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 ... -
Rare heterozygous genetic variants of NRXN and NLGN gene families involved in synaptic function and their association with neurodevelopmental disorders
Çelebi, Hamide Betül Gerik; Bolat, Hilmi; Bolat, Gül Ünsel (John Wiley and Sons, 2024)The interaction of neurexins (NRXNs) in the presynaptic membrane with postsynaptic cell adhesion molecules called neuroligins (NLGNs) is critical for this synaptic function. Impaired synaptic functions are emphasized in ... -
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 ...
