Atıf İçin Kopyala
Okten G., Gunes S., Onat O. E., Tukun A., Ozcelik T., Kocak I.
SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE, cilt.59, sa.4, ss.218-222, 2013 (SCI-Expanded)
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Yayın Türü:
Makale / Tam Makale
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Cilt numarası:
59
Sayı:
4
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Basım Tarihi:
2013
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Doi Numarası:
10.3109/19396368.2013.769028
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Dergi Adı:
SYSTEMS BIOLOGY IN REPRODUCTIVE MEDICINE
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Derginin Tarandığı İndeksler:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Sayfa Sayıları:
ss.218-222
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Anahtar Kelimeler:
HDX gene, premature ovarian failure, X chromosome inactivation, X;autosome translocation, X-CHROMOSOME, CRITICAL REGION, TRANSLOCATIONS
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Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli:
Hayır
Özet
We present a case of a 19-year-old phenotypically normal girl with premature ovarian failure. Cytogenetic analysis using G banding and fluorescence in situ hybridization (FISH) from cultured peripheral blood lymphocytes of the patient and the family revealed a de novo X; 15 translocation and the imbalance to be 46, X, t(X; 15)(Xpter -> Xq21::15q11 -> 15qter; 15pter -> 15q11::Xq21 -> Xqter).