Metrikler
Yayın
303
Açık Erişim
18
BM Sürdürülebilir Kalkınma Amaçları
Biyografi
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.
Eğitim Bilgileri
2002 - 2011
2002 - 2011Tıpta Yandal Uzmanlık
Hacettepe Üniversitesi, Tıp Fakültesi (Türkçe), Dahili Tıp Bilimleri Bölümü, Türkiye
2004 - 2009
2004 - 2009Doktora
Hacettepe Üniversitesi, Sağlık Bilimleri Enstitüsü, Pediyatrik Temel Bilimler A.B.D., Türkiye
2005 - 2006
2005 - 2006Post Doktora
University of California, Los Angeles, Cedars-Sinai Medical Center, Amerika Birleşik Devletleri
1997 - 2002
1997 - 2002Tıpta Uzmanlık
Hacettepe Üniversitesi, Tıp Fakültesi (Türkçe), Türkiye
1990 - 1996
1990 - 1996Lisans
Hacettepe Üniversitesi, Tıp Fakültesi (İngilizce), Türkiye
Araştırma Alanları
Tıp
Dahili Tıp Bilimleri
Çocuk Sağlığı ve Hastalıkları
Pediatrik Genetik ve Teratoloji
Tıbbi Genetik
Akademik Faaliyetlere Dayalı Araştırma Alanları
Avesis Araştırma Alanları
WoS Araştırma Alanları
Scopus Araştırma Alanları
Akademik Ünvanlar / Görevler
2013 - Devam Ediyor
2013 - Devam EdiyorProf. Dr.
Acıbadem Mehmet Ali Aydınlar Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
2011 - 2012
2011 - 2012Doç. Dr.
Acıbadem Mehmet Ali Aydınlar Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
2008 - 2010
2008 - 2010Doç. Dr.
Hacettepe Üniversitesi, Tıp Fakültesi (Türkçe), Dahili Tıp Bilimleri Bölümü
2005 - 2008
2005 - 2008Dr. Öğr. Üyesi
Hacettepe Üniversitesi, Tıp Fakültesi (Türkçe), Dahili Tıp Bilimleri Bölümü
2002 - 2005
2002 - 2005Uzman
Hacettepe Üniversitesi, Tıp Fakültesi (Türkçe), Dahili Tıp Bilimleri Bölümü
Yönetimsel Görevler
2023 - Devam Ediyor
2023 - Devam EdiyorUygulama ve Araştırma Merkezi Müdürü
Acıbadem Mehmet Ali Aydınlar Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
2020 - Devam Ediyor
2020 - Devam EdiyorRektörlüğe Bağlı Komisyon Üyesi
Acıbadem Mehmet Ali Aydınlar Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
2020 - Devam Ediyor
2020 - Devam EdiyorRektörlüğe Bağlı Komisyon Üyesi
Acıbadem Mehmet Ali Aydınlar Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
2018 - Devam Ediyor
2018 - Devam EdiyorUygulama ve Araştırma Merkezi Yönetim Kurulu Üyesi
Acıbadem Mehmet Ali Aydınlar Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
2015 - 2021
2015 - 2021Dekan
Acıbadem Mehmet Ali Aydınlar Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü
Makaleler
Tümü (214)
SCI-E, SSCI, AHCI (195)
SCI-E, SSCI, AHCI, ESCI (206)
ESCI (6)
Scopus (204)
TRDizin (13)
Diğer Yayınlar (1)
2026
20261. Expanding the Phenotypic Spectrum of ERLIN1-Related SPG62: Report of Two Siblings With Behavioral Features and Hyperacusis
Ozkose G. S., Topçu Y., Ay B., Özdemir Ö., Akgün Doğan Ö., Hatirnaz Ng Ö., et al.
Clinical Genetics
, cilt.109, sa.1, ss.149-154, 2026 (SCI-Expanded, Scopus)
2025
20252. Molecular Consequences of CCN6 Variants Encoding WISP3 in Progressive Pseudorheumatoid Dysplasia
Guven Tasbicen G., Tufan A., Savsar B., Bulbul A. A., Tonbul Z., Guzel E., et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES , cilt.26, ss.1-33, 2025 (SCI-Expanded, Scopus)
2025
20253. Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2-Related Rothmund-Thomson Syndrome.
Ay B., Akgun-Dogan Ö., Taylan F., Marcelis C., Abali S., Lim J. Y., et al.
American journal of medical genetics. Part A
, 2025 (SCI-Expanded, Scopus)
2025
20254. HPDL Variant Type Correlates With Clinical Disease Onset and Severity
Lee E. H., Kim-Mcmanus O., Yang J. H., Haas R., Zaki M. S., Abdel-Salam G. M. H., et al.
Annals of Clinical and Translational Neurology
, cilt.12, sa.7, ss.1360-1367, 2025 (SCI-Expanded, Scopus)
2025
20255. BCL11B-related disease: a single phenotypic entity?
Vedovato-Dos-Santos J. H., Tooze R. S., Sithambaram S., McCann E., Alanay Y., Dogan Ö., et al.
European journal of human genetics : EJHG
, cilt.33, sa.4, ss.451-460, 2025 (SCI-Expanded, Scopus)
2025
20256. Clinical 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
, sa.2, 2025 (ESCI, TRDizin)
2025
20257. MOWAT-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, TRDizin)
2025
20258. CUL3-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
, cilt.6, sa.1, 2025 (ESCI, Scopus)
2025
20259. Navigating diagnostic challenges in Xeroderma Pigmentosum variant type Kseroderma Pigmentozum varyant tipinde tanısal zorluklara bakış
Saraç G., Dicle Ö., ALANAY Y., DEMİRKESEN C., ŞAHİN S.
Turkderm Turkish Archives of Dermatology and Venereology
, cilt.59, sa.2, ss.63-65, 2025 (ESCI, Scopus, TRDizin)
2025
202510. A 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
, cilt.13, 2025 (SCI-Expanded, SSCI, Scopus)
2025
202511. Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience
Kava H., AKGÜN DOĞAN Ö., Yesilyurt A., ALANAY Y., Isik U.
Frontiers in Pediatrics
, cilt.13, 2025 (SCI-Expanded, Scopus)
2025
202512. When Neuromotor Delay Meets Thyroid Dysfunction: A Case for Considering Allan-Herndon-Dudley Syndrome Wenn Neuromotorische Entwicklungsverzögerung auf Schilddrüsenfunktionsstörung trifft: Ein Fall für das Allan-Herndon-Dudley-Syndrom
KARAKAŞ H., AKGÜN DOĞAN Ö., Altun I., Velioǧlu Haślak G., Uçar M., TURAN H., et al.
Klinische Padiatrie
, 2025 (SCI-Expanded, Scopus)
2024
202413. BCL11B-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
, ss.1559-1560, 2024 (SCI-Expanded, Scopus)
2024
202414. Impact 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
, ss.1560, 2024 (SCI-Expanded, Scopus)
2024
202415. Statistical 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
, ss.1172, 2024 (SCI-Expanded, Scopus)
2024
202416. ITGB4-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
, cilt.72, ss.104971, 2024 (SCI-Expanded, Scopus)
2024
202417. Statistical 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
, ss.1172, 2024 (SCI-Expanded, Scopus)
2024
202418. CFAP99 deficiency leads to heterotaxy and scoliosis
Ay B., Viviano S., AKGÜN DOĞAN Ö., ALANAY Y., Deniz E.
EUROPEAN JOURNAL OF HUMAN GENETICS
, ss.1747-1748, 2024 (SCI-Expanded, Scopus)
2024
202419. CFAP99 deficiency leads to heterotaxy and scoliosis
Ay B., Viviano S., AKGÜN DOĞAN Ö., ALANAY Y., Deniz E.
EUROPEAN JOURNAL OF HUMAN GENETICS
, ss.1747-1748, 2024 (SCI-Expanded, Scopus)
2024
202420. Pushing 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
, sa.11, ss.2287-2294, 2024 (SCI-Expanded, Scopus)
2024
202421. Two 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
, cilt.32, sa.10, ss.1250-1256, 2024 (SCI-Expanded, Scopus)
2024
202422. Real-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
, ss.348-349, 2024 (SCI-Expanded, Scopus)
2024
202423. PERSISTENT 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
, ss.157-159, 2024 (SCI-Expanded, Scopus)
2024
202424. PERSISTENT 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
, ss.167-169, 2024 (SCI-Expanded, Scopus)
2024
202425. GROWTH-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
, ss.172-174, 2024 (SCI-Expanded, Scopus)
2024
202426. Rapid 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
, cilt.12, ss.1412880, 2024 (SCI-Expanded, Scopus)
2024
202427. A 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
, cilt.61, sa.2, ss.99-100, 2024 (SCI-Expanded, Scopus, TRDizin)
2024
202428. Impact 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
, cilt.15, 2024 (SCI-Expanded, Scopus)
2023
202329. A 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
, cilt.11, sa.12, 2023 (SCI-Expanded, Scopus)
2023
202330. Treatment 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
, ss.174-175, 2023 (SCI-Expanded, Scopus)
2023
202331. An 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
, ss.163, 2023 (SCI-Expanded, Scopus)
2023
202332. Variants 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
, cilt.4, sa.3, 2023 (ESCI, Scopus)
2023
202333. Persistent 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
, sa.SUPPL 3, ss.149-151, 2023 (SCI-Expanded, Scopus)
2023
202334. The 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
, cilt.191, sa.7, ss.1814-1825, 2023 (SCI-Expanded, Scopus)
2023
202335. DNAJC21-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
, cilt.193, sa.2, ss.193-197, 2023 (SCI-Expanded, Scopus)
2023
202336. Real-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
, sa.1, 2023 (SCI-Expanded, Scopus)
2023
202337. Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature
Parra A., Rabin R., Pappas J., Pascual P., Cazalla M., Arias P., et al.
GENES
, cilt.14, sa.6, 2023 (SCI-Expanded, Scopus)
2023
202338. Spondylo-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
, cilt.66, sa.4, 2023 (SCI-Expanded, Scopus)
2023
202339. Persistent 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
, sa.SUPPL 2, ss.28-29, 2023 (SCI-Expanded, Scopus)
2023
202340. Obstacles 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
, cilt.10, 2023 (SCI-Expanded, SSCI, Scopus)
2023
202341. Undiagnosed 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
, cilt.11, 2023 (SCI-Expanded, SSCI, Scopus)
2023
202342. Unmet 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
, cilt.11, 2023 (SCI-Expanded, SSCI, Scopus)
2022
202243. Growth 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
, cilt.24, sa.12, ss.2444-2452, 2022 (SCI-Expanded, Scopus)
2022
202244. Investigation 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
, cilt.59, sa.9, ss.1114-1124, 2022 (SCI-Expanded, Scopus)
2022
202245. Defining mitochondrial protein functions through deep multiomic profiling
Rensvold J. W., Shishkova E., Sverchkov Y., Miller I. J., ÇETİNKAYA A., Pyle A., et al.
NATURE
, cilt.606, ss.382-388, 2022 (SCI-Expanded, Scopus)
2022
202246. Genetik Hastalık Şüphesi Olan Fetal ve Pediatrik Hastalarda Moleküler Otopsinin Klinik Faydası
AKGÜN DOĞAN Ö., AĞAOĞLU N. B., ALANAY Y.
Gümüşhane Üniversitesi Sağlık Bilimleri Dergisi , cilt.11, sa.1, ss.82-89, 2022 (TRDizin)
2021
202147. Re-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
, cilt.14, sa.1, 2021 (SCI-Expanded, Scopus)
2021
202148. Further 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
, cilt.66, ss.585-596, 2021 (SCI-Expanded, Scopus)
2021
202149. How 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
, cilt.20, sa.60-1, ss.83-86, 2021 (TRDizin)
2021
202150. Chondrodysplasia 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
, cilt.185, sa.2, ss.517-527, 2021 (SCI-Expanded, Scopus)
2021
202151. Successful 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
, cilt.29, sa.1, ss.141-153, 2021 (SCI-Expanded, Scopus)
2020
202052. Whole 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
, cilt.28, sa.SUPPL 1, ss.886-887, 2020 (SCI-Expanded, Scopus)
2020
202053. Clinical 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
, cilt.11, sa.4, ss.183-196, 2020 (SCI-Expanded, Scopus)
2020
202054. Defining 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
, cilt.143, ss.2929-2944, 2020 (SCI-Expanded, Scopus)
2020
202055. Once-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
, cilt.396, sa.10252, ss.684-692, 2020 (SCI-Expanded, Scopus)
2020
202056. Intrauterine Cataract Diagnosis and Follow-up
Aksay S., BİLDİRİCİ İ., COŞAR C. B., ALANAY Y., Cigerciogullari E.
TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY
, cilt.50, sa.4, ss.245-247, 2020 (Hakemli Dergi)
2020
202057. Recurrent hydatidiform mole: When to stop ?
ÖZBAŞLI E., TAKMAZ Ö., Gurkan H., ALANAY Y., GÜNGÖR M., DEDE F. S.
Clinical and Experimental Obstetrics and Gynecology
, cilt.47, sa.3, ss.424-426, 2020 (SCI-Expanded, Scopus)
2020
202058. A 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
, cilt.93, ss.169-170, 2020 (SCI-Expanded, Scopus)
2020
202059. The third family with TAF6-related phenotype: Alazami-Yuan syndrome
Tuc E., Bengur F. B., Aykut A., ŞAHİN Ö., ALANAY Y.
CLINICAL GENETICS
, cilt.97, sa.5, ss.795-796, 2020 (SCI-Expanded, Scopus)
2020
202060. The 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
, cilt.11, sa.1, ss.54-58, 2020 (Hakemli Dergi)
2019
201961. Further 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
, cilt.179, sa.7, ss.1157-1172, 2019 (SCI-Expanded, Scopus)
2019
201962. The 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
, cilt.21, sa.6, ss.1295-1307, 2019 (SCI-Expanded, Scopus)
2019
201963. p.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
, ss.103659, 2019 (SCI-Expanded, Scopus)
2019
201964. A 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
, cilt.20, ss.15, 2019 (SCI-Expanded, Scopus)
2018
201865. Epigenotype 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
, cilt.60, sa.5, ss.506-513, 2018 (SCI-Expanded, Scopus, TRDizin)
2018
201866. Biallelic 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
, cilt.50, sa.8, ss.1093-1107, 2018 (SCI-Expanded, Scopus)
2018
201867. Fragile 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 Ö., Urel-Demir G., ALANAY Y., Aktas D., et al.
EUROPEAN JOURNAL OF OBSTETRICS & GYNECOLOGY AND REPRODUCTIVE BIOLOGY
, cilt.221, ss.76-80, 2018 (SCI-Expanded, Scopus)
2018
201868. Parieto-occipital alopecia in early infancy mandates cranial imaging
Tuc E., KARAARSLAN E., Celik I., ALANAY Y.
CLINICAL DYSMORPHOLOGY
, cilt.27, sa.1, ss.15-17, 2018 (SCI-Expanded, Scopus)
2018
201869. Hematopoietic 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
, cilt.40, sa.1, ss.81-82, 2018 (SCI-Expanded, Scopus)
2017
201770. Dental 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 , cilt.2, ss.1-5, 2017 (Hakemli Dergi)
2017
201771. A 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
, cilt.32, sa.6, ss.1309-1319, 2017 (SCI-Expanded, Scopus)
2017
201772. Chondrodysplasia 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
, cilt.91, sa.6, ss.868-880, 2017 (SCI-Expanded, Scopus)
2017
201773. Gorlin Syndrome in Eleven Patients
ÜTİNE G. E., ALANAY Y., Aktas D., BODUROĞLU O. K., ALİKAŞİFOĞLU M., TUNÇBİLEK E.
JOURNAL OF PEDIATRIC RESEARCH
, cilt.4, sa.2, ss.63-67, 2017 (Hakemli Dergi)
2017
201774. Clinical genetics and classification of craniosynostosis
ŞAHİN O. N., Alanay Y.
Türk Nöroşirürji Dergisi , cilt.27, sa.3, ss.255-262, 2017 (TRDizin)
2017
201775. Mutations 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
, cilt.100, sa.2, ss.216-227, 2017 (SCI-Expanded, Scopus)
2016
201676. AUTS2 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
, cilt.170, sa.12, ss.3231-3236, 2016 (SCI-Expanded, Scopus)
2016
201677. Expanding 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
, cilt.18, sa.9, ss.882-891, 2016 (SCI-Expanded, Scopus)
2016
201678. Is 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
, cilt.170, sa.7, ss.1889-1894, 2016 (SCI-Expanded, Scopus)
2016
201679. Late Sequel of Meningococcemia: Skeletal Dysplasia
Karabulut G. S., Acar T., Yuksel A. B., ALANAY Y., Hatun S.
JOURNAL OF PEDIATRICS
, cilt.173, ss.264-266, 2016 (SCI-Expanded, Scopus)
2016
201680. Three 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
, cilt.25, sa.7, ss.760-765, 2016 (SCI-Expanded, Scopus)
2016
201681. Nonsense 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
, cilt.86, ss.167, 2016 (SCI-Expanded, Scopus)
2016
201682. Seizures and diagnostic difficulties in hyperinsulinism-hyperammonemia syndrome.
Aka S., ALANAY Y., Boodhansingh K. E., Stanley C. A., Semiz S.
The Turkish journal of pediatrics
, cilt.58, sa.5, ss.541-544, 2016 (SCI-Expanded, Scopus, TRDizin)
2016
201683. Intrauterine Imaging Strategies for Bone Disease
Alanay Y.
HORMONE RESEARCH IN PAEDIATRICS
, cilt.86, ss.13, 2016 (SCI-Expanded, Scopus)
2016
201684. Chromosome 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
, cilt.24, sa.1, ss.51-58, 2016 (SCI-Expanded, Scopus)
2015
201585. Hoyeraal-Hreidarsson Syndrome: An Extremely Rare Dyskeratosis Congenita Phenotype
Bakar O., Isik U., Canpolat C., ALANAY Y.
PEDIATRIC DERMATOLOGY
, cilt.32, sa.6, 2015 (SCI-Expanded, Scopus)
2015
201586. Novel 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
, cilt.10, 2015 (SCI-Expanded, Scopus)
2015
201587. RAP1-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
, cilt.125, sa.9, ss.3585-3599, 2015 (SCI-Expanded, Scopus)
2015
201588. Experience 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
, cilt.167, sa.9, ss.2065-2074, 2015 (SCI-Expanded, Scopus)
2015
201589. Mutations 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
, cilt.167, sa.7, ss.1501-1509, 2015 (SCI-Expanded, Scopus)
2015
201590. Exome 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
, cilt.134, sa.6, ss.553-568, 2015 (SCI-Expanded, Scopus)
2015
201591. Autosomal-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
, cilt.96, sa.5, ss.841-849, 2015 (SCI-Expanded, Scopus)
2015
201592. A 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
, cilt.167, sa.3, ss.461-475, 2015 (SCI-Expanded, Scopus)
2015
201593. Mutations 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
, cilt.47, sa.1, ss.73-78, 2015 (SCI-Expanded, Scopus)
2015
201594. A VARIANT CASE OF 6p24 DELETION SYNDROME (OMIM #612582)
Ergin R. N., Cigerciogullari E., Alanay Y., Yayla M.
GENETIC COUNSELING
, cilt.26, sa.2, ss.237-241, 2015 (SCI-Expanded, Scopus)
2014
201495. Prepubertal 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
, cilt.6, sa.4, ss.250-253, 2014 (SCI-Expanded, Scopus)
2014
201496. Partial 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
, cilt.23, sa.4, ss.147-151, 2014 (SCI-Expanded, Scopus)
2014
201497. A 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
, cilt.56, sa.4, ss.430-433, 2014 (SCI-Expanded, Scopus)
2014
201498. Etiological 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
, cilt.18, sa.3, ss.327-337, 2014 (SCI-Expanded, Scopus)
2014
201499. Methylene tetrahydrofolate reductase polymorphisms and homocysteine level in heart defects
ŞAHİNER Ü. M., ALANAY Y., ALEHAN D., TUNÇBİLEK E., ALİKAŞİFOĞLU M.
PEDIATRICS INTERNATIONAL
, cilt.56, sa.2, ss.167-172, 2014 (SCI-Expanded, Scopus)
2014
2014100. Cathepsin 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
, cilt.9, 2014 (SCI-Expanded, Scopus)
2014
2014101. XYLT1 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
, cilt.94, sa.3, ss.405-414, 2014 (SCI-Expanded, Scopus)
2014
2014102. Report of a Patient With Temple-Baraitser Syndrome
YEŞİL G., Guler S., Yuksel A., ALANAY Y.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.164, sa.3, ss.848-851, 2014 (SCI-Expanded, Scopus)
2014
2014103. Celiac 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
, cilt.56, sa.2, ss.154-159, 2014 (SCI-Expanded, Scopus)
2014
2014104. Striking 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
, cilt.61, sa.2, ss.302-305, 2014 (SCI-Expanded, Scopus)
2014
2014105. TMCO1 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
, cilt.164, sa.2, ss.291-304, 2014 (SCI-Expanded, Scopus)
2014
2014106. FKBP10 (FKBP65 Protein), Osteogenesis Imperfecta and Bruck Syndrome
Krakow D., ALANAY Y.
OSTEOGENESIS IMPERFECTA: A TRANSLATIONAL APPROACH TO BRITTLE BONE DISEASE
, ss.151-157, 2014 (Hakemli Dergi)
2014
2014107. A 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
, cilt.56, sa.1, ss.80-84, 2014 (SCI-Expanded, Scopus)
2014
2014108. Neurochemical 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
, cilt.164, sa.1, ss.99-105, 2014 (SCI-Expanded, Scopus)
2014
2014109. PARENTAL 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
, cilt.25, sa.1, ss.53-62, 2014 (SCI-Expanded, SSCI)
2013
2013110. A 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
, cilt.22, sa.25, ss.5121-5135, 2013 (SCI-Expanded, Scopus)
2013
2013111. Mutations 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
, cilt.1, sa.4, ss.223-237, 2013 (ESCI)
2013
2013112. Clinical 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
, cilt.34, sa.10, ss.1381-1386, 2013 (SCI-Expanded, Scopus)
2013
2013113. Three Patients Resembling Teebi-Shaltout Syndrome
Aldemir O., Ozen S., Erdem S., Kiraz A., Akarsu N., ALANAY Y.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
, cilt.161, sa.10, ss.2570-2575, 2013 (SCI-Expanded, Scopus)
2013
2013114. Clinical 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
, cilt.132, sa.8, ss.885-898, 2013 (SCI-Expanded, Scopus)
2013
2013115. A 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
, cilt.28, sa.7, ss.926-932, 2013 (SCI-Expanded, Scopus)
2013
2013116. Microdeletions 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
, cilt.21, 2013 (SCI-Expanded, Scopus)
2013
2013117. STRIKING 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
, cilt.98, ss.578, 2013 (SCI-Expanded, Scopus)
2013
2013118. Functional 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
, cilt.22, sa.8, ss.1643-1653, 2013 (SCI-Expanded, Scopus)
2013
2013119. Clinical 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
, cilt.83, sa.2, ss.181-186, 2013 (SCI-Expanded, Scopus)
2013
2013120. Laboratory Genetic Testing in Clinical Practice
ÇOĞULU M. Ö., ALANAY Y., Toruner G. A.
BIOMED RESEARCH INTERNATIONAL
, cilt.2013, 2013 (SCI-Expanded, Scopus)
2012
2012121. A 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
, cilt.47, sa.4, ss.319-321, 2012 (SCI-Expanded, Scopus, TRDizin)
2012
2012122. Further characterization of ATP6V0A2-related autosomal recessive cutis laxa
Fischer B., Dimopoulou A., Egerer J., Gardeitchik T., Kidd A., Jost D., et al.
HUMAN GENETICS
, cilt.131, sa.11, ss.1761-1773, 2012 (SCI-Expanded, Scopus)
2012
2012123. MRI findings of intracranial malformations in a case with Fraser syndrome
Yesilkaya Y., HIZAL M., Oguz K. K., ALANAY Y.
CLINICAL DYSMORPHOLOGY
, cilt.21, sa.4, ss.234-236, 2012 (SCI-Expanded, Scopus)
2012
2012124. Medical 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
, cilt.171, sa.10, ss.1567-1571, 2012 (SCI-Expanded, Scopus)
2012
2012125. IMPAD1 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
, cilt.158A, sa.9, ss.2183-2187, 2012 (SCI-Expanded, Scopus)
2012
2012126. The 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
, cilt.160C, sa.3, ss.217-229, 2012 (SCI-Expanded, Scopus)
2012
2012127. Further 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
, cilt.33, sa.8, ss.1261-1266, 2012 (SCI-Expanded, Scopus)
2012
2012128. Severe 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
, cilt.160C, sa.3, ss.230-237, 2012 (SCI-Expanded, Scopus)
2012
2012129. Wiedemann-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
, cilt.158A, sa.6, ss.1434-1436, 2012 (SCI-Expanded, Scopus)
2012
2012130. Disease-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
, cilt.33, sa.4, ss.665-673, 2012 (SCI-Expanded, Scopus)
2012
2012131. Arterial 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
, cilt.54, sa.2, ss.198-202, 2012 (SCI-Expanded, Scopus)
2012
2012132. Haploinsufficiency 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
, cilt.90, sa.2, ss.369-377, 2012 (SCI-Expanded, Scopus)
2012
2012133. Early 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 , cilt.29, sa.2, ss.108-111, 2012 (TRDizin)
2012
2012134. Hypophosphatasia 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
, cilt.4, sa.1, ss.34-38, 2012 (SCI-Expanded, Scopus)
2011
2011135. A review of the principles of radiological assessment of skeletal dysplasias
ALANAY Y., Lachman R. S.
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.3, sa.4, ss.163-178, 2011 (SCI-Expanded, Scopus)
2011
2011136. A 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
, cilt.130, sa.6, ss.715-724, 2011 (SCI-Expanded, Scopus)
2011
2011137. Craniosynostosis 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
, cilt.89, sa.5, ss.595-606, 2011 (SCI-Expanded, Scopus)
2011
2011138. Pentalogy 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
, cilt.54, sa.2, ss.83-86, 2011 (Scopus)
2011
2011139. A 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
, cilt.53, sa.5, ss.558-560, 2011 (SCI-Expanded, Scopus)
2011
2011140. Catel-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
, sa.9, ss.2288-2292, 2011 (SCI-Expanded, Scopus)
2011
2011141. Beals 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
, cilt.57, sa.3, ss.178-181, 2011 (SCI-Expanded, Scopus, TRDizin)
2011
2011142. Mutations 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
, cilt.89, sa.1, ss.7-14, 2011 (SCI-Expanded, Scopus)
2011
2011143. Spondyloenchondrodysplasia: a rare cause of short stature
Yesiltepe-Mutlu G., ÖZSU CAVGA E., ÇİZMECİOĞLU JONES F. M., ALANAY Y., Hatun S.
TURKISH JOURNAL OF PEDIATRICS
, cilt.53, sa.4, ss.464-466, 2011 (SCI-Expanded, Scopus)
2011
2011144. Molecular 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
, cilt.48, sa.6, ss.417-421, 2011 (SCI-Expanded, Scopus)
2011
2011145. KIF7 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
, cilt.43, sa.6, ss.601-607, 2011 (SCI-Expanded, Scopus)
2011
2011146. Rapid 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
, cilt.19, 2011 (SCI-Expanded, Scopus)
2011
2011147. Spondyloenchondrodysplasia 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
, cilt.29, sa.2, ss.430, 2011 (SCI-Expanded, Scopus)
2011
2011148. Genetic 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
, cilt.43, sa.2, ss.132-139, 2011 (SCI-Expanded, Scopus)
2011
2011149. PHENOTYPICAL 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
, cilt.34, 2011 (SCI-Expanded, Scopus)
2011
2011150. OPINIONS 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
, cilt.22, sa.4, ss.401-409, 2011 (SCI-Expanded, Scopus)
2011
2011151. Searching 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
, cilt.2, sa.2, ss.64-71, 2011 (Hakemli Dergi)
2010
2010152. Perinatal 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
, cilt.53, sa.3, ss.175-188, 2010 (Scopus)
2010
2010153. Cervical 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
, cilt.30, sa.6, ss.2052-2056, 2010 (SCI-Expanded, Scopus)
2010
2010154. Intracranial 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
, cilt.21, sa.5, ss.1460-1464, 2010 (SCI-Expanded, Scopus)
2010
2010155. FKBP10 and Bruck Syndrome: Phenotypic Heterogeneity or Call for Reclassification? Response
ALANAY Y., Krakow D.
AMERICAN JOURNAL OF HUMAN GENETICS
, cilt.87, sa.2, ss.308, 2010 (SCI-Expanded, Scopus)
2010
2010156. Disruption 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
, cilt.86, sa.5, ss.789-796, 2010 (SCI-Expanded, Scopus)
2010
2010157. Cowden syndrome with bronchial asthma
ÖZSÜREKCİ Y., Yavuz S. T., ALANAY Y., ÜTİNE G. E., Kalayci O.
TURKISH JOURNAL OF PEDIATRICS
, cilt.52, sa.3, ss.330-332, 2010 (SCI-Expanded, Scopus)
2010
2010158. Mutations 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
, cilt.86, sa.4, ss.551-559, 2010 (SCI-Expanded, Scopus)
2010
2010159. A 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
, sa.4, ss.875-885, 2010 (SCI-Expanded, Scopus)
2010
2010160. A 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
, sa.4, ss.947-949, 2010 (SCI-Expanded, Scopus)
2010
2010161. Clinical 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
, cilt.169, sa.3, ss.363-367, 2010 (SCI-Expanded, Scopus)
2010
2010162. Disruption 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
, cilt.86, sa.2, ss.254-261, 2010 (SCI-Expanded, Scopus)
2010
2010163. Hemihyperplasia-multiple lipomatosis syndrome: an underdiagnosed entity in children with asymmetric overgrowth
Boybeyi Ö., ALANAY Y., Kayikcioglu A., KARNAK İ.
JOURNAL OF PEDIATRIC SURGERY
, cilt.45, sa.1, 2010 (SCI-Expanded, Scopus)
2010
2010164. OBSL1 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
, cilt.31, sa.1, ss.20-26, 2010 (SCI-Expanded, Scopus)
2009
2009165. Homozygous 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
, cilt.85, sa.6, ss.916-922, 2009 (SCI-Expanded, Scopus)
2009
2009166. Identification 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
, cilt.85, sa.5, ss.706-710, 2009 (SCI-Expanded, Scopus)
2009
2009167. ALX4 dysfunction disrupts craniofacial and epidermal development
Kayserili H., Uz E., Niessen C., VARGEL İ., ALANAY Y., Tuncbilek G., et al.
HUMAN MOLECULAR GENETICS
, cilt.18, sa.22, ss.4357-4366, 2009 (SCI-Expanded, Scopus)
2009
2009168. Mild 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
, cilt.51, sa.5, ss.493-496, 2009 (SCI-Expanded, Scopus)
2009
2009169. Infantile Systemic Hyalinosis: A Case Report
Gunduz O., ERSOY EVANS S., BODUROĞLU O. K., ALANAY Y., Ozkaya O.
TURKDERM-TURKISH ARCHIVES OF DERMATOLOGY AND VENEROLOGY
, cilt.43, sa.3, ss.112-115, 2009 (SCI-Expanded, Scopus, TRDizin)
2009
2009170. Identification 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
, cilt.46, sa.8, ss.562-568, 2009 (SCI-Expanded, Scopus)
2009
2009171. Wilms 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
, cilt.53, sa.2, ss.208-210, 2009 (SCI-Expanded, Scopus)
2009
2009172. Le Fort III Bipartition Osteotomy to Treat a Rare Craniofacial Anomaly: Frontofacionasal Dysostosis
Tuncbilek G., ALANAY Y., Kayikcioglu A.
JOURNAL OF CRANIOFACIAL SURGERY
, cilt.20, sa.4, ss.1056-1058, 2009 (SCI-Expanded, Scopus)
2009
2009173. Partial 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
, sa.6, ss.1317-1318, 2009 (SCI-Expanded, Scopus)
2009
2009174. Rare 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
, cilt.51, sa.3, ss.294-297, 2009 (SCI-Expanded, Scopus)
2009
2009175. PORCN Mutations in Focal Dermal Hypoplasia: Coping with Lethality
Bornholdt D., Oeffner F., Koenig A., Happle R., ALANAY Y., Ascherman J., et al.
HUMAN MUTATION
, cilt.30, sa.5, 2009 (SCI-Expanded, Scopus)
2009
2009176. Subtelomeric 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
, cilt.51, sa.3, ss.199-206, 2009 (SCI-Expanded, Scopus)
2009
2009177. TBX15 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
, cilt.168, sa.3, ss.379, 2009 (SCI-Expanded, Scopus)
2009
2009178. A 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
, cilt.87, sa.1, ss.52-57, 2009 (SCI-Expanded, Scopus)
2008
2008179. Cyclic pamidronate treatment in Bruck syndrome: Proposal of a new modality of treatment
Andiran N., ALİKAŞİFOĞLU A., ALANAY Y., YORDAM N.
PEDIATRICS INTERNATIONAL
, cilt.50, sa.6, ss.836-838, 2008 (SCI-Expanded, Scopus)
2008
2008180. TBX15 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
, cilt.83, sa.5, ss.649-655, 2008 (SCI-Expanded, Scopus)
2008
2008181. Unilateral Peters' anomaly in an infant with 22q11.2 deletion syndrome
Erdogan M. K., ÜTİNE G. E., ALANAY Y., Aktas D.
CLINICAL DYSMORPHOLOGY
, cilt.17, sa.4, ss.289-290, 2008 (SCI-Expanded, Scopus)
2008
2008182. Evaluation 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
, sa.15, ss.1917-1924, 2008 (SCI-Expanded, Scopus)
2008
2008183. Cryptic 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
, cilt.51, sa.4, ss.343-350, 2008 (SCI-Expanded, Scopus)
2008
2008184. Pseudo-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
, cilt.50, sa.3, ss.287-290, 2008 (SCI-Expanded, Scopus)
2008
2008185. Clinical 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
, cilt.146A, sa.6, ss.770-778, 2008 (SCI-Expanded, Scopus)
2008
2008186. KABUKI SYNDROME AND TRISOMY 10p
Utine G. E., ALANAY Y., Aktas D., BODUROĞLU O. K., Alikasifoglu M., Tuncbilek E.
GENETIC COUNSELING
, cilt.19, sa.3, ss.291-300, 2008 (SCI-Expanded, Scopus)
2007
2007187. Dynamic 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
, cilt.107, ss.504-507, 2007 (SCI-Expanded, Scopus)
2007
2007188. Distal 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
, cilt.27, sa.9, ss.865-871, 2007 (SCI-Expanded, Scopus)
2007
2007189. Infantile systemic hyalinosis, a case report
Gunduz O., Evans S. E., Boduroglu K., ALANAY Y., Ozkaya O.
VIRCHOWS ARCHIV
, cilt.451, sa.2, ss.535, 2007 (SCI-Expanded, Scopus)
2007
2007190. Cavernous malformation with Poland-Mijbius syndrome - Case illustration
MUT AŞKUN M., Palaoglu S., ALANAY Y., Ismailoglu O., Tuncbilek E.
JOURNAL OF NEUROSURGERY
, cilt.107, sa.1, ss.79, 2007 (SCI-Expanded, Scopus)
2007
2007191. Angulated 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
, sa.11, ss.1159-1168, 2007 (SCI-Expanded, Scopus)
2007
2007192. Cerebro-facio-thoracic dysplasia: expanding the phenotype
Cilliers D., ALANAY Y., BODUROĞLU O. K., Utine E., Tuncbilek E., Clayton-Smith J.
CLINICAL DYSMORPHOLOGY
, cilt.16, sa.2, ss.121-125, 2007 (SCI-Expanded, Scopus)
2007
2007193. A 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
, cilt.44, sa.2, ss.89-98, 2007 (SCI-Expanded, Scopus)
2007
2007194. A 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
, cilt.51, ss.151-161, 2007 (SCI-Expanded, SSCI, Scopus)
2007
2007195. The 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
, cilt.1117, ss.302-309, 2007 (SCI-Expanded, Scopus)
2006
2006196. Terminal 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
, cilt.36, sa.9, ss.970-973, 2006 (SCI-Expanded, Scopus)
2006
2006197. Congenital contractural arachnodactyly (Beals syndrome)
Tuncbilek E., Alanay Y.
ORPHANET JOURNAL OF RARE DISEASES
, cilt.1, 2006 (SCI-Expanded, Scopus)
2006
2006198. Spondylo-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
, cilt.140A, sa.6, ss.652-656, 2006 (SCI-Expanded, Scopus)
2006
2006199. Spondyloenchondrodysplasia 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
, sa.6, ss.541-550, 2006 (SCI-Expanded, Scopus)
2005
2005200. Analysis 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
, cilt.47, sa.4, ss.327-333, 2005 (SCI-Expanded, Scopus)
2005
2005201. Is 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
, sa.3, ss.265-268, 2005 (SCI-Expanded, Scopus)
2005
2005202. MTHFR 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
, sa.4, ss.461-462, 2005 (SCI-Expanded, Scopus)
2005
2005203. Response to the letter to "MTHTR 677C-T polymorphism is not excluded as maternal risk for Down syndrome among Turkish women"
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2005
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2005
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2004
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2004
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2004
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2004
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2004
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2003
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2001
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PEDIATRIC DERMATOLOGY
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2019
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2019
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2018
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2018
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51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), Milan, İtalya, 16 - 19 Haziran 2018, cilt.27, ss.130, (Özet Bildiri)
2018
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2019
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2019
201939. BİLEŞİK HETEROZİGOT GALNS MUTASYONU İLE TANI ALAN KLASİK OLMAYAN MUKOPOLİSAKKARİDOZ TİP IVA
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2017
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2018
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European Human Genetics Conference, 16 - 19 Haziran 2018, (Tam Metin Bildiri)
2018
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Ulusal Tıp Eğitimi Kongresi 2018, İzmir, Türkiye, 9 - 12 Mayıs 2018, cilt.1, sa.453687, ss.1-2, (Özet Bildiri)
2018
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2018
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6. uluslararası katılımlı lizozomal hastalıklar kongresi, Türkiye, 11 - 15 Nisan 2018, (Özet Bildiri)
2017
201745. Targeted custom gene panel sequencing for cardiac ion channelopathies: Efficiently detects candidate pathogenic mutations in Long QT syndrome
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European Biotechnology Congress, Dubrovnik, Hırvatistan, 25 - 27 Mayıs 2017, cilt.256, (Özet Bildiri)
2017
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ABUR Ü., OĞUR M. G., AYKUT A., ALANAY Y.
Erciyes Medical Journal, 11 - 13 Mayıs 2017, cilt.39, (Özet Bildiri)
2017
201747. Identification of Molecular Pathology of Peters’ Anomaly Segregating in a Large Autosomal Dominant Family
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10th International Symposium on Health Informatics and Bioinformatics (HIBIT 2017), KALKANLI, GUZELYURT, Kıbrıs (Kktc), 29 - 30 Haziran 2017, (Tam Metin Bildiri)
0
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Yararbas K., Sayar C., Tumer S., Tavukcu C., Oncu N., Ozciger D., et al.
cilt.10, (Özet Bildiri)
2017
201749. Baraitser-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 Mayıs 2017, (Özet Bildiri)
2017
201750. Mitokondriyal 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, Türkiye, 19 - 23 Nisan 2017, (Özet Bildiri)
2017
201751. Seçmeli 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, Türkiye, 15 - 17 Mart 2017, cilt.1, sa.186, ss.1-2, (Özet Bildiri)
2016
201652. Clinical 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 Ağustos 2016, (Tam Metin Bildiri)
2016
201653. Detection 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, Hollanda, 15 - 18 Haziran 2016, cilt.29, ss.21-22, (Özet Bildiri)
2016
201654. Meier 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 Mayıs 2016, (Tam Metin Bildiri)
2016
201655. OBSL1 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 Mayıs 2016, (Tam Metin Bildiri)
2016
201656. Detection 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, Türkiye, 11 - 15 Mayıs 2016, (Özet Bildiri)
2016
201657. Parsiyel Trizomi 19p13 ile iliişkili bir immün yetmezlik
BOZDOĞAN G., VARDAR G., ÇITAK A., ERTEKİN V., ALANAY Y.
2. Klinik İmmunoloji Kongresi, Türkiye, 31 Mart - 03 Nisan 2016
2016
201658. Parsiyel Trizomi 19 9 ile ilşkili bir İmmün Yetmezlik
BOZDOĞAN G., VARDAR G., ÇITAK A., ERTEKİN V., ALANAY Y.
2. Klinik İmmonoloji Kongresi, Türkiye, 31 Mart - 03 Nisan 2016
2015
201559. 3M 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, Türkiye, 22 - 24 Ekim 2015
2015
201560. A 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 Ekim 2015
2015
201561. 3D 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 Eylül 2015
2015
201562. CLINICAL 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 Temmuz - 01 Ağustos 2015, (Özet Bildiri)
2015
201563. Spotlight 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 Haziran 2015, (Tam Metin Bildiri)
2015
201564. Spotlight 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 Haziran 2015, (Özet Bildiri)
2015
201565. Spotlight 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 Haziran 2015, (Özet Bildiri)
2012
201266. Bir 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, Türkiye, 6 - 10 Kasım 2012, (Özet Bildiri)
2011
201167. Cabezas Sendromu
ÖZSU E., RAHİME GÜL Y. M., ÇİZMECİOĞLU F. M., ALANAY Y., HATUN Ş.
15. Ulusal Pediatrik Endokrinoloji ve Diyabet Kongresi, İzmir, Türkiye, 23 - 26 Kasım 2011, (Özet Bildiri)
2011
201168. Metabolik 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, Türkiye, 23 - 26 Kasım 2011, (Özet Bildiri)
2010
201069. BİR 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, Türkiye, 4 - 10 Ekim 2010, (Özet Bildiri)
2009
200970. Two 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 Eylül 2009, (Özet Bildiri)
2009
200971. Rapid 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, İsveç, 4 - 07 Temmuz 2009, cilt.17, ss.209, (Özet Bildiri)
2007
200772. Two 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, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.70-71, (Özet Bildiri)
2007
200773. Unilateral 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, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.100, (Özet Bildiri)
2007
200774. Clinical 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, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.96, (Özet Bildiri)
2007
200775. Partial monosomy of distal 6q
Utine E., ALANAY Y., Aktas D., Boduroglu K., Alikasifoglu A., Tuncbilek E.
6th European Cytogenetics Conference, İstanbul, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.70, (Özet Bildiri)
2007
200776. The 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, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.70, (Özet Bildiri)
2007
200777. Chromosomal 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, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.84, (Özet Bildiri)
2007
200778. Bloom 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, Türkiye, 7 - 10 Temmuz 2007, cilt.15, ss.142-143, (Özet Bildiri)
Kitaplar
2021
20211. Akondroplazi
AKGÜN DOĞAN Ö., ALANAY Y.
Çocuk Genetik Hastalıkları, Mıhçı, Ercan, Editör, Türkiye Klinikleri Yayınevi, Ankara, ss.66-71, 2021
2019
20192. Genetik Danışma
AKGÜN DOĞAN Ö., ALANAY Y.
Cerebral Palsy ve Genetik, Özbek Uğur, Akçakaya Nihan Hande, Editör, Boyut Yayınevi, İstanbul, ss.57-65, 2019
2017
20173. Kısım 10 Klinik Genetik ve Dismorfoloji, İskeletin Genetik Hastalıkları
ŞİMŞEK KİPER P. Ö., ALANAY Y.
Yurdakök Pediatri, Murat Yurdakök, Editör, Güneş Tıp Kitabevi, Ankara, ss.2024-2047, 2017
Desteklenen Projeler
2024 - 2027
2024 - 2027
Arid1b Ile İlişkili Bozuklukta Gelişimsel İlerleme Alanları - Çok Yöntemli Çok Merkezli Prospektif Doğal Seyir Çalışması
Diğer Uluslararası Fon Programları
Akgün Doğan Ö., Sütçübaşı B., Alanay Y.
2024 - 2026
2024 - 2026
Tanısız İskelet Displazisi Hastalarında WES/WGS Verilerinin Multidisipliner Tekrar Analizi ve Yeniden Fenotipleme ile Birleştirilmesi'
TÜBİTAK Uluslararası İkili İşbirliği Projesi , 2505 - Fransa Ulusal Araştırma Ajansı (CNRS) ile İkili İşbirliği Programı
(Proje Özeti)
Akgün Doğan Ö., Alanay Y. (Yürütücü), Abalı S., Özdemir Ö.
2024 - 2025
2024 - 2025ARID1B İle İlişkili Bozuklukta Gelişimsel İlerleme Alanları - Çok Yöntemli Çok Merkezli Prospektif Doğal Seyir Çalışması
Diğer Resmi Kurumlarca Desteklenen Proje
Akgün Doğan Ö.(Yürütücü), Alanay Y., Özek M.
2024 - 2025
2024 - 2025Acıbadem Üniversitesi Tıp Fakültesi'nde Kraniosinostoz Kayıt Sisteminin Oluşturulması: Ulusal Kayıt Sistemi için Temel Oluşturma Çalışması (Establishing a Craniosynostosis Registry in Acibadem Universty School of Medicine, Turkey: A Nucleus for a National Registry)
Diğer Resmi Kurumlarca Desteklenen Proje
Akgün Doğan Ö. (Yürütücü), Alanay Y., Özek M.
2024 - 2025
2024 - 2025Progresif Psödoromatoid Displazi Hastalığı Geni Olan CCN6de in vitro Oluşturulan Patojenik Varyantların Fonksiyonel Analizleri
Diğer Resmi Kurumlarca Desteklenen Proje , BAP Diğer
TAHİR TURANLI E. (Yürütücü), GÜVEN G., ALANAY Y.
2023 - 2025
2023 - 2025Herediter Spastik Paraparezili Bir Ailede Klinik İnceleme ve ERLIN1 Geninin Hastalık Patofizyolojisindeki Yerinin Aydınlatılması
Yükseköğretim Kurumları Destekli Proje , BAP Diğer
ALANAY Y. (Yürütücü)
2022 - 2024
2022 - 2024Progresif Psödoromatoid Displazi Geni olan CCN6’daki Patojenik Varyantların İşlevsel Analizleri İçin Kondrosit Hücre Hatlarında Modellenmesi
TÜBİTAK Projesi , 1002 - Hızlı Destek Programı
Güven G. (Yürütücü), Alanay Y., Tahir Turanlı E.
2022 - 2024
2022 - 2024İStanbul Tanısız ve NAdir Hastalıklara Çözüm Platformu-İSTisNA
Kalkınma Ajansı
Bilgüvar K., Hatırnaz Ng Ö. (Yürütücü), Özdemir Ö., Akgün Doğan Ö., Alanay Y., Özbek U.
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
Yükseköğretim Kurumları Destekli Proje , BAP Araştırma Projesi
(Proje Özeti)
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”
Yükseköğretim Kurumları Destekli Proje , BAP Diğer
Akgün Doğan Ö., Alanay Y., Hatırnaz Ng Ö., Açıkel Elmas M.
2019 - 2023
2019 - 2023Avrupa Nadir Hastalıklar Araştırma Programı
AB Çerçeve Programları Destekli Proje , H2020 Araştırma Altyapı Projeleri
(Proje Özeti)
Özbek U., Alanay Y., Sezerman O. U., Julkowska D.(Yürütücü)
2020 - 2021
2020 - 2021Albinizm Hastalıklarında gen varyantlarının ekzom analizi ile belirlenmesi
Yükseköğretim Kurumları Destekli Proje , BAP Araştırma Projesi
Hatırnaz Ng Ö. (Yürütücü), Özbek U., Alanay Y.
2019 - 2021
2019 - 2021Bireysel ve Dönüşümsel Tıp Alanındaki Uygulamalı Proje Çağrısı: Albinizm
Türkiye Sağlık Enstitüleri Başkanlığı (TÜSEB) Araştırma Projesi
Hatırnaz Ng Ö., Özbek U. (Yürütücü), Alanay Y.
2019 - 2021
2019 - 2021İSTisNA – İStanbul Tanısız ve NAdir Hastalıklara Çözüm Platformu Fizibilite Projesi
Kalkınma Ajansı
(Proje Özeti)
Özbek U. (Yürütücü), Hatırnaz Ng Ö., Alanay Y.
2016 - 2021
2016 - 2021Akondroplazisi olan pediatrik hastalar için çok merkezli, çok uluslu klinik değerlendirme
Diğer Ülkelerdeki Özel Organizasyonlar Tarafından Desteklenmiş Proje
(Proje Özeti)
Karaayvaz S., Alanay Y., Abalı S.
2019 - 2020
2019 - 2020Lösemi ve lenfomaya genetik yatkınlık
Yükseköğretim Kurumları Destekli Proje , BAP Araştırma Projesi
Özbek U. (Yürütücü), 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
Diğer Ülkelerdeki Özel Organizasyonlar Tarafından Desteklenmiş Proje
(Proje Özeti)
Karaayvaz S., Alanay Y., Abalı S.
Bilimsel Dergilerdeki Faaliyetler
2023 - Devam Ediyor
2023 - Devam EdiyorEUROPEAN JOURNAL OF MEDICAL GENETICS
Editörler Kurulu Üyesi
2010 - Devam Ediyor
2010 - Devam EdiyorAmerican Journal Of Medical Genetics Part A
Editörler Kurulu Üyesi
2010 - Devam Ediyor
2010 - Devam EdiyorClinical Dysmorphology
Editörler Kurulu Üyesi
Bilimsel Kuruluşlardaki Üyelikler / Görevler
2011 - Devam Ediyor
2011 - Devam Ediyor
Çocuk Genetik Hastalıkları Derneği
Üye
2009 - Devam Ediyor
2009 - Devam EdiyorTürk Pediatri Kurumu
Üye
2005 - Devam Ediyor
2005 - Devam EdiyorInternational Skeletal Dysplasia Society
Üye
2003 - Devam Ediyor
2003 - Devam EdiyorEuropean Society of Human Genetics
Üye
2002 - Devam Ediyor
2002 - Devam EdiyorMilli Pediatri Derneği
Üye