Konu "Tıbbi Genetik" için Dokümanı Olanlar listeleme
Toplam kayıt 10, listelenen: 1-10
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A case report of a rare nonsense ZP1 variant in a patient with oocyte maturation defect
Introduction: Oocyte maturation defect (OOMD) is a rare condition causing female infertility that can be diagnosed during assisted reproduction techniques (ART). OOMD related genes are ZP1, ZP2, ZP3, PANX1, PATL2, TUBB8, ... -
Alport sendromlu 15 olgunun klinik ve moleküler bulguları
Amaç: Alport Sendromu (AS) hematüri, proteinüri, sensörinöral işitme kaybı, göz anomalileri ve ileri yaşta böbrek yetersizliği ilekarakterize ilerleyici böbrek hastalığıdır. Otozomal resesif ve dominant formları COL4A3/COL4A4, ... -
Alterations in Promoter Methylation Status of Tumor Suppressor HIC1, SFRP2, and DAPK1 Genes in Prostate Carcinomas
Hypermethylated genomic DNA is a common feature in tumoral tissues, although the prevalence of this modification remains poorly understood. We aimed to determine the frequency of five tumor suppressor (TS) genes in prostate ... -
MECP2 Spektrumundan Etkilenmiş 27 Olgunun Klinik ve Moleküler Bulguları
Giriş: MECP2-ilişkili fenotipler dişilerde tipik/atipik Rett sendromundan (RTT) hafif öğrenme güçlüğüne kadar değişkenlikgöstermekte, erkeklerde genellikle neonatal ensefalopati veya ağır sendromik/nonsendromik bilişsel ... -
Mutational landscape of severe combined immunodeficiency patients from Turkey.
Severe combined immunodeficiency (SCID) has a diverse genetic aetiology, where a clinical phenotype, caused by single and/or multiple gene variants, can give rise to multiple presentations. The advent of next-generation ... -
NOONAN SENDROMU’NUN PRENATAL TANISINDA PTPN11 GEN ANALİZLERİNİN ETKİNLİĞİ
(2021)Amaç: Hücre büyüme, farklılaşma, yaşlanma ve siklus düzenlenmesindeönemli rol oynayan RAS-MAPK (Rat-sarcoma-Mitogen-activated-protein-kinase) yolağında bulunan 29 gendeki dominantpatojenik varyantların yol açtığı klinik ... -
Soluble TNF-Like Weak Inducer of Apoptosis as a New Marker in Preeclampsia: A Pilot Clinical Study
Introduction. All findings of preeclampsia appear as the clinical consequences of diffuse endothelial dysfunction. Soluble tumor necrosis factor-like weak inducer of apoptosis (sTWEAK) was recently introduced as a TNF ...