Yazar "Kocak, Idris" için listeleme
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Antenatal Diagnosis of Partial Trisomy 8 and Partial Monosomy 1: A Case Report
Guven, Davut; Bakay, Kadir; Ozdemir, Ayse; Kocak, Idris (Kamla-Raj Enterprises, 2012)A case of prenatally diagnosed partial trisomy 8 and partial monosomy 1 is described. The syndrome is associated with skeletal and cardiac anomalies, as well as hepatic calcification, presented with severe central nervous ... -
The combined QF-PCR and cytogenetic approach in prenatal diagnosis
Tekcan, Akin; Tural, Sengul; Elbistan, Mehmet; Kara, Nurten; Guven, Davut; Kocak, Idris (Springer, 2014)In this study, the importance of quantitative fluorescence polymerase chain reaction (QF-PCR) aneuploidy diagnosis test which provides earlier and easier results were discussed. The cell cultures and DNA isolations were ... -
Cytogenetic Findings of Patients with Amenorrhea in Turkish Population: A Retrospective Study
Kara, Nurten; Tural, Sengul; Elbistan, Mehmet; Karakus, Nevin; Guven, Davut; Kocak, Idris (Kamla-Raj Enterprises, 2012)We performed a retrospective study, with the purpose of establishing the frequency of chromosomal anomalies in amenorrhea cases referred to our genetic laboratory from hospitals in the Middle Black Sea of Turkey. In this ... -
Disruption of HDX gene in premature ovarian failure
Okten, Gulsen; Gunes, Sezgin; Onat, Onur Emre; Tukun, Ajlan; Ozcelik, Tayfun; Kocak, Idris (Taylor & Francis Inc, 2013)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 ... -
Effects of FSHR Gene Variants on Ovarian Response
Gulhan, Cayci; Ozdemir, Ayse Z.; Onal, Mesut; Tural, Sengul; Guven, Davut; Kocak, Idris (Kamla-Raj Enterprises, 2020)The study aimed to evaluate the effects of Follicle Stimulating Hormone Receptor (FSHR) gene rs747317735 and rs6111 variants on ovarian response. The researchers evaluated 57 cases (27of them were poor ovarian responders, ... -
De Novo Balanced (X;14) Translocation in a Patient with Recurrent Miscarriages: Case Report
Pinarli, Ferda Alpaslan; Okten, Gulsen; Ozcelik, Tayfun; Kara, Nurten; Gunes, Sezgin; Kocak, Idris (Ortadogu Ad Pres & Publ Co, 2011)We report a 23-year-old phenotypically normal female patient who had previously suffered from recurrent spontaneous abortion (RSA) who found to have an X;14 trans location and a Methylene- Tetrahdrofolate-Reductase (MTHFR) ... -
Trisomy Xq and Xp Deletion Phenotype in a Case with Primary Amenorrhea and Mosaic 45,X/46,X,der(X) Karyotype: Case Report
Kara, Nurten; Okten, Gulsen; Tural, Sengul; Artan, Sevilhan; Sezer, Ozlem; Kocak, Idris (Ortadogu Ad Pres & Publ Co, 2011)The samples of a 18-year-old girl who had a short stature and complaints of hair loss and amenorrhea were sent to our laboratory with a pre-diagnosis of primary amenorrhea. We tried to explain genotype-phenotype relationship ...
