postdoctoral Research Fellowship, I attended "UCLA-Cedars Sinai Medical Center Skeletal Dysplasia Fellowship Program” in Los Angeles, USA. Under the mentorship of Prof. David Rimoin in the clinic, Prof. Ralph Lachman in skeletal radiology, and Prof. Deborah Krakow in the laboratory, I worked on a gene discovery project that led to the discovery of a new gene (FKBP10 gene) inherited in an autosomal recessive manner in osteogenesis imperfecta, considered a milestone in understanding the intracellular mechanisms of this condition. Upon my return to Turkey in 2006, I established a "Skeletal Dysplasia Database" within the Pediatric Genetics Department. The registry enabled my team at Hacettepe to take part in multinational collaborations in gene identification research in the field of skeletal dysplasias. As a clinical geneticist and dysmorphologist, I joined the Multidisciplinary Craniofacial Team at Hacettepe. We established a cohort for undiagnosed craniofacial and craniosynostosis patients in collaboration with neurosurgeons and plastic and reconstructive surgeons. As a team we participated in the CRANIRARE Project (Joint Transnational Call 2007-JTC2007). I became an Associate Professor in 2008. In 2009, I received my Medical Genetics Doctorate (PhD). In 2010, I was awarded the "Hacettepe Science Promotion Award”. In 2011, I moved to Istanbul and joined Acıbadem University Faculty of Medicine and became a Full Professor in 2013. I served as the Dean of Medical School at Acibadem University between 2015-2022. I organized the International Skeletal Dysplasia Society (ISDS) meeting in Istanbul in 2015 and served as the Society's President for a term. Within the European Society of Human Genetics (ESHG), I served as a Board Member from 2012 to 2017 and as a member of the Scientific Program Committee from 2018 to 2021.
Education
2002 - 2011
2002 - 2011Post Doctorate of Medicine
Hacettepe University, Tıp Fakültesi (Türkçe), Dahili Tıp Bilimleri Bölümü, Turkey
2004 - 2009
2004 - 2009Doctorate
Hacettepe University, Sağlık Bilimleri Enstitüsü, Pediyatrik Temel Bilimler A.B.D., Turkey
2005 - 2006
2005 - 2006Post Doctorate
University of California, Los Angeles, Cedars-Sinai Medical Center, United States Of America
1997 - 2002
1997 - 2002Expertise In Medicine
Hacettepe University, Tıp Fakültesi (Türkçe), Turkey
1990 - 1996
1990 - 1996Undergraduate
Hacettepe University, Tıp Fakültesi (İngilizce), Turkey
Research Areas
Medicine
Internal Medicine Sciences
Child Health and Diseases
Pediatric Genetics and Teratology
Medical Genetics
Health Sciences
Academic Positions
2021 - Continues
2021 - ContinuesProfessor
Acibadem Mehmet Ali Aydinlar University, Graduate School Of Health Sciences, Department Of Genomic Studies
2020 - Continues
2020 - ContinuesProfessor
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
2013 - Continues
2013 - ContinuesProfessor
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
2011 - 2012
2011 - 2012Associate Professor
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
2008 - 2010
2008 - 2010Associate Professor
Hacettepe University, Tıp Fakültesi (Türkçe), Dahili Tıp Bilimleri Bölümü
2005 - 2008
2005 - 2008Assistant Professor
Hacettepe University, Tıp Fakültesi (Türkçe), Dahili Tıp Bilimleri Bölümü
2002 - 2005
2002 - 2005Expert
Hacettepe University, Tıp Fakültesi (Türkçe), Dahili Tıp Bilimleri Bölümü
Managerial Experience
2023 - Continues
2023 - ContinuesManager of Research and Application Center
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
2020 - Continues
2020 - ContinuesMember of Commissions Affiliated to the Rectorate
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
2020 - Continues
2020 - ContinuesMember of Commissions Affiliated to the Rectorate
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
2018 - Continues
2018 - ContinuesApplied Research Center Board Member
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
2015 - 2021
2015 - 2021Dean
Acibadem Mehmet Ali Aydinlar University, School Of Medicine, Department Of Medical Sciences
Journal articles indexed in SCI, SSCI, and AHCI
2025
2025A global survey about undiagnosed rare diseases: perspectives, challenges, and solutions
Baldovino S., Sciascia S., Carta C., Salvatore M., Cellai L. L., Ferrari G., et al.
FRONTIERS IN PUBLIC HEALTH
, vol.13, 2025 (SCI-Expanded)
2024
2024<i>BCL11B</i>-related disease: a single phenotypic entity?
Vedovato-dos-Santos J. H., Tooze R., Mccann E., Sithambaram S., ALANAY Y., Johnson D., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS
, pp.1559-1560, 2024 (SCI-Expanded)
2024
2024CFAP99 deficiency leads to heterotaxy and scoliosis
Ay B., Viviano S., AKGÜN DOĞAN Ö., ALANAY Y., Deniz E.
EUROPEAN JOURNAL OF HUMAN GENETICS
, pp.1747-1748, 2024 (SCI-Expanded)
2024
2024ITGB4-Related pyloric atresia without epidermolysis in two siblings.
Aliyeva L., Beken S., Mancilar H., Albayrak E., Korkmaz A., Tander B., et al.
European journal of medical genetics
, vol.72, pp.104971, 2024 (SCI-Expanded)
2024
2024Statistical analysis of genomic in-silico pathogenicity predictors for the characterization of VUS in rare and undiagnosed disorders
AYDIN E., Ergun B., AKGÜN DOĞAN Ö., ALANAY Y., HATIRNAZ NG Ö., ÖZDEMİR Ö.
EUROPEAN JOURNAL OF HUMAN GENETICS
, pp.1172, 2024 (SCI-Expanded)
2024
2024Impact of deep phenotyping: High diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center
AKGÜN DOĞAN Ö., Bengur E. T., Ay B., Ozkose G. S., Kar E., Bengur F. B., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS
, pp.1560, 2024 (SCI-Expanded)
2024
2024Statistical analysis of genomic in-silico pathogenicity predictors for the characterization of VUS in rare and undiagnosed disorders
AYDIN E., Ergun B., AKGÜN DOĞAN Ö., ALANAY Y., HATIRNAZ NG Ö., ÖZDEMİR Ö.
EUROPEAN JOURNAL OF HUMAN GENETICS
, pp.1172, 2024 (SCI-Expanded)
2024
2024CFAP99 deficiency leads to heterotaxy and scoliosis
Ay B., Viviano S., AKGÜN DOĞAN Ö., ALANAY Y., Deniz E.
EUROPEAN JOURNAL OF HUMAN GENETICS
, pp.1747-1748, 2024 (SCI-Expanded)
2024
2024Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon.
Delgado-Vega A. M., Cederroth H., Taylan F., Ekholm K., Ek M., Thonberg H., et al.
Nature genetics
, vol.56, no.11, pp.2287-2294, 2024 (SCI-Expanded)
2024
2024Real-world experience with vosoritide treatment in achondroplasia: A single-center report from Turkey
ABALI S., Ozkose G. S., AKGÜN DOĞAN Ö., DEMİRCİOĞLU S., ALANAY Y.
HORMONE RESEARCH IN PAEDIATRICS
, pp.348-349, 2024 (SCI-Expanded)
2024
2024Two new patients with acromesomelic dysplasia, PRKG2 type-identification and characterization of the first missense variant
AKGÜN DOĞAN Ö., Diaz-Gonzalez F., de Lima Jorge A. A., Onenli-Mungan N., Menezes Andrade N. L., de Polli Cellin L., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS
, vol.32, no.10, pp.1250-1256, 2024 (SCI-Expanded)
2024
2024PERSISTENT GROWTH-PROMOTING EFFECTS OF VOSORITIDE IN CHILDREN WITH ACHONDROPLASIA FOR UP TO 4 YEARS: UPDATE FROM PHASE 3 EXTENSION STUDY
Savarirayan R., Tofts L., Irving M., Wilcox W. R., Bacino C. A., Hoover-Fong J. E., et al.
HORMONE RESEARCH IN PAEDIATRICS
, pp.157-159, 2024 (SCI-Expanded)
2024
2024PERSISTENT GROWTH-PROMOTING EFFECTS OF VOSORITIDE IN CHILDREN WITH ACHONDROPLASIA IS ACCOMPANIED BY IMPROVEMENT IN PHYSICAL ASPECTS OF QUALITY OF LIFE
Savarirayan R., Tofts L., Irving M., Wilcox W. R., Bacino C. A., Hoover-Fong J. E., et al.
HORMONE RESEARCH IN PAEDIATRICS
, pp.167-169, 2024 (SCI-Expanded)
2024
2024GROWTH-PROMOTING EFFECTS OF VOSORITIDE IN CHILDREN WITH ACHONDROPLASIA AGED=10 YEARS AT TREATMENT INITIATION: RESULTS FROM A PHASE 3 EXTENSION STUDY
Savarirayan R., Tofts L., Irving M., Wilcox W. R., Bacino C. A., Harmatz P. R., et al.
HORMONE RESEARCH IN PAEDIATRICS
, pp.172-174, 2024 (SCI-Expanded)
2024
2024Rapid genome sequencing for critically ill infants: an inaugural pilot study from Turkey.
Guner Yilmaz B., Akgun-Dogan Ö., Ozdemir Ö., Yuksel B., Hatirnaz Ng Ö., Bilguvar K., et al.
Frontiers in pediatrics
, vol.12, pp.1412880, 2024 (SCI-Expanded)
2024
2024A Potentially Treatable Genetic Disorder Which Presented with Neuropsychiatric Involvement and Drug-Resistant Focal Epilepsy: Niemann-Pick Disease Type C
Altindag E., ALANAY Y., Baykan B., Dervent A.
NOROPSIKIYATRI ARSIVI-ARCHIVES OF NEUROPSYCHIATRY
, vol.61, no.2, pp.99-100, 2024 (SCI-Expanded)
2024
2024Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center
Akgün Doğan Ö., Bengur E. T., Ay B., Ozkose G. S., Kar E., Bengur F. B., et al.
FRONTIERS IN GENETICS
, vol.15, 2024 (SCI-Expanded)
2023
2023A new line method; A direct test in spinal muscular atrophy screening for DBS
Kubar A., Temel S. G., Beken S., Onder G., Hatirnaz Ö., Korkmaz A., et al.
Molecular Genetics and Genomic Medicine
, vol.11, no.12, 2023 (SCI-Expanded)
2023
2023An adolescent boy with PLS3 mutation causing severe thoracic kypho-scoliosis
Kilci F., JONES J. H., GÜRPINAR G., KOÇYİĞİT E., ÇAKIR Ö., CEYLANER S., et al.
HORMONE RESEARCH IN PAEDIATRICS
, pp.163, 2023 (SCI-Expanded)
2023
2023Treatment dilemma in a prepubertal patient with ACAN mutation but without advanced bone age
Kozler S. H., GÜRPINAR G., Kilci F., KOÇYİĞİT E., ALANAY Y., JONES J. H., et al.
HORMONE RESEARCH IN PAEDIATRICS
, pp.174-175, 2023 (SCI-Expanded)
2023
2023The clinical phenotype of Koolen-de Vries syndrome in Turkish patients and literature review
KARAMIK G., Tuysuz B., Isik E., Yilmaz A., ALANAY Y., Sunamak E. C., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.191, no.7, pp.1814-1825, 2023 (SCI-Expanded)
2023
2023Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 3.5 years: update from Phase 3 extension study
Polgreen L. E., Savarirayan R., Tofts L., Irving M., Wilcox W. W., Bacino C. A., et al.
HORMONE RESEARCH IN PAEDIATRICS
, no.SUPPL 3, pp.149-151, 2023 (SCI-Expanded)
2023
2023<i>DNAJC21</i>-related thrombocytopenia in a young adult female
ASLAN D., AKGÜN DOĞAN Ö., Ay B., ÇAMURDAN M. O., Mancilar H., ALANAY Y.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
, vol.193, no.2, pp.193-197, 2023 (SCI-Expanded)
2023
2023Real-world evidence in achondroplasia: considerations for a standardized data set
ALANAY Y., Mohnike K., Nilsson O., Alves I., AlSayed M., Appelman-Dijkstra N. M., et al.
ORPHANET JOURNAL OF RARE DISEASES
, no.1, 2023 (SCI-Expanded)
2023
2023Clinical Heterogeneity and Different Phenotypes in Patients with <i>SETD2</i> Variants: 18 New Patients and Review of the Literature
Parra A., Rabin R., Pappas J., Pascual P., Cazalla M., Arias P., et al.
GENES
, vol.14, no.6, 2023 (SCI-Expanded)
2023
2023Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients
Akalin A., Ozsin C., KOÇ N., Demir G. U., Alanay Y., ÜTİNE G. E., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS
, vol.66, no.4, 2023 (SCI-Expanded)
2023
2023Persistent and stable growth promoting effects of vosoritide in children with achondroplasia for up to 3.5 years: results from an ongoing Phase 3 extension study
Polgreen L. E., Savarirayan R., Tofts L., Irving M., Wilcox W., Bacino C. A., et al.
HORMONE RESEARCH IN PAEDIATRICS
, no.SUPPL 2, pp.28-29, 2023 (SCI-Expanded)
2023
2023Obstacles and expectations of rare disease patients and their families in Turkiye: ISTisNA project survey results
Hatirnaz Ng Ö., Sahin I., Erbilgin Y., Ozdemir Ö., Yucesan E., Erturk N., et al.
FRONTIERS IN PUBLIC HEALTH
, vol.10, 2023 (SCI-Expanded)
2023
2023Undiagnosed diseases: Needs and opportunities in 20 countries participating in the Undiagnosed Diseases Network International
Taruscio D., Salvatore M., Lumaka A., Carta C., Cellai L. L., Ferrari G., et al.
FRONTIERS IN PUBLIC HEALTH
, vol.11, 2023 (SCI-Expanded)
2023
2023Unmet needs in countries participating in the undiagnosed diseases network international: an international survey considering national health care and economic indicators
Sciascia S., Roccatello D., Salvatore M., Carta C., Cellai L. L., Ferrari G., et al.
FRONTIERS IN PUBLIC HEALTH
, vol.11, 2023 (SCI-Expanded)
2022
2022Growth parameters in children with achondroplasia: A 7-year, prospective, multinational, observational study
Savarirayan R., Irving M., Harmatz P., Delgado B., Wilcox W. R., Philips J., et al.
GENETICS IN MEDICINE
, vol.24, no.12, pp.2444-2452, 2022 (SCI-Expanded)
2022
2022Investigation of Genetic Causes in a Developmental Disorder: Oculoauriculovertebral Spectrum
GÜLERAY LAFCI N., KOŞUKCU C., Oguz S., Demir G. U., Taskiran E. Z., Kiper P. O. S., et al.
CLEFT PALATE-CRANIOFACIAL JOURNAL
, vol.59, no.9, pp.1114-1124, 2022 (SCI-Expanded)
2022
2022Defining mitochondrial protein functions through deep multiomic profiling
Rensvold J. W., Shishkova E., Sverchkov Y., Miller I. J., ÇETİNKAYA A., Pyle A., et al.
NATURE
, vol.606, pp.382-388, 2022 (SCI-Expanded)
2021
2021Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report
Bozkurt T., ALANAY Y., ISIK U., SEZERMAN O. U.
BMC MEDICAL GENOMICS
, vol.14, no.1, 2021 (SCI-Expanded)
2021
2021Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.
Simsek-Kiper P. O., Urel-Demir G., Taskiran E. Z., Arslan U. E., Nur B., Mihci E., et al.
Journal of human genetics
, vol.66, pp.585-596, 2021 (SCI-Expanded)
2021
2021Chondrodysplasia and growth failure in children after early hematopoietic stem cell transplantation for non-oncologic disorders
Botto L. D., Meeths M., Campos-Xavier B., Bergamaschi R., Mazzanti L., Scarano E., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.185, no.2, pp.517-527, 2021 (SCI-Expanded)
2021
2021Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
Bertoli-Avella A. M., Beetz C., Ameziane N., Rocha M. E., Guatibonza P., Pereira C., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS
, vol.29, no.1, pp.141-153, 2021 (SCI-Expanded)
2020
2020Whole Exome Sequencing of consanguineous families of clinically diagnosed with Neurodevelopmental Disorders
Turkgenc B., Yararbas K., Karakoyun H. K., Yesilyurt A., Gezdirici A., Tatli B., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS
, vol.28, no.SUPPL 1, pp.886-887, 2020 (SCI-Expanded)
2020
2020Clinical and Molecular Characterization of Fanconi Anemia Patients in Turkey
TOKSOY G., ULUDAĞ ALKAYA D., Bagirova G., Avci S., Aghayev A., Gunes N., et al.
MOLECULAR SYNDROMOLOGY
, vol.11, no.4, pp.183-196, 2020 (SCI-Expanded)
2020
2020Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D., Teinert J., Behne R., Wimmer M., D'Amore A., Eberhardt K., et al.
Brain : a journal of neurology
, vol.143, pp.2929-2944, 2020 (SCI-Expanded)
2020
2020Once-daily, subcutaneous vosoritide therapy in children with achondroplasia: a randomised, double-blind, phase 3, placebo-controlled, multicentre trial
Savarirayan R., Tofts L., Irving M., Wilcox W., Bacino C. A., Hoover-Fong J., et al.
LANCET
, vol.396, no.10252, pp.684-692, 2020 (SCI-Expanded)
2020
2020A Randomized Controlled Trial of Vosoritide in Children with Achondroplasia
Pogreen L., Savarirayan R., Tofts L., Rehab K., Irving M., Wilcox W., et al.
HORMONE RESEARCH IN PAEDIATRICS
, vol.93, pp.169-170, 2020 (SCI-Expanded)
2020
2020Recurrent hydatidiform mole: When to stop ?
ÖZBAŞLI E., TAKMAZ Ö., Gurkan H., ALANAY Y., GÜNGÖR M., DEDE F. S.
Clinical and Experimental Obstetrics and Gynecology
, vol.47, no.3, pp.424-426, 2020 (SCI-Expanded)
2020
2020The third family with TAF6-related phenotype: Alazami-Yuan syndrome
Tuc E., Bengur F. B., Aykut A., ŞAHİN Ö., ALANAY Y.
CLINICAL GENETICS
, vol.97, no.5, pp.795-796, 2020 (SCI-Expanded)
2019
2019Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome
Simsek-Kiper P. O., TAŞKIRAN Z. E., KOŞUKCU C., ARSLAN U. E., Cormier-Daire V., Gonc N., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.179, no.7, pp.1157-1172, 2019 (SCI-Expanded)
2019
2019The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
van der Sluijs P. J., Jansen S., Vergano S. A., Adachi-Fukuda M., ALANAY Y., AlKindy A., et al.
GENETICS IN MEDICINE
, vol.21, no.6, pp.1295-1307, 2019 (SCI-Expanded)
2019
2019p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype.
Bengur F., Ekmekci C., Karaarslan E., Gunoz H., Alanay Y.
European journal of medical genetics
, pp.103659, 2019 (SCI-Expanded)
2019
2019A possible founder mutation in FZD6 gene in a Turkish family with autosomal recessive nail dysplasia.
Saygi C., ALANAY Y., Sezerman U., Yenenler A., Ozoren N.
BMC medical genetics
, vol.20, pp.15, 2019 (SCI-Expanded)
2018
2018Epigenotype and phenotype correlations in patients with Beckwith-Wiedemann syndrome
Bilgin B., Kabacam S., TAŞKIRAN Z. E., Simsek-Kiper P. O., ALANAY Y., BODUROĞLU O. K., et al.
TURKISH JOURNAL OF PEDIATRICS
, vol.60, no.5, pp.506-513, 2018 (SCI-Expanded)
2018
2018Biallelic loss of human CTNNA2, encoding alpha N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration
Schaffer A. E., Breuss M. W., Caglayan A. O., Al-Sanaa N., Al-Abdulwahed H. Y., Kaymakcalan H., et al.
NATURE GENETICS
, vol.50, no.8, pp.1093-1107, 2018 (SCI-Expanded)
2018
2018Fragile x-associated premature ovarian failure in a large Turkish cohort: Findings of Hacettepe Fragile X Registry
ÜTİNE G. E., Simsek-Kiper P. O., Akgun-Dogan O., Urel-Demir G., ALANAY Y., Aktas D., et al.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
, vol.221, pp.76-80, 2018 (SCI-Expanded)
2018
2018Hematopoietic Stem Cell Transplantation for Myelodysplastic Syndrome in a Child With Klinefelter Syndrome
Serdaroglu E., KUŞKONMAZ B. B., ALANAY Y., AYTAÇ EYÜPOĞLU Ş. S., Cetin M., ÇETİNKAYA F. D.
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY
, vol.40, no.1, pp.81-82, 2018 (SCI-Expanded)
2018
2018Parieto-occipital alopecia in early infancy mandates cranial imaging
Tuc E., KARAARSLAN E., Celik I., ALANAY Y.
CLINICAL DYSMORPHOLOGY
, vol.27, no.1, pp.15-17, 2018 (SCI-Expanded)
2017
2017Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases
Ranza E., Huber C., Levin N., Baujat G., Bole-Feysot C., Nitschke P., et al.
CLINICAL GENETICS
, vol.91, no.6, pp.868-880, 2017 (SCI-Expanded)
2017
2017A Chaperone Complex Formed by HSP47, FKBP65, and BiP Modulates Telopeptide Lysyl Hydroxylation of Type I Procollagen
Duran I., Martin J. H., Weis M. A., Krejci P., Konik P., Li B., et al.
JOURNAL OF BONE AND MINERAL RESEARCH
, vol.32, no.6, pp.1309-1319, 2017 (SCI-Expanded)
2017
2017Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa
Van Damme T., Gardeitchik T., Mohamed M., Guerrero-Castillo S., Freisinger P., Guillemyn B., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, vol.100, no.2, pp.216-227, 2017 (SCI-Expanded)
2016
2016AUTS2 Syndrome in a 68-Year-Old Female: Natural History and Further Delineation of the Phenotype
Sengun E., Yararbas K., Kasakyan S., ALANAY Y.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.170, no.12, pp.3231-3236, 2016 (SCI-Expanded)
2016
2016Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type
Van Damme T., Colige A., Syx D., Giunta C., Lindert U., Rohrbach M., et al.
GENETICS IN MEDICINE
, vol.18, no.9, pp.882-891, 2016 (SCI-Expanded)
2016
2016Is 1p36 Deletion Associated with Anterior Body Wall Defects?
Collu M., Yuksel Ş., Sirin B. K., Abbasoglu L., ALANAY Y.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.170, no.7, pp.1889-1894, 2016 (SCI-Expanded)
2016
2016Three cases of spondyloenchondrodysplasia (SPENCD) with systemic lupus erythematosus: a case series and review of the literature
BİLGİNER Y., DÜZOVA A., TOPALOĞLU R., BATU AKAL E. D., BODUROĞLU O. K., Gucer S., et al.
LUPUS
, vol.25, no.7, pp.760-765, 2016 (SCI-Expanded)
2016
2016Late Sequel of Meningococcemia: Skeletal Dysplasia
Karabulut G. S., Acar T., Yuksel A. B., ALANAY Y., Hatun S.
JOURNAL OF PEDIATRICS
, vol.173, pp.264-266, 2016 (SCI-Expanded)
2016
2016Nonsense Mutation in SPARC Gene Causing Autosomal Recessive Ostegenesis Imperfecta
Abali S., ARMAN A., Atay Z., Bas S., Cam S., Gormez Z., et al.
HORMONE RESEARCH IN PAEDIATRICS
, vol.86, pp.167, 2016 (SCI-Expanded)
2016
2016Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome.
Aka S., ALANAY Y., Boodhansingh K. E., Stanley C. A., Semiz S.
The Turkish journal of pediatrics
, vol.58, no.5, pp.541-544, 2016 (SCI-Expanded)
2016
2016Intrauterine Imaging Strategies for Bone Disease
Alanay Y.
HORMONE RESEARCH IN PAEDIATRICS
, vol.86, pp.13, 2016 (SCI-Expanded)
2016
2016Chromosome 22q12.1 microdeletions: confirmation of the MN1 gene as a candidate gene for cleft palate
Breckpot J., Anderlid B., ALANAY Y., Blyth M., Brahimi A., Duban-Bedu B., et al.
EUROPEAN JOURNAL OF HUMAN GENETICS
, vol.24, no.1, pp.51-58, 2016 (SCI-Expanded)
2015
2015Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype
Bakar O., Isik U., Canpolat C., ALANAY Y.
PEDIATRIC DERMATOLOGY
, vol.32, no.6, 2015 (SCI-Expanded)
2015
2015RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome
Boegershausen N., Tsai I., Pohl E., Kiper P. O. S., Beleggia F., PERÇİN F. E., et al.
JOURNAL OF CLINICAL INVESTIGATION
, vol.125, no.9, pp.3585-3599, 2015 (SCI-Expanded)
2015
2015Experience of a Skeletal Dysplasia Registry in Turkey: A Five-Years Retrospective Analysis
Kurt-Sukur E. D., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., Boduroglu K., Alanay Y.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.167, no.9, pp.2065-2074, 2015 (SCI-Expanded)
2015
2015Novel MASP1 mutations are associated with an expanded phenotype in 3MC1 syndrome
Atik T., Koparir A., Bademci G., Foster J., Altunoglu U., Mutlu G. Y., et al.
ORPHANET JOURNAL OF RARE DISEASES
, vol.10, 2015 (SCI-Expanded)
2015
2015Mutations in LONP1, a Mitochondrial Matrix Protease, Cause CODAS Syndrome
Dikoglu E., Alfaiz A., Gorna M., Bertola D., Chae J. H., Cho T., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.167, no.7, pp.1501-1509, 2015 (SCI-Expanded)
2015
2015Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes
Bramswig N. C., Luedecke H., ALANAY Y., Albrecht B., Barthelmie A., BODUROĞLU O. K., et al.
HUMAN GENETICS
, vol.134, no.6, pp.553-568, 2015 (SCI-Expanded)
2015
2015Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3
Chong J. X., Burrage L. C., Beck A. E., Marvin C. T., McMillin M. J., Shively K. M., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, vol.96, no.5, pp.841-849, 2015 (SCI-Expanded)
2015
2015A Study of the Clinical and Radiological Features in a Cohort of 93 Patients with a COL2A1 Mutation Causing Spondyloepiphyseal Dysplasia Congenita or a Related Phenotype
Terhal P. A., Nievelstein R. J. A. J., Verver E. J. J., Topsakal V., van Dommelen P., Hoornaert K., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.167, no.3, pp.461-475, 2015 (SCI-Expanded)
2015
2015Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy
Simons C., Rash L. D., Crawford J., Ma L., Cristofori-Armstrong B., Miller D., et al.
NATURE GENETICS
, vol.47, no.1, pp.73-78, 2015 (SCI-Expanded)
2015
2015A VARIANT CASE OF 6p24 DELETION SYNDROME (OMIM #612582)
Ergin R. N., Cigerciogullari E., Alanay Y., Yayla M.
GENETIC COUNSELING
, vol.26, no.2, pp.237-241, 2015 (SCI-Expanded)
2014
2014Prepubertal Unilateral Gynecomastia: Report of 2 Cases
Demirbilek H., Bacak G., Baran R. T., Avci Y., Baran A., Keles A., et al.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
, vol.6, no.4, pp.250-253, 2014 (SCI-Expanded)
2014
2014Partial monosomy 3q26.33-3q27.3 presenting with intellectual disability, facial dysmorphism, and diaphragm eventration: a case report
Sahin Y., Kiper P. O., ALANAY Y., Liehr T., ÜTİNE G. E., BODUROĞLU O. K.
CLINICAL DYSMORPHOLOGY
, vol.23, no.4, pp.147-151, 2014 (SCI-Expanded)
2014
2014A case of fucosidosis type II: diagnosed with dysmorphological and radiological findings
KILIÇ E., KILIÇ M., ÜTİNE G. E., Sivri S., COŞKUN T., ALANAY Y.
TURKISH JOURNAL OF PEDIATRICS
, vol.56, no.4, pp.430-433, 2014 (SCI-Expanded)
2014
2014Etiological yield of SNP microarrays in idiopathic intellectual disability
ÜTİNE G. E., Haliloglu G., Volkan-Salanci B., ÇETİNKAYA A., Kiper P. O., ALANAY Y., et al.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
, vol.18, no.3, pp.327-337, 2014 (SCI-Expanded)
2014
2014Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features
ARMAN A., BEREKET A., Coker A., Kiper P. O. S., GÜRAN T., Ozkan B., et al.
ORPHANET JOURNAL OF RARE DISEASES
, vol.9, 2014 (SCI-Expanded)
2014
2014Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects
ŞAHİNER Ü. M., ALANAY Y., ALEHAN D., TUNÇBİLEK E., ALİKAŞİFOĞLU M.
PEDIATRICS INTERNATIONAL
, vol.56, no.2, pp.167-172, 2014 (SCI-Expanded)
2014
2014XYLT1 Mutations in Desbuquois Dysplasia Type 2
BUI C., HUBER C., Tuysuz B., ALANAY Y., Bole-Feysot C., LEROY J. G., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, vol.94, no.3, pp.405-414, 2014 (SCI-Expanded)
2014
2014Report of a Patient With Temple-Baraitser Syndrome
YEŞİL G., Guler S., Yuksel A., ALANAY Y.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.164, no.3, pp.848-851, 2014 (SCI-Expanded)
2014
2014Celiac disease in Williams-Beuren syndrome
Simsek-Kiper P. O., Sahin Y., Arslan U., ALANAY Y., BODUROĞLU O. K., ORHAN D., et al.
TURKISH JOURNAL OF PEDIATRICS
, vol.56, no.2, pp.154-159, 2014 (SCI-Expanded)
2014
2014Striking Hematological Abnormalities in Patients With Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II): A Potential Role of Pericentrin in Hematopoiesis
ÜNAL S., ALANAY Y., Cetin M., BODUROĞLU O. K., Utine E., Cormier-Daire V., et al.
PEDIATRIC BLOOD & CANCER
, vol.61, no.2, pp.302-305, 2014 (SCI-Expanded)
2014
2014TMCO1 Deficiency Causes Autosomal Recessive Cerebrofaciothoracic Dysplasia
ALANAY Y., Erguner B., Utine E., Hacariz O., ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.164, no.2, pp.291-304, 2014 (SCI-Expanded)
2014
2014Neurochemical Evaluation of Brain Function With H-1 Magnetic Resonance Spectroscopy in Patients With Fragile X Syndrome
ÜTİNE G. E., Akpinar B., ARSLAN U. E., Kiper P. O. S., Volkan-Salanci B., ALANAY Y., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.164, no.1, pp.99-105, 2014 (SCI-Expanded)
2014
2014A de novo 11q23 deletion in a patient presenting with severe ophthalmologic findings, psychomotor retardation and facial dysmorphism
Simsek-Kiper P. O., Bayram Y., ÜTİNE G. E., ALANAY Y., BODUROĞLU O. K.
TURKISH JOURNAL OF PEDIATRICS
, vol.56, no.1, pp.80-84, 2014 (SCI-Expanded)
2014
2014PARENTAL FACTORS IN PRENATAL DECISION MAKING AND THE IMPACT OF PRENATAL GENETIC COUNSELING: A STUDY ON TURKISH FAMILIES
Simsek-Kiper P. O., ÜTİNE G. E., Volkan-Salanci B., ALANAY Y., Aktas D., ALİKAŞİFOĞLU M., et al.
GENETIC COUNSELING
, vol.25, no.1, pp.53-62, 2014 (SCI-Expanded)
2013
2013A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
Wieczorek D., Boegershausen N., Beleggia F., Steiner-Haldenstaett S., Pohl E., Li Y., et al.
HUMAN MOLECULAR GENETICS
, vol.22, no.25, pp.5121-5135, 2013 (SCI-Expanded)
2013
2013Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations
Iida A., Simsek-Kiper P. O., Mizumoto S., Hoshino T., ELÇİOĞLU H. N., Horemuzova E., et al.
HUMAN MUTATION
, vol.34, no.10, pp.1381-1386, 2013 (SCI-Expanded)
2013
2013Three Patients Resembling Teebi-Shaltout Syndrome
Aldemir O., Ozen S., Erdem S., Kiraz A., Akarsu N., ALANAY Y.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.161, no.10, pp.2570-2575, 2013 (SCI-Expanded)
2013
2013Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome
Czeschik J. C., Voigt C., Alanay Y., Albrecht B., Avci S., FitzPatrick D., et al.
HUMAN GENETICS
, vol.132, no.8, pp.885-898, 2013 (SCI-Expanded)
2013
2013A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy
Ütine G. E., Haliloglu G., Volkan Salancı B., Çetinkaya A., Şimşek Kiper P. Ö., Alanay Y., et al.
JOURNAL OF CHILD NEUROLOGY
, vol.28, no.7, pp.926-932, 2013 (SCI-Expanded)
2013
2013Microdeletions at 1q21.1 and 2q24.2 in a Patient with Developmental Delay and Dysmorphic Features
ÜTİNE G. E., ŞİMŞEK KİPER P. Ö., ALANAY Y., BODUROĞLU O. K.
CHROMOSOME RESEARCH
, vol.21, 2013 (SCI-Expanded)
2013
2013STRIKING HEMATOLOGICAL ABNORMALITIES IN PATIENTS WITH MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE II MAY INDICATE A POTENTIAL ROLE OF PERICENTRIN GENE IN HEMATOPOIESIS
ÜNAL S., Cetin M., ALANAY Y., BODUROĞLU O. K., Utine E., Kilic E., et al.
HAEMATOLOGICA
, vol.98, pp.578, 2013 (SCI-Expanded)
2013
2013Functional analysis of a duplication (p.E63_D69dup) in the switch II region of HRAS: new aspects of the molecular pathogenesis underlying Costello syndrome
Lorenz S., Lissewski C., Simsek-Kiper P. O., ALANAY Y., Boduroglu K., Zenker M., et al.
HUMAN MOLECULAR GENETICS
, vol.22, no.8, pp.1643-1653, 2013 (SCI-Expanded)
2013
2013Clinical and molecular analysis of RASopathies in a group of Turkish patients
Simsek-Kiper P. O., ALANAY Y., GÜLHAN B., Lissewski C., Turkyilmaz D., ALEHAN D., et al.
CLINICAL GENETICS
, vol.83, no.2, pp.181-186, 2013 (SCI-Expanded)
2013
2013Laboratory Genetic Testing in Clinical Practice
ÇOĞULU M. Ö., ALANAY Y., Toruner G. A.
BIOMED RESEARCH INTERNATIONAL
, vol.2013, 2013 (SCI-Expanded)
2012
2012A severity affected case with Schimke immuno-osseous dysplasia
Candan C., Yilmaz Y., ALANAY Y., Turhan P., Candan F., Erguven M.
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
, vol.47, no.4, pp.319-321, 2012 (SCI-Expanded)
2012
2012Further characterization of ATP6V0A2-related autosomal recessive cutis laxa
Fischer B., Dimopoulou A., Egerer J., Gardeitchik T., Kidd A., Jost D., et al.
HUMAN GENETICS
, vol.131, no.11, pp.1761-1773, 2012 (SCI-Expanded)
2012
2012Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II)
KILIÇ E., Utine E., ÜNAL S., Haliloglu G., Oguz K. K., Cetin M., et al.
EUROPEAN JOURNAL OF PEDIATRICS
, vol.171, no.10, pp.1567-1571, 2012 (SCI-Expanded)
2012
2012MRI findings of intracranial malformations in a case with Fraser syndrome
Yesilkaya Y., HIZAL M., Oguz K. K., ALANAY Y.
CLINICAL DYSMORPHOLOGY
, vol.21, no.4, pp.234-236, 2012 (SCI-Expanded)
2012
2012IMPAD1 Mutations in Two Catel-Manzke Like Patients
Nizon M., ALANAY Y., Tuysuz B., Kiper P. O. S., Genevieve D., Sillence D., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.158A, no.9, pp.2183-2187, 2012 (SCI-Expanded)
2012
2012Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis
Nizon M., Huber C., De Leonardis F., Merrina R., Forlino A., Fradin M., et al.
HUMAN MUTATION
, vol.33, no.8, pp.1261-1266, 2012 (SCI-Expanded)
2012
2012The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): A review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals
Segarra N. G., Mittaz L., Campos-Xavier A. B., Bartels C. F., Tuysuz B., ALANAY Y., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
, vol.160C, no.3, pp.217-229, 2012 (SCI-Expanded)
2012
2012Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia
SIMON M., Campos-Xavier A. B., Mittaz-Crettol L., VALADARES E. R., CARVALHO D., SPECK-MARTINS C. E., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
, vol.160C, no.3, pp.230-237, 2012 (SCI-Expanded)
2012
2012Wiedemann-Rautenstrauch syndrome: Report of a variant case
Kiraz A., Ozen S., TUBAŞ F., Usta Y., Aldemir O., ALANAY Y.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.158A, no.6, pp.1434-1436, 2012 (SCI-Expanded)
2012
2012Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity
Daniel P. B., Morgan T., ALANAY Y., Bijlsma E., Cho T., Cole T., et al.
HUMAN MUTATION
, vol.33, no.4, pp.665-673, 2012 (SCI-Expanded)
2012
2012Arterial tortuosity and aneurysm in a case of Loeys-Dietz syndrome type IB with a mutation p.R537P in the TGFBR2 gene
KILIÇ E., ALANAY Y., Utine E., ÖZGEN MOCAN B., Robinson P. N., BODUROĞLU O. K.
TURKISH JOURNAL OF PEDIATRICS
, vol.54, no.2, pp.198-202, 2012 (SCI-Expanded)
2012
2012Haploinsufficiency of a Spliceosomal GTPase Encoded by EFTUD2 Causes Mandibulofacial Dysostosis with Microcephaly
Lines M. A., Huang L., Schwartzentruber J., Douglas S. L., Lynch D. C., Beaulieu C., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, vol.90, no.2, pp.369-377, 2012 (SCI-Expanded)
2012
2012Hypophosphatasia Presenting with Pyridoxine-Responsive Seizures, Hypercalcemia, and Pseudotumor Cerebri: Case Report
DEMİRBİLEK H., ALANAY Y., Alikasifoglu A., Topcu M., Mornet E., Gonc N., et al.
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
, vol.4, no.1, pp.34-38, 2012 (SCI-Expanded)
2011
2011A review of the principles of radiological assessment of skeletal dysplasias
ALANAY Y., Lachman R. S.
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, vol.3, no.4, pp.163-178, 2011 (SCI-Expanded)
2011
2011A mutation screen in patients with Kabuki syndrome
Li Y., Boegershausen N., ALANAY Y., ŞİMŞEK KİPER P. Ö., Plume N., Keupp K., et al.
HUMAN GENETICS
, vol.130, no.6, pp.715-724, 2011 (SCI-Expanded)
2011
2011Craniosynostosis and Multiple Skeletal Anomalies in Humans and Zebrafish Result from a Defect in the Localized Degradation of Retinoic Acid
Laue K., Pogoda H., Daniel P. B., van Haeringen A., ALANAY Y., von Ameln S., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, vol.89, no.5, pp.595-606, 2011 (SCI-Expanded)
2011
2011Catel-Manzke Syndrome: A Clinical Report Suggesting Autosomal Recessive Inheritance
ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., BODUROĞLU O. K., ALANAY Y.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, no.9, pp.2288-2292, 2011 (SCI-Expanded)
2011
2011Beals Hecht Syndrome-Arthrogryposis Multiplex Congenita-Congenital Arachnodactyly: Case Report
Gokkaya N. K. O., Ucan H., Uckun A. C., ALANAY Y.
TURKIYE FIZIKSEL TIP VE REHABILITASYON DERGISI-TURKISH JOURNAL OF PHYSICAL MEDICINE AND REHABILITATION
, vol.57, no.3, pp.178-181, 2011 (SCI-Expanded)
2011
2011A rare case of 2q37 microdeletion with Albright hereditary osteodystrophy-like phenotype
ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ALANAY Y., Aktas D., ALİKAŞİFOĞLU M., BODUROĞLU O. K.
TURKISH JOURNAL OF PEDIATRICS
, vol.53, no.5, pp.558-560, 2011 (SCI-Expanded)
2011
2011Spondyloenchondrodysplasia: a rare cause of short stature
Yesiltepe-Mutlu G., ÖZSU CAVGA E., ÇİZMECİOĞLU JONES F. M., ALANAY Y., Hatun S.
TURKISH JOURNAL OF PEDIATRICS
, vol.53, no.4, pp.464-466, 2011 (SCI-Expanded)
2011
2011Mutations in the TGF beta Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
Le Goff C., Mahaut C., Wang L. W., Allali S., Abhyankar A., Jensen S., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, vol.89, no.1, pp.7-14, 2011 (SCI-Expanded)
2011
2011Rapid prenatal diagnosis of common aneuploidies by QF-PCR in the Turkish population
Aktas D., Kutukcu B., Bayram Y., ÜTİNE G. E., ALANAY Y., ÖZYÜNCÜ Ö., et al.
CHROMOSOME RESEARCH
, vol.19, 2011 (SCI-Expanded)
2011
2011KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Putoux A., Thomas S., Coene K. L. M., Davis E. E., ALANAY Y., Ogur G., et al.
NATURE GENETICS
, vol.43, no.6, pp.601-607, 2011 (SCI-Expanded)
2011
2011Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
Allali S., Le Goff C., Pressac-Diebold I., Pfennig G., Mahaut C., Dagoneau N., et al.
JOURNAL OF MEDICAL GENETICS
, vol.48, no.6, pp.417-421, 2011 (SCI-Expanded)
2011
2011Spondyloenchondrodysplasia with Systemic Lupus Erythematosus: a report of three cases
BİLGİNER Y., ALANAY Y., DÜZOVA A., TOPALOĞLU R., Superti-Furga A., ÖZEN S., et al.
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
, vol.29, no.2, pp.430, 2011 (SCI-Expanded)
2011
2011Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity
Lausch E., Janecke A., Bros M., Trojandt S., ALANAY Y., De Laet C., et al.
NATURE GENETICS
, vol.43, no.2, pp.132-139, 2011 (SCI-Expanded)
2011
2011PHENOTYPICAL PROPERTIES AND RESPONSE TO CHOLESTEROL THERAPY OF SMITH-LEMLI-OPITZ SYNDROME CASES
Kilic M., Tokatli A., ALANAY Y., Kilic E., Kalkanoglu-Sivri H. S., DURSUN A., et al.
JOURNAL OF INHERITED METABOLIC DISEASE
, vol.34, 2011 (SCI-Expanded)
2011
2011OPINIONS OF TURKISH PHYSICIANS TOWARDS TERMINATION OF PREGNANCY FOR FETAL DISORDERS
Utine G. E., Kiper P. O., Salanci B. V., ALANAY Y., Aktas D., Alikasifoglu M., et al.
GENETIC COUNSELING
, vol.22, no.4, pp.401-409, 2011 (SCI-Expanded)
2010
2010Cervical Spine Dysmorphism: Report of Two Unusual Cases of Craniovertebral Junction
Daglioglu E., ALANAY Y., Ozdol C., Okay O., Dalgic A., Belen D.
TURKIYE KLINIKLERI TIP BILIMLERI DERGISI
, vol.30, no.6, pp.2052-2056, 2010 (SCI-Expanded)
2010
2010Intracranial and Extracranial Malformations in Patients With Craniofacial Anomalies
Tuncbilek G., ALANAY Y., UZUN H., Kayikcioglu A., AKARSU A. N., Benli K.
JOURNAL OF CRANIOFACIAL SURGERY
, vol.21, no.5, pp.1460-1464, 2010 (SCI-Expanded)
2010
2010FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification? Response
ALANAY Y., Krakow D.
AMERICAN JOURNAL OF HUMAN GENETICS
, vol.87, no.2, pp.308, 2010 (SCI-Expanded)
2010
2010Disruption of ALX1 Causes Extreme Microphthalmia and Severe Facial Clefting: Expanding the Spectrum of Autosomal-Recessive ALX-Related Frontonasal Dysplasia
Uz E., ALANAY Y., Aktas D., Vargel I., Gucer S., Tuncbilek G., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, vol.86, no.5, pp.789-796, 2010 (SCI-Expanded)
2010
2010Cowden syndrome with bronchial asthma
ÖZSÜREKCİ Y., Yavuz S. T., ALANAY Y., ÜTİNE G. E., Kalayci O.
TURKISH JOURNAL OF PEDIATRICS
, vol.52, no.3, pp.330-332, 2010 (SCI-Expanded)
2010
2010A Second Patient With Tsukahara Syndrome: Type A1 Brachydactyly, Short Stature, Hearing Loss, Microcephaly, Mental Retardation, and Ptosis
ÜTİNE G. E., Breckpot J., Thienpont B., ALANAY Y., Aksoy C., BODUROĞLU O. K., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, no.4, pp.947-949, 2010 (SCI-Expanded)
2010
2010Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta
ALANAY Y., Avaygan H., Camacho N., ÜTİNE G. E., BODUROĞLU O. K., Aktas D., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, vol.86, no.4, pp.551-559, 2010 (SCI-Expanded)
2010
2010A Variant of Desbuquois Dysplasia Characterized by Advanced Carpal Bone Age, Short Metacarpals, and Elongated Phalanges: Report of Seven Cases
Kim O., Nishimura G., Song H., Matsui Y., Sakazume S., Yamada M., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, no.4, pp.875-885, 2010 (SCI-Expanded)
2010
2010Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene
Gok F., Crettol L. M., ALANAY Y., Hacihamdioglu B., Kocaoglu M., Bonafe L., et al.
EUROPEAN JOURNAL OF PEDIATRICS
, vol.169, no.3, pp.363-367, 2010 (SCI-Expanded)
2010
2010Disruption of the Podosome Adaptor Protein TKS4 (SH3PXD2B) Causes the Skeletal Dysplasia, Eye, and Cardiac Abnormalities of Frank-Ter Haar Syndrome
Iqbal Z., Cejudo-Martin P., de Brouwer A., van der Zwaag B., Ruiz-Lozano P., Scimia M. C., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, vol.86, no.2, pp.254-261, 2010 (SCI-Expanded)
2010
2010Hemihyperplasia-multiple lipomatosis syndrome: an underdiagnosed entity in children with asymmetric overgrowth
Boybeyi Ö., ALANAY Y., Kayikcioglu A., KARNAK İ.
JOURNAL OF PEDIATRIC SURGERY
, vol.45, no.1, 2010 (SCI-Expanded)
2010
2010OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels
Huber C., Fradin M., Edouard T., Le Merrer M., Alanay Y., Da Silva D. B., et al.
Human Mutation
, vol.31, no.1, pp.20-26, 2010 (SCI-Expanded)
2009
2009Homozygous Inactivating Mutations in the NKX3-2 Gene Result in Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
HELLEMANS J., SIMON M., DHEEDENE A., ALANAY Y., MIHÇI E., RIFAI L., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, vol.85, no.6, pp.916-922, 2009 (SCI-Expanded)
2009
2009ALX4 dysfunction disrupts craniofacial and epidermal development
Kayserili H., Uz E., Niessen C., VARGEL İ., ALANAY Y., Tuncbilek G., et al.
HUMAN MOLECULAR GENETICS
, vol.18, no.22, pp.4357-4366, 2009 (SCI-Expanded)
2009
2009Identification of CANT1 Mutations in Desbuquois Dysplasia
Huber C., Oules B., Bertoli M., Chami M., Fradin M., ALANAY Y., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, vol.85, no.5, pp.706-710, 2009 (SCI-Expanded)
2009
2009Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia
Turkkani-Asal G., ALANAY Y., Turul-Ozgur T., Zenker M., Thiel C., Rauch A., et al.
TURKISH JOURNAL OF PEDIATRICS
, vol.51, no.5, pp.493-496, 2009 (SCI-Expanded)
2009
2009Infantile Systemic Hyalinosis: A Case Report
Gunduz O., ERSOY EVANS S., BODUROĞLU O. K., ALANAY Y., Ozkaya O.
TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY
, vol.43, no.3, pp.112-115, 2009 (SCI-Expanded)
2009
2009Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases
Furuichi T., Kayserili H., Hiraoka S., Nishimura G., Ohashi H., ALANAY Y., et al.
JOURNAL OF MEDICAL GENETICS
, vol.46, no.8, pp.562-568, 2009 (SCI-Expanded)
2009
2009Wilms Tumor, AML and Medulloblastoma in a Child With Cancer Prone Syndrome of Total Premature Chromatid Separation and Fanconi Anemia
Sari N., AKYÜZ C., Aktas D., GÜMRÜK F., ORHAN D., ALİKAŞİFOĞLU M., et al.
PEDIATRIC BLOOD & CANCER
, vol.53, no.2, pp.208-210, 2009 (SCI-Expanded)
2009
2009Le Fort III Bipartition Osteotomy to Treat a Rare Craniofacial Anomaly: Frontofacionasal Dysostosis
Tuncbilek G., ALANAY Y., Kayikcioglu A.
JOURNAL OF CRANIOFACIAL SURGERY
, vol.20, no.4, pp.1056-1058, 2009 (SCI-Expanded)
2009
2009Partial Distal Aphalangia, Duplication of Metatarsal IV, Microcephaly and Borderline Intelligence: A Third Patient Suggesting Autosomal Recessive Inheritance
ÜTİNE G. E., ALANAY Y., Aktas D., ALİKAŞİFOĞLU M., BODUROĞLU O. K.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, no.6, pp.1317-1318, 2009 (SCI-Expanded)
2009
2009Rare sex chromosome aneuploidies: 49,XXXXY and 48,XXXY syndromes
Simsek P. O., ÜTİNE G. E., ALİKAŞİFOĞLU A., ALANAY Y., BODUROĞLU O. K., Kandemir N.
TURKISH JOURNAL OF PEDIATRICS
, vol.51, no.3, pp.294-297, 2009 (SCI-Expanded)
2009
2009Subtelomeric rearrangements in mental retardation: Hacettepe University experience in 130 patients
ÜTİNE G. E., Celik T., ALANAY Y., ALİKAŞİFOĞLU M., BODUROĞLU O. K., Tuncbilek E., et al.
TURKISH JOURNAL OF PEDIATRICS
, vol.51, no.3, pp.199-206, 2009 (SCI-Expanded)
2009
2009PORCN Mutations in Focal Dermal Hypoplasia: Coping with Lethality
Bornholdt D., Oeffner F., Koenig A., Happle R., ALANAY Y., Ascherman J., et al.
HUMAN MUTATION
, vol.30, no.5, 2009 (SCI-Expanded)
2009
2009TBX15 mutations cause craniofacial dysmorphism, hypoplasia of scapula and pelvis, and short stature in cousin syndrome
Lausch E., Hermanns P., Farin H., ALANAY Y., Unger S., Nikkel S., et al.
EUROPEAN JOURNAL OF PEDIATRICS
, vol.168, no.3, pp.379, 2009 (SCI-Expanded)
2009
2009A new autosomal dominant Peters' anomaly phenotype expanding the anterior segment dysgenesis spectrum
Berker N., ALANAY Y., Elgin U., Volkan-Salanci B., ŞİMŞEK T., AKARSU A. N., et al.
ACTA OPHTHALMOLOGICA
, vol.87, no.1, pp.52-57, 2009 (SCI-Expanded)
2008
2008Cyclic pamidronate treatment in Bruck syndrome: Proposal of a new modality of treatment
Andiran N., ALİKAŞİFOĞLU A., ALANAY Y., YORDAM N.
PEDIATRICS INTERNATIONAL
, vol.50, no.6, pp.836-838, 2008 (SCI-Expanded)
2008
2008TBX15 Mutations Cause Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature in Cousin Syndrome
Lausch E., Hermanns P., Farin H. F., ALANAY Y., Unger S., Nikkel S., et al.
AMERICAN JOURNAL OF HUMAN GENETICS
, vol.83, no.5, pp.649-655, 2008 (SCI-Expanded)
2008
2008Unilateral Peters' anomaly in an infant with 22q11.2 deletion syndrome
Erdogan M. K., ÜTİNE G. E., ALANAY Y., Aktas D.
CLINICAL DYSMORPHOLOGY
, vol.17, no.4, pp.289-290, 2008 (SCI-Expanded)
2008
2008Evaluation of prenatal-onset osteochondrodysplasias by ultrasonography: A retrospective and prospective analysis
Krakow D., ALANAY Y., Rimoin L. P., Lin V., Wilcox W. R., Lachman R. S., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, no.15, pp.1917-1924, 2008 (SCI-Expanded)
2008
2008Cryptic trisomy 5q35.2qter and deletion 1p36.3 characterised using FISH and array-based CGH
Utine E. G., ALANAY Y., Aktas D., ALİKAŞİFOĞLU M., BODUROĞLU O. K., Vermeesch J., et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS
, vol.51, no.4, pp.343-350, 2008 (SCI-Expanded)
2008
2008Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance
ÜTİNE G. E., ALANAY Y., Aktas D., TALİM B., Kale G., Tuncbilek E.
TURKISH JOURNAL OF PEDIATRICS
, vol.50, no.3, pp.287-290, 2008 (SCI-Expanded)
2008
2008Clinical and radiographic delineation of odontochondrodysplasia
Unger S., Antoniazzi F., Brugnara M., ALANAY Y., ÇAĞLAYAN A. O., Lachlan K., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.146A, no.6, pp.770-778, 2008 (SCI-Expanded)
2008
2008KABUKI SYNDROME AND TRISOMY 10p
Utine G. E., ALANAY Y., Aktas D., BODUROĞLU O. K., Alikasifoglu M., Tuncbilek E.
GENETIC COUNSELING
, vol.19, no.3, pp.291-300, 2008 (SCI-Expanded)
2007
2007Dynamic cervicomedullary cord compression and alterations in cerebrospinal fluid dynamics in children with achondroplasia: Report of four cases
Danielpour M., Wilcox W. R., Alanay Y., Pressman B. D., Rimoin D. L.
Journal of Neurosurgery
, vol.107, pp.504-507, 2007 (SCI-Expanded)
2007
2007Distal partial trisomy 1q: report of two cases and a review of the literature
Utine G. E., Aktas D., ALANAY Y., Guecer S., Tuncbilek E., Mrasek K., et al.
PRENATAL DIAGNOSIS
, vol.27, no.9, pp.865-871, 2007 (SCI-Expanded)
2007
2007Infantile systemic hyalinosis, a case report
Gunduz O., Evans S. E., Boduroglu K., ALANAY Y., Ozkaya O.
VIRCHOWS ARCHIV
, vol.451, no.2, pp.535, 2007 (SCI-Expanded)
2007
2007Cavernous malformation with Poland-Mijbius syndrome - Case illustration
MUT AŞKUN M., Palaoglu S., ALANAY Y., Ismailoglu O., Tuncbilek E.
JOURNAL OF NEUROSURGERY
, vol.107, no.1, pp.79, 2007 (SCI-Expanded)
2007
2007Angulated femurs and the skeletal dysplasias: Experience of the International Skeletal Dysplasia Registry (1988-2006)
ALANAY Y., Krakow D., Rimoin D. L., Lachman R. S.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, no.11, pp.1159-1168, 2007 (SCI-Expanded)
2007
2007Cerebro-facio-thoracic dysplasia: expanding the phenotype
Cilliers D., ALANAY Y., BODUROĞLU O. K., Utine E., Tuncbilek E., Clayton-Smith J.
CLINICAL DYSMORPHOLOGY
, vol.16, no.2, pp.121-125, 2007 (SCI-Expanded)
2007
2007A multidisciplinary approach to the management of individuals with fragile X syndrome
ALANAY Y., Unal F., Turanli G., Alikasifoglu M., Alehan D., Akyol U., et al.
JOURNAL OF INTELLECTUAL DISABILITY RESEARCH
, vol.51, pp.151-161, 2007 (SCI-Expanded)
2007
2007A molecular and clinical study of Larsen syndrome caused by mutations in FLNB
Bicknell L. S., Farrington-Rock C., Shafeghati Y., Rump P., ALANAY Y., Alembik Y., et al.
JOURNAL OF MEDICAL GENETICS
, vol.44, no.2, pp.89-98, 2007 (SCI-Expanded)
2007
2007The skeletal dysplasias: Clinical-molecular correlations
Rimoin D. L., Cohn D., Krakow D., Wilcox W., Lachman R. S., ALANAY Y.
SKELETAL BIOLOGY AND MEDICINE, PT B
, vol.1117, pp.302-309, 2007 (SCI-Expanded)
2006
2006Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome
ALANAY Y., Utine G. E., Lachman R. S., Krakow D., Tuncbilek E.
PEDIATRIC RADIOLOGY
, vol.36, no.9, pp.970-973, 2006 (SCI-Expanded)
2006
2006Congenital contractural arachnodactyly (Beals syndrome)
Tuncbilek E., Alanay Y.
ORPHANET JOURNAL OF RARE DISEASES
, vol.1, 2006 (SCI-Expanded)
2006
2006Spondyloenchondrodysplasia with spasticity, cerebral calcifications, and immune dysregulation: Clinical and radiographic delineation of a pleiotropic disorder
Renella R., Schaefer E., LeMerrer M., ALANAY Y., Kandemir N., Eich G., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, no.6, pp.541-550, 2006 (SCI-Expanded)
2006
2006Spondylo-ocular syndrome: A new entity involving the eye and spine
ALANAY Y., Superti-Furga A., Karel F., Tuncbilek E.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, vol.140A, no.6, pp.652-656, 2006 (SCI-Expanded)
2005
2005Analysis of MTHFR 1298A > C in addition to MTHFR 677C > T polymorphism as a risk factor for neural tube defects in the Turkish population
BODUROĞLU O. K., ALANAY Y., Alikasifoglu M., Aktas D., Tuncbilek E.
TURKISH JOURNAL OF PEDIATRICS
, vol.47, no.4, pp.327-333, 2005 (SCI-Expanded)
2005
2005Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observations
ALANAY Y., Aktas D., Utine E., Talim B., Onderoglu L., Caglar M., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, no.3, pp.265-268, 2005 (SCI-Expanded)
2005
2005Response to the letter to "MTHTR 677C-T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women"
Boduroglu K., Alanay Y., Tuncbilek E., Koldan B.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, no.4, pp.462, 2005 (SCI-Expanded)
2005
2005MTHFR 677C-T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women [4] (multiple letters)
Martínez-Frías M. L., Bermejo E., Rodríguez-Pinilla E., Prieto D., Prieto L., Boduroǧlu K., et al.
American Journal of Medical Genetics
, no.4, pp.461-462, 2005 (SCI-Expanded)
2005
2005Celiac disease screening in 100 Turkish children with Down syndrome
ALANAY Y., BODUROĞLU O. K., Tuncbilek E.
TURKISH JOURNAL OF PEDIATRICS
, vol.47, no.2, pp.138-140, 2005 (SCI-Expanded)
2005
2005Clinical heterogeneity of hereditary optic atrophy in a Turkish family
Acaroglu G., ALANAY Y., Reynier P., Amati-Bonneau P., Men G.
NEURO-OPHTHALMOLOGY
, vol.29, no.1, pp.9-15, 2005 (SCI-Expanded)
2005
2005A case of ring chromosome 18 with mild phenotypic features
BODUROĞLU O. K., ALANAY Y., Tuncbillek E.
CHROMOSOME RESEARCH
, vol.13, pp.66, 2005 (SCI-Expanded)
2005
2005The evolution of sagittal segmental alignment of the spine during childhood
Cil A., Yazici M., Uzumcugil A., Kandemir U., Alanay A., ALANAY Y., et al.
SPINE
, vol.30, no.1, pp.93-100, 2005 (SCI-Expanded)
2004
2004Phenotypic and molecular characterization of Bruck syndrome (osteogenesis imperfecta with contractures of the large joints) caused by a recessive mutation in PLOD2
Ha-Vinh R., ALANAY Y., Bank R., Campos-Xavier A., Zankl A., Superti-Furga A., et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, no.2, pp.115-120, 2004 (SCI-Expanded)
2004
2004Oculo-palato-cerebral syndrome: A third case supporting autosomal recessive inheritance
ALANAY Y., BODUROĞLU O. K., Sonmez B., Orhan M.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, no.1, pp.92-95, 2004 (SCI-Expanded)
2004
2004Noonan syndrome and systemic lupus erythematosus: presentation in childhood
ALANAY Y., Balci S., Ozen S.
CLINICAL DYSMORPHOLOGY
, vol.13, no.3, pp.161-163, 2004 (SCI-Expanded)
2004
2004Methylenetetrahydrofolate reductase enzyme polymorphisms as maternal risk for Down syndrome among Turkish women
BODUROĞLU O. K., ALANAY Y., Koldan B., Tuncbilek E.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, no.1, pp.5-10, 2004 (SCI-Expanded)
2003
2003Perinatal mortality rate - Hospital based study during 1998-2001 at Hacettepe University
Durukan T., Onderoglu L., Deren O., Saygan-Karamursel B., Erdem G., Oran O., et al.
JOURNAL OF PERINATAL MEDICINE
, vol.31, no.5, pp.435-440, 2003 (SCI-Expanded)
2001
2001Localized acquired hypertrichosis following cast application
Kara A., Kanra G., Alanay Y.
PEDIATRIC DERMATOLOGY
, vol.18, no.1, pp.57-59, 2001 (SCI-Expanded)
Articles Published in Other Journals
2025
2025Clinical and Molecular Analyses in 8 New Craniofrontonasal Syndrome Families: Revisiting the Mild End of the Phenotypic Spectrum in Females
Altunoglu U., KARAMAN B., ALANAY Y., Percin F., UYGUNER Z. O., Kayserili H.
TURKISH ARCHIVES OF PEDIATRICS
, no.2, 2025 (ESCI)
2025
2025MOWAT-WILSON SYNDROME: DEEP PHENOTYPING AND MOLECULAR CHARACTERISATION OF TWELVE NEW INDIVIDUALS
Altunoglu U., Gunes N., Turgut G. T., KALAYCI T., Aslanger A. D., Derbent M., et al.
JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
, 2025 (ESCI)
2025
2025CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
van der Laan L., Silva A., Kleinendorst L., Rooney K., Haghshenas S., Lauffer P., et al.
HUMAN GENETICS AND GENOMICS ADVANCES
, vol.6, no.1, 2025 (ESCI)
2023
2023Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
Chong J. X., Childers M. C., Marvin C. T., Marcello A. J., Gonorazky H., Hazrati L., et al.
HUMAN GENETICS AND GENOMICS ADVANCES
, vol.4, no.3, 2023 (ESCI)
2022
2022Genetik Hastalık Şüphesi Olan Fetal ve Pediatrik Hastalarda Moleküler Otopsinin Klinik Faydası
AKGÜN DOĞAN Ö., AĞAOĞLU N. B., ALANAY Y.
Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi , vol.11, no.1, pp.82-89, 2022 (Peer-Reviewed Journal)
2021
2021How Medical Education Has Been Affected in the COVID-19 Global Outbreak? Acıbadem University Faculty of Medicine Experience
BAKIRCI N., ALTINTAŞ L., ŞAHİNER M., SÜYEN G., ALANAY Y.
Tıp Eğitimi Dünyası
, vol.20, no.60-1, pp.83-86, 2021 (Peer-Reviewed Journal)
2020
2020Intrauterine Cataract Diagnosis and Follow-up
Aksay S., BİLDİRİCİ İ., COŞAR C. B., ALANAY Y., Cigerciogullari E.
TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY
, vol.50, no.4, pp.245-247, 2020 (Peer-Reviewed Journal)
2020
2020The process of how mothers with down's syndrome children learn about the diagnosis: A qualitative research
Basgul S. S., Mutlu D., ALANAY Y., Toker M.
ANNALS OF CLINICAL AND ANALYTICAL MEDICINE
, vol.11, no.1, pp.54-58, 2020 (Peer-Reviewed Journal)
2017
2017Dental Findings and Mutational Analysis of a Case withEhlers-Danlos Syndrome
HAKKI S., Aktaş D., ALANAY Y., AVUNDUK M. C., HAKKI E. E.
Journal of Dentistry and Oral Biology , vol.2, pp.1-5, 2017 (Peer-Reviewed Journal)
2017
2017Gorlin Syndrome in Eleven Patients
ÜTİNE G. E., ALANAY Y., Aktas D., BODUROĞLU O. K., ALİKAŞİFOĞLU M., TUNÇBİLEK E.
JOURNAL OF PEDIATRIC RESEARCH
, vol.4, no.2, pp.63-67, 2017 (Peer-Reviewed Journal)
2017
2017Clinical genetics and classification of craniosynostosis
ŞAHİN O. N., Alanay Y.
Türk Nöroşirürji Dergisi , vol.27, no.3, pp.255-262, 2017 (Peer-Reviewed Journal)
2014
2014FKBP10 (FKBP65 Protein), Osteogenesis Imperfecta and Bruck Syndrome
Krakow D., ALANAY Y.
OSTEOGENESIS IMPERFECTA: A TRANSLATIONAL APPROACH TO BRITTLE BONE DISEASE
, pp.151-157, 2014 (Peer-Reviewed Journal)
2013
2013Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis
Keupp K., Li Y., VARGEL İ., Hoischen A., Richardson R., Neveling K., et al.
MOLECULAR GENETICS & GENOMIC MEDICINE
, vol.1, no.4, pp.223-237, 2013 (ESCI)
2012
2012Early physiotherapy interventions in a case with the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome and arthrogryposis multiplex congenita
KINIKLI G. İ., GÜR G., MUTLU A., KEREM GÜNEL M., ALANAY Y.
Yeni Tıp Dergisi , vol.29, no.2, pp.108-111, 2012 (Peer-Reviewed Journal)
2011
2011Pentalogy of Cantrell: A case report Tam ektopia kordisli bir Cantrell pentalojisi vakasi
KILIÇ E., Alanay Y., Korkmaz A., Ütine E., KARAGÖZ T., Boduroǧlu K.
Cocuk Sagligi ve Hastaliklari Dergisi
, vol.54, no.2, pp.83-86, 2011 (Scopus)
2011
2011Searching f(o)r Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability
Utine G. E., Kiper P. O., ALANAY Y., Haliloglu G., Aktas D., BODUROĞLU O. K., et al.
MOLECULAR SYNDROMOLOGY
, vol.2, no.2, pp.64-71, 2011 (Peer-Reviewed Journal)
2010
2010Perinatal mortality analysis from 2001-2006 at Hacettepe University Hospital Hacettepe Üniversitesi Hastanesi 2001-2006 dönemi perinatal mortalite analizi
Korkmaz A., AKÇÖREN Z., Alanay Y., ÖZYÜNCÜ Ö., YİĞİT Ş., DEREN Ö., et al.
Cocuk Sagligi ve Hastaliklari Dergisi
, vol.53, no.3, pp.175-188, 2010 (Scopus)
2004
2004Femoral-facial syndrome: A case-report Femoral hipoplazi ve deǧişik yüz görünü mü sendromu: Bir vaka takdimi
Korkmaz A., Çinar A., TEKŞAM Ö., YURDAKÖK M., Alanay Y., Balci S.
Cocuk Sagligi ve Hastaliklari Dergisi
, vol.47, no.3, pp.205-208, 2004 (Scopus)
Papers Presented at Peer-Reviewed Scientific Conferences
2024
2024EARLY REAL-WORLD EXPERIENCE WITH VOSORITIDE TREATMENT IN ACHONDROPLASIA: A SINGLE-CENTER REPORT FROM TURKEY
Abalı S., Özköse S. G., Akgün Doğan Ö., Semiz S., Alanay Y.
16. International Skeletal Dysplasia Society Meeting, Madrid, Spain, 18 - 21 September 2024, (Unpublished)
2024
2024Yoğun Bakımdaki Kritik Yenidoğan ve Süt Çocuklarında Hızlı Yeni Nesil Dizileme ile Genetik Tanı-İlk Türkiye Deneyimi
Güner Yılmaz B., Akgün Doğan Ö., Özdemir Ö., Bilgüvar K., Hatırnaz Ng Ö., Özköse G. Ş., et al.
Ulusal Neonatoloji Kongresi, Antalya, Turkey, 24 - 28 April 2024, (Unpublished)
2023
2023Neuroimaging features of MOPDII in ten patients with PCNT mutation: A Tertiary Centre Experience
Akalin A., GÖÇMEN R., Simsek-Kiper P., TAŞKIRAN Z. E., ALANAY Y., HALİLOĞLU V. G., et al.
56th Annual Conference of the European-Society-of-Human-Genetics (ESHG), Glasgow, England, 10 - 13 June 2023, pp.408-409, (Summary Text)
2023
2023Camptodactyly, Tall Stature, And Hearing Loss Syndrome with a Novel Homozygous FGFR3 Variant
Akgün Doğan Ö., Abalı S., Alanay Y.
19th Manchester Dysmorphology Conference 2023, Manchester, England, 16 - 18 November 2023, pp.13-14, (Full Text)
2023
2023First Report of Heterozygous Intragenic Deletion in NPR2 Presenting with Familial Short Stature
Akgün Doğan Ö., Alanay Y.
19th Manchester Dysmorphology Conference 2023, Manchester, England, 16 - 18 November 2023, pp.10-12, (Full Text)
2023
2023Türkiye’De Yoğun Bakımdaki Kritik Pediatrik Hastalarda Hızlı Tüm Genom Dizileme: Bir Ön Çalışma
Akgün Doğan Ö., Alanay Y., Özdemir Ö., Hatırnaz Ng Ö., Beken S.
6. Çocuk Genetik Ulusal Kongresi, İzmir, Turkey, 9 - 12 November 2023, pp.87-88, (Full Text)
2023
2023Obstacles and Expectations of Rare Disease Patients and Their Families in Türkiye: ISTisNA Project Survey Results
Hatırnaz Ng Ö., Özdemir Ö., Alanay Y., Akgün Doğan Ö.
12th International Conference on Rare and Undiagnosed Diseases, Tbilisi, Georgia, 22 - 23 October 2023, pp.1, (Summary Text)
2022
2022Biallelic copy number variations in both upstream & downstream enhancers of SHOX gene causes mesomelia and clubfoot without short stature
Yilmaz B. G., ABALI S., Akberzade A., Ay B., Tumer S., AKGÜN DOĞAN Ö., et al.
55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Austria, 11 - 14 June 2022, pp.127, (Summary Text)
2022
2022From patient to function: modeling CRIM1 in xenopus tropicalis
AKGÜN DOĞAN Ö., Viviano S., HATIRNAZ NG Ö., Agaoglu N. B., Ji W., Jeffries L., et al.
55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Austria, 11 - 14 June 2022, pp.656-657, (Summary Text)
2022
2022Multiple epiphyseal dysplasia: A diagnostic challenge with genetic heterogeneity
Dasar T. N., TAŞKIRAN Z. E., Urel-Demir G., KARAOSMANOĞLU B., İMREN G., YILMAZ G., et al.
55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Austria, 11 - 14 June 2022, pp.397, (Summary Text)
2022
2022Retrospective analysis of fetal magnetic resonance imaging (feMRI) examinations in the last 10 years at a tertiary center: experience of a single radiologist and a single perinatologist
Ay B., Sari E., ALİS D. C., KARAARSLAN E., Bildirici I., ALANAY Y.
55th European-Society-of-Human-Genetics (ESHG) Conference, Vienna, Austria, 11 - 14 June 2022, pp.105, (Summary Text)
2023
2023Geçici neonatal myasteni gravis mi? Fetal asetilkolin reseptör inaktivasyon sendromu mu?8
Aktas S., Kazancı E., Güner Yılmaz B., Korkmaz Toygar A., Alanay Y., Çomu S.
Ulusal Neonatoloji Kongresi, Antalya, Turkey, 26 - 30 April 2023, (Unpublished)
2022
2022Severely Affected Newborn Female With De Novo Likely Pathogenic Variant In BCAP31
Güner Yılmaz B., Aktas S., Kazancı E., Zeybel G., Özköse G. Ş., Akgün Doğan Ö., et al.
Undiagnosed diseases network international (UDNI), Vienna, Austria, 7 - 08 November 2022, (Unpublished)
2022
2022Evaluation of the etiology of epilepsy and/or developmental delay in children with next generation sequencing:A single center experience
Kava H., Alanay Y., Yeşilyurt A., Isık U.
17. International Child Neurology Congress, Antalya, Turkey, 3 - 07 October 2022, pp.2, (Unpublished)
2021
2021Molecular Diagnosis of TYR Negative Albinism Patients by Clinical Exome Sequencing
Akyoney S., Sahin I., Unal B., Agaoglu N. B., Mudun A., Parlakgunes Z., et al.
54th Conference of the European-Society-of-Human-Genetics (ESHG), ELECTR NETWORK, 28 - 31 August 2021, pp.118, (Summary Text)
2020
2020The third family with <i>TAF6</i>-related phenotype: Alazami-Yuan syndrome
Tuc E., Bengur F. B., Aykut A., ŞAHİN Ö., ALANAY Y.
53rd Conference of the European-Society-of-Human-Genetics (ESHG), ELECTR NETWORK, 6 - 09 June 2020, pp.904, (Summary Text)
2020
2020A Randomized Controlled Trial of Vosoritide in Children with Achondroplasia
Savarirayan R., Tofts L., Irving M., Wilcox W., Bacino C., Hoover-Fong J., et al.
Annual Meeting of the American-Society-for-Bone-and Mineral Research (ASBMR), ELECTR NETWORK, 11 - 15 September 2020, vol.35, pp.18, (Summary Text)
2019
2019Screening TYR gene variations in Turkish oculocutaneuse albinism patients
Ng O. H., YILMAZ E., Parlakgunes Z., YARARBAŞ K., Ziylan S., ALANAY Y., et al.
52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, Sweden, 15 - 18 June 2019, vol.27, pp.1233-1234, (Summary Text)
2019
2019Does my expertise still make a difference? A single-clinician's experience of genomic sequencing in 120 pediatric patients
Bengur F. B., KAR E., YARARBAŞ K., ALANAY Y.
52nd Conference of the European-Society-of-Human-Genetics (ESHG), Gothenburg, Sweden, 15 - 18 June 2019, vol.27, pp.1506-1507, (Summary Text)
2019
2019WAC geninde tanımlanan yeni bir varyant ve DeSanto-Shinawi Sendromu
Tunç E., TEMEL Ş. G., ALANAY Y.
4.Çocuk Genetik Kongresi, Turkey, 25 - 27 September 2019, (Summary Text)
2019
2019Meester-Loeys sendromu: Marfan benzeri sendromlara yeni bir üye
ZEYBEK S., TEMEL Ş. G., NUR B., ÖZEMRİ SAĞ Ş., ALANAY Y., MIHÇI E.
4. Ulusal Çocuk Genetik Kongresi, Turkey, 25 - 27 September 2019, (Summary Text)
2019
2019The Skeletal Dysplasia Registry: Hacettepe Experience
ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., KOŞUKCU C., ARSLAN U. E., ÜTİNE G. E., ALANAY Y., et al.
The 14th biannual International Skeletal Dysplasia Society Meeting, Oslo, Norway, 11 - 14 September 2019, (Full Text)
2018
2018Next Generation Sequencing (NGS) panel revealed new candidate genes and variants in 25 Hypertrophic Cardiomyopathy patients
Turkgenc B., TEMEL Ş. G., UYSAL F., Atik S. U., Oztunc F., Sulu A., et al.
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.150, (Summary Text)
2018
2018Clinical, demographic and nosologic characterisation of the genetic disorders of the skeleton in Turkey: The skeletal dysplasia registry
Simsek-Kiper P. O., Utine G. E., Taskiran E. Z., Kosukcu C., Arslan U., ALANAY Y., et al.
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.130, (Summary Text)
2018
2018Camptodactyly-arthropathy-coxa vara-pericarditis syndrome in a large family: A clinical condition with a diagnostic challange
Oguz S., Kiper P. O. S., Utine G. E., ALANAY Y., Ozen S., BODUROĞLU O. K., et al.
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.97, (Summary Text)
2018
2018Ischiospinal Dysostosis in a boy with a novel homozygous missense mutation in the BMPER gene
Kablan A., Mat B., Temel Ş. G., ALANAY Y.
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.916-917, (Summary Text)
2018
2018Possible effect of IGFR1 gene on macrocephaly in a patient with unbalanced 6;15 translocation with 6p25 deletion and 15q26 duplication
YARARBAŞ K., Sayar C., Tumer S., Ozciger D., Tavukcu C., Oncu N., et al.
51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, Italy, 16 - 19 June 2018, vol.27, pp.992, (Summary Text)
2019
2019Bir Uygulama Örneği: (Durum Bildirir Rapor: ) Acıbadem Üniversitesi Tıp Fakültesi Faz 1 Programını Değerlendirme ve Geliştirme Çalışması
Şahiner A. M., Süyen G., Bakırcı N., Alanay Y., Altıntaş L.
Ulusal Tıp Eğitimi Sempozyumu 2019, Eskişehir, Turkey, 10 - 12 April 2019, vol.1, no.281214, pp.1, (Summary Text)
2019
2019BİLEŞİK HETEROZİGOT GALNS MUTASYONU İLE TANI ALAN KLASİK OLMAYAN MUKOPOLİSAKKARİDOZ TİP IVA
ABALI S., YARARBAŞ K., Ersoy Olbak M., Karabıyık N., İçten İ., ÇELEBİ A. R. C., et al.
3. EGE ENDOKRİN HASTALIKLAR VE GENETİK SEMPOZYUMU, Turkey, 8 - 09 March 2019, (Summary Text)
2017
2017Baraitser-Winter Syndrome in a boy with heterozygous missense mutation in the ACTB gene
Temel Ş. G., Ekmekci G., Yenmis G., Kiper P. O. S., ALANAY Y.
50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, Denmark, 27 - 30 May 2017, vol.26, pp.956, (Summary Text)
2018
2018Camptodactyly-arthropathy-coxa vara-pericarditis syndrome in a large family: A clinical condition with a diagnostic challenge.
OĞUZ S., ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., ALANAY Y., ÖZEN S., BODUROĞLU O. K., et al.
European Human Genetics Conference, 16 - 19 June 2018, (Full Text)
2018
2018Alan Seçmeli Dersler Programı: İlk Uygulama Döneminin Tamamlanmasının Ardından Genel Bir Değerlendirme
Altıntaş L., Artvinli F., Öktem Okullu S., Şahiner A. M., Bakırcı N., Alanay Y.
Ulusal Tıp Eğitimi Kongresi 2018, İzmir, Turkey, 9 - 12 May 2018, vol.1, no.453687, pp.1-2, (Summary Text)
2018
2018Otozomal resesif infantil bilateral striatal nekroz,nup 62 geninde mutasyon: olgu sunumu
ÜNVER O., SAĞER S. G., ÖZTÜRK THOMAS G., EKİNCİ G., ALANAY Y., TÜRKDOĞAN D.
20. Çocuk Ulusal Nörolojisi Kongresi, Cyprus (Kktc), 2 - 06 May 2018, (Summary Text)
2018
2018Normal enzim düzeyleri ve Japon Bayrağı göz dibi ile GM2 Gangliyosidoz tanısı alan iki kardeş: olgu sunumu
ÜNVER O., ÖZTÜRK THOMAS G., SAĞER S. G., EKİNCİ G., ALANAY Y., TÜRKDOĞAN D.
6. uluslararası katılımlı lizozomal hastalıklar kongresi, Turkey, 11 - 15 April 2018, (Summary Text)
2017
2017Targeted custom gene panel sequencing for cardiac ion channelopathies: Efficiently detects candidate pathogenic mutations in Long QT syndrome
TEMEL Ş. G., Turkgenc B., KARADAĞ Ö., AYKAN H. H., UYSAL F., Bastuhan I. Y., et al.
European Biotechnology Congress, Dubrovnik, Croatia, 25 - 27 May 2017, vol.256, (Summary Text)
2017
2017A NEW MUTATION IN THE WISP3 GENE (c.935_936insTp. C314Lfs7) IN A PATIENT WITH PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA
ABUR Ü., OĞUR M. G., AYKUT A., ALANAY Y.
Erciyes Medical Journal, 11 - 13 May 2017, vol.39, (Summary Text)
2017
2017Identification of Molecular Pathology of Peters’ Anomaly Segregating in a Large Autosomal Dominant Family
KOŞUKCU C., ASLI K., ALANAY Y., KAVAK P., BERKER N., TAŞKIRAN Z. E., et al.
10th International Symposium on Health Informatics and Bioinformatics (HIBIT 2017), KALKANLI, GUZELYURT, Cyprus (Kktc), 29 - 30 June 2017, (Full Text)
0
0A report of mosaic Turner syndrome with a mild Kabuki like phenotype
Yararbas K., Sayar C., Tumer S., Tavukcu C., Oncu N., Ozciger D., et al.
vol.10, (Summary Text)
2017
2017Baraitser-Winter Syndromein a boy with heterozygote missense mutation in the ACTB gene.
TEMEL Ş. G., ALANAY Y., Cumhur E., Pelin Özlem K. Ş.
ESHG Conference 2017, 27 - 30 May 2017, (Summary Text)
2017
2017Mitokondriyal hastalıklarda genetik testlerin rolü-iki olgu sunumu
ÖZTÜRK THOMAS G., ÜNVER O., SAĞER S. G., KUTLUBAY B., ALANAY Y., Yüksel F., et al.
19. Ulusal çocuk nörolojisi kongresi, Turkey, 19 - 23 April 2017, (Summary Text)
2017
2017Seçmeli Derslerin Uygulanmasında Acıbadem Tıp Fakültesi Deneyimi; Araştırma ve Projelerin Seçmeli Dersler ile Entegrasyonu
Altıntaş L., Artvinli F., Bakırcı N., Alanay Y.
Ulusal Tıp Eğitimi Sempozyumu 2017, Antalya, Turkey, 15 - 17 March 2017, vol.1, no.186, pp.1-2, (Summary Text)
2016
2016Clinical and Molecular Analysis of 3M Syndrome Patients A Study From Turkey
ŞİMŞEK KİPER P. Ö., TAŞKIRAN Z. E., ÜTİNE G. E., ALİKAŞİFOĞLU A., KANDEMİR N., Cormier Daire V., et al.
28th International Congress of Pediatrics, 17 - 22 August 2016, (Full Text)
2016
2016Detection of 15q (Prader Willi/Angelman) deletion in maternal cell-free fetal dna test, a case report
BATUKAN A. C., TAKMAZ Ö., YAKICIER M. C., ALANAY Y., ÖZBAŞLI E., Tosun O.
25th European Congress of Perinatal Medicine, Maastricht, Netherlands, 15 - 18 June 2016, vol.29, pp.21-22, (Summary Text)
2016
2016OBSL1 Mutations Represent The Major Gene Defect In A Group Of 3M Syndrome Patients A Study From Turkey
ŞİMŞEK KİPER P. Ö., Taşkıran E. Z., ARSLAN U., Koşukçu C., AKGÜN DOĞAN Ö., ÜTİNE G. E., et al.
European Society of Human Genetics Conference 2016, 21 - 24 May 2016, (Full Text)
2016
2016Meier Gorlin ear patella short stature syndrome A rare clinical entity
AKGÜN DOĞAN Ö., ŞİMŞEK KİPER P. Ö., ALANAY Y., ÜTİNE G. E., BODUROĞLU O. K.
European Society of Human Genetics Conference 2016, 21 - 24 May 2016, (Full Text)
2016
2016Detection of 15q (Prader Willi/ Angelman syndrome) deletion in maternal cell-free fetal DNA test; A case report
BATUKAN C., TAKMAZ Ö., YAKICIER C., ALANAY Y., ÖZBAŞLI E.
XI. Türk Alman Jinekoloji Kongresi, Antalya, Turkey, 11 - 15 May 2016, (Summary Text)
2016
2016Parsiyel Trizomi 19 9 ile ilşkili bir İmmün Yetmezlik
BOZDOĞAN G., VARDAR G., ÇITAK A., ERTEKİN V., ALANAY Y.
2. Klinik İmmonoloji Kongresi, Turkey, 31 March - 03 April 2016
2016
2016Parsiyel Trizomi 19p13 ile iliişkili bir immün yetmezlik
BOZDOĞAN G., VARDAR G., ÇITAK A., ERTEKİN V., ALANAY Y.
2. Klinik İmmunoloji Kongresi, Turkey, 31 March - 03 April 2016
2015
20153M Sendromlu Bir Grup Hastada Klinik Ve Moleküler Bulguların Analizi
ŞİMŞEK KİPER P. Ö., EKİM ZİHNİ T., ÜTİNE G. E., ALİKAŞİFOĞLU A., KANDEMİR N., VALERİE C. D., et al.
2. Ulusal Çocuk Genetik Sempozyumu, 22-24 Ekim 2015, Samsun, Türkiye, Turkey, 22 - 24 October 2015
2015
2015A custom Amplisec arrhytmia panel comprimising 68 cardiac chanelopathy genes is a gold standard for the rapid and sensitive detection of genetic variation in long Qt syndrome
Burcu T., TEMEL Ş. G., AYKAN H. H., SÜLÜ A., UYSAL F., BAŞPINAR O., et al.
American Society of Human Genetics Congress, 6 - 10 October 2015
2015
20153D Image analysis of facial skeletal and soft tissue changes after monobloc distraction
CANTER H. İ., ÖZEK M., ÇAKAN D., ALANAY Y., YILDIZ M. E., YILDIZ K.
The 16th Congress of International Society of Craniofacial Surgery (ISCFS), 14 - 18 September 2015
2015
2015CLINICAL AND MOLECULAR STUDY OF A SERIES OF 31 PATIENTS WITH CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS
Ranza E., Huber C., Levin N., Baujat G., ALANAY Y., Al Gazali L., et al.
12thINTERNATIONAL SKELETAL DYSPLASIA SOCIETY MEETING’, 29 July - 01 August 2015, (Summary Text)
2015
2015Spotlight on the pathogenesis of Kabuki syndrome
NİNA B., TSAİ I., POHL E., ŞİMŞEK KİPER P. Ö., BELEGGIA F., PERÇİN F. E., et al.
ESHG 2015, 6-9 June 2015, Glasgow, Scotland, United Kingdom., 6 - 09 June 2015, (Full Text)
2015
2015Spotlight on the pathogenesis of Kabuki syndrome
Bögershausen N., Tsai I. C., Pohl E., ŞİMŞEK KİPER P. Ö., Beleggia F., PERÇİN F. E., et al.
European Human Genetics Conference - ESHG 2015, Glasgow, Scotland, UK, 6 - 09 June 2015, (Summary Text)
2015
2015Spotlight on the pathogenesis of Kabuki syndrome
Bögershausen N., Tsai I., Pohl E., ŞİMŞEK KİPER P. Ö., Beleggia F., Percin F., et al.
European Human GeneticsConference 2015, 6 - 09 June 2015, (Summary Text)
2012
2012Bir Olgu Nedeni ile PTH Direnci Pseudohipoparatiroidi tip1 A Albright Herediter Osteodistrofisi mi Akrodisostoz mu
RAHİME GÜL Y. M., ALANAY Y., ÖZSU E., YÜKSEL A., ÇİZMECİOĞLU F. M., HATUN Ş.
16.Ulusal Pediatrik Endokrin ve Diyabet Kongresi, Samsun, Turkey, 6 - 10 November 2012, (Summary Text)
2011
2011Cabezas Sendromu
ÖZSU E., RAHİME GÜL Y. M., ÇİZMECİOĞLU F. M., ALANAY Y., HATUN Ş.
15. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, İzmir, Turkey, 23 - 26 November 2011, (Summary Text)
2011
2011Metabolik Sendrom Carnevale Sendrom Birlikteliği Vaka Sunumu
RAHİME GÜL Y. M., ALANAY Y., ÖZSU E., ÇİZMECİOĞLU F. M., HATUN Ş.
15.Ulusal Pediatrik Endokrin ve Diyabet Kongresi, İzmir, Turkey, 23 - 26 November 2011, (Summary Text)
2010
2010BİR SPONDİLO ENDONDRO DİSPLAZİ VAKASI
RAHİME GÜL Y. M., ÖZSU E., ÇİZMECİOĞLU F. M., ALANAY Y., HATUN Ş.
14. Ulusal Pediatrik Endokrin ve Diyabet Kongresi, Muğla, Turkey, 4 - 10 October 2010, (Summary Text)
2009
2009Two siblings with severe deforming osteogenesis imperfecta with mutations in the newly idendified recessive OI gene FKBP 65
RAHİME GÜL Y. M., ALANAY Y., AKARSU A. N., ÖZSU E., ÇİZMECİOĞLU F. M., HATUN Ş.
ESPE 49.Annual Meeting, PRAGUE, 22 - 25 September 2009, (Summary Text)
2009
2009Rapid prenatal diagnosis of common aneuploidies by QF-PCR, four years experience of Hacettepe University
Aktas D., Kutukcu B., Utine G., ALANAY Y., Deren O., BODUROĞLU O. K., et al.
7th European Cytogenetics Conference, Stockholm, Sweden, 4 - 07 July 2009, vol.17, pp.209, (Summary Text)
2007
2007Chromosomal abnormalities presented with seizures
Volkan-Salanci V., Utine G. E., Alanay Y., Aktas D., Boduroglu K., Alikasifoglu M., et al.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.84, (Summary Text)
2007
2007The detection of subtelomeric chromosomal rearrangements in 100 patients with idiopathic mental retardation: Hacettepe University Experience
Celik T., Utine E., ALANAY Y., Aktas D., Boduroglu K., Alikasifoglu M., et al.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.70, (Summary Text)
2007
2007Clinical evaluation of Prader-Willi and Angelman syndrome patients with 15q11-13 deletion
Kurtul K., Boduroglu K., ALANAY Y., Utine E., Salanci B. V., Aktas D., et al.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.96, (Summary Text)
2007
2007Two patients with distal partial trisomy 1q
Aktas D., Utine E., ALANAY Y., Gucer S., Tuncbilek E., Mrasek K., et al.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.70-71, (Summary Text)
2007
2007Partial monosomy of distal 6q
Utine E., ALANAY Y., Aktas D., Boduroglu K., Alikasifoglu A., Tuncbilek E.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.70, (Summary Text)
2007
2007Unilateral peters' anomaly type I in an infant with 22q11.2 deletion syndrome
Erdogan K. M., Utine G. E., ALANAY Y., Volkan-Salanci B., Boduroglu K., Aktas D., et al.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.100, (Summary Text)
2007
2007Bloom syndrome in a child with severe short stature and wilms tumor
Boduroglu K., ALANAY Y., Alikasifoglu M., Aktas D., Utine G. E., Tuncbilek E.
6th European Cytogenetics Conference, İstanbul, Turkey, 7 - 10 July 2007, vol.15, pp.142-143, (Summary Text)
Books
2021
2021Akondroplazi
AKGÜN DOĞAN Ö., ALANAY Y.
in: Çocuk Genetik Hastalıkları, Mıhçı, Ercan, Editor, Türkiye Klinikleri Yayınevi, Ankara, pp.66-71, 2021
2019
2019Genetik Danışma
AKGÜN DOĞAN Ö., ALANAY Y.
in: Cerebral Palsy ve Genetik, Özbek Uğur, Akçakaya Nihan Hande, Editor, Boyut Yayınevi, İstanbul, pp.57-65, 2019
2017
2017Kısım 10 Klinik Genetik ve Dismorfoloji, İskeletin Genetik Hastalıkları
ŞİMŞEK KİPER P. Ö., ALANAY Y.
in: Yurdakök Pediatri, Murat Yurdakök, Editor, Güneş Tıp Kitabevi, Ankara, pp.2024-2047, 2017
Funded Projects
2024 - 2027
2024 - 2027
Arid1b Ile İlişkili Bozuklukta Gelişimsel İlerleme Alanları - Çok Yöntemli Çok Merkezli Prospektif Doğal Seyir Çalışması
Other International Funding Programs
Akgün Doğan Ö., Sütçübaşı B., Alanay Y.
2024 - 2026
2024 - 2026
Combining Multidisciplinary Re-phenotyping with Re-analysis of WES/WGS Data in Patients with Undiagnosed Skeletal Dysplasias
TÜBİTAK International Bilateral Joint Cooperation Program Project
(Project Abstract)
Akgün Doğan Ö., Alanay Y. (Executive), Abalı S., Özdemir Ö.
2024 - 2025
2024 - 2025Progresif Psödoromatoid Displazi Hastalığı Geni Olan CCN6’de in vitro Oluşturulan Patojenik Varyantların Fonksiyonel Analizleri
Project Supported by Other Official Institutions
Güven G., Tahir Turanlı E. (Executive), Alanay Y.
2022 - 2024
2022 - 2024Progresif Psödoromatoid Displazi Geni olan CCN6’daki Patojenik Varyantların İşlevsel Analizleri İçin Kondrosit Hücre Hatlarında Modellenmesi
TUBITAK Project
Güven G. (Executive), Alanay Y., Tahir Turanlı E.
2022 - 2024
2022 - 2024İStanbul Tanısız ve NAdir Hastalıklara Çözüm Platformu-İSTisNA
Development Agency
Akgün Doğan Ö., Özbek U. (Executive), Hatırnaz Ng Ö., Alanay Y.
2022 - 2024
2022 - 2024
Yenidoğan ve Çocuk Yoğun Bakım Ünitesinde (YYBÜ/ÇYBÜ) Hızla Kötüleşen Kritik Yenidoğan ve Süt Çocuklarında Hızlı Yeni Nesil Dizileme ile Genetik Tanı
Project Supported by Higher Education Institutions
(Project Abstract)
Alanay Y., Özbek U., Hatırnaz Ng Ö., Akgün Doğan Ö., Özdemir Ö., Çıtak A., et al.
2022 - 2023
2022 - 2023“Herediter Spastik Paraparezili Bir Ailede Klinik İnceleme ve ERLIN1 Geninin Hastalık Patofizyolojisindeki Yerinin Aydınlatılması”
Project Supported by Higher Education Institutions
Akgün Doğan Ö., Alanay Y., Hatırnaz Ng Ö., Açıkel Elmas M.
2019 - 2023
2019 - 2023European Research Program on Rare Diseases
EU Framework Program Project
(Project Abstract)
Özbek U., Alanay Y., Sezerman O. U., Julkowska D.(Executive)
2020 - 2021
2020 - 2021Albinizm Hastalıklarında gen varyantlarının ekzom analizi ile belirlenmesi
Project Supported by Higher Education Institutions
Hatırnaz Ng Ö. (Executive), Özbek U., Alanay Y.
2019 - 2021
2019 - 2021Bireysel ve Dönüşümsel Tıp Alanındaki Uygulamalı Proje Çağrısı: Albinizm
Research Project of the Presidency of Turkey Health Institutes (TÜSEB)
Hatırnaz Ng Ö., Özbek U. (Executive), Alanay Y.
2019 - 2021
2019 - 2021İSTisNA – İStanbul Tanısız ve NAdir Hastalıklara Çözüm Platformu Fizibilite Projesi
Development Agency
(Project Abstract)
Özbek U. (Executive), Hatırnaz Ng Ö., Alanay Y.
2016 - 2021
2016 - 2021Akondroplazisi olan pediatrik hastalar için çok merkezli, çok uluslu klinik değerlendirme
Project Supported by Private Organizations in Other Countries
(Project Abstract)
Karaayvaz S., Alanay Y., Abalı S.
2019 - 2020
2019 - 2020Genetic predisposition to leukemia and lymphoma
Project Supported by Higher Education Institutions
Özbek U. (Executive), Hatırnaz Ng Ö., Alanay Y.
2018 - 2020
2018 - 2020The intend and design of this study is to assess BMN 111 as a therapeutic option for the treatment of children with Achondroplasia
Project Supported by Private Organizations in Other Countries
(Project Abstract)
Karaayvaz S., Alanay Y., Abalı S.
Activities in Scientific Journals
2023 - Continues
2023 - ContinuesEUROPEAN JOURNAL OF MEDICAL GENETICS
Committee Member
2010 - Continues
2010 - ContinuesAmerican Journal Of Medical Genetics Part A
Committee Member
2010 - Continues
2010 - ContinuesClinical Dysmorphology
Committee Member
Memberships and Roles in Scientific Organizations
2011 - Continues
2011 - Continues
Çocuk Genetik Hastalıkları Derneği
Member
2009 - Continues
2009 - ContinuesTürk Pediatri Kurumu
Member
2005 - Continues
2005 - ContinuesInternational Skeletal Dysplasia Society
Member
2003 - Continues
2003 - ContinuesEuropean Society of Human Genetics
Member
2002 - Continues
2002 - Continues