Yazar "Çelebi, Hamide Betül Gerik" için listeleme
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Association of ABCA13 gene variants with autism spectrum disorder and other neuropsychiatric disorders
Çelebi, Hamide Betül Gerik; Bolat, Gül Ünsel; Bolat, Hilmi (Karger, 2023)Introduction: Autism spectrum disorder (ASD) is a neuropsychiatric disorder characterized by impaired social skills and limited or repetitive behaviors. In this study, we investigated the role of the ABCA13 gene in the ... -
BRCA and non-BRCA variants detected by next generation sequencing in patients with hereditary breast and|or ovarian cancer syndrome
Introduction: Breast cancer is the most frequently diagnosed female cancer according to the 2020 data of the World Health Organization. It is mostly sporadic, 10-15% of which occur on the basis of genetic predisposition. ... -
Clinical and genetic characteristics of patients with unexplained intellectual disability/developmental delay without epilepsy
Çelebi, Hamide Betül Gerik; Aydın, Hilal; Bolat, Hilmi; Bolat, Gül Ünsel (Karger, 2023)Introduction: Global developmental delay (DD), intellectual disability (ID), and autism spectrum disorder (ASD) are mainly evaluated under the neurodevelopmental disorder framework. In this study, we aimed to determine the ... -
Complementary approaches in fetal genetic diagnosis: Decision-making process and alternative choices for clinicians in a secondary health care institution
Bolat, Hilmi; Çelebi, Hamide Betül Gerik; Karahanoğlu, Ertuğrul (Taylor & Francis Inc, 2021)Objectives: The aim of this study was to determine indications of invasive, genetic results of conventional karyotyping and chromosomal microarray analysis and culture failure rates to discuss possible solution options ... -
Gelişim geriliği/entellektüel yetersizliği olan çocuklarda etiyolojiye yönelik genetik testlerin planlama ve değerlendirmesinde güncel durum: Tek merkez deneyimi
Bolat, Hilmi; Çelebi, Hamide Betül Gerik; Bolat, Gül Ünsel; Geniş, Esra Çolak; Demircan, Özge; Çam, Fethi Sırrı (Manisa Celal Bayar Üniversitesi Sağlık Bilimleri Enstitüsü, 2022)Giriş ve Amaç: Gelişim geriliği (GG) ve entelektüel yetersizlik (EY) fenotipik ve genetik olarak heterojen bir grup hastalıktır. GG/EY olguların etiyolojisinde altta yatan önemli bir kısmını genetik nedenler oluşturmaktadır. ... -
Gelişim Geriliği|Entellektüel Yetersizliği Olan Çocuklarda Etiyolojiye Yönelik Genetik Testlerin Planlama ve DeğerlendirmesindeGüncel Durum: Tek Merkez Deneyimi
Geniş, Esra Çolak; Bolat, Gül Ünsel; Bolat, Hilmi; Demircan, Özge; Çelebi, Hamide Betül Gerik; Çam, Fethi Sırrı (2022)Giriş ve Amaç: Gelişim geriliği (GG) ve entelektüel yetersizlik (EY) fenotipik ve genetik olarak heterojen bir grup hastalıktır. GG/EY olguların etiyolojisinde altta yatan önemli bir kısmını genetik nedenler oluşturmaktadır. ... -
Hereditary hypomagnesemia with secondary hypocalcemia caused by a novel mutation in TRPM6 gene
Çetin, İpek Dokurel; Çelebi, Hamide Betül Gerik; Demiral, Meliha; Çetin, Orkun (Walter De Gruyter GMBH, 2023)Objectives: Hereditary hypomagnesemia with secondary hypocalcemia (HSH), which results from variations in the transient receptor potential melastatin 6 (TRPM6) genes, is a rare hereditary cause of extremely low serum ... -
The role of next generation sequencing in diagnosis of patients with rare syndromic short stature
Bolat, Hilmi; Çelebi, Hamide Betül Gerik (Gazi Univ, 2022)Objective: To examine the genetic causes of short stature, algorithms are applied to make the diagnosis in a stepwise manner by applying different genetic technique options at different stages of diagnosis, depending on ...
