Yazar "Bolat, Hilmi" 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 ... -
Autosomal recessive primary microcephaly (MCPH) and novel pathogenic variants in ASPM and WDR62 genes
Bolat, Hilmi; Sağer, Safiye Güneş; Türkyılmaz, Ayberk; Çebi, Alper Han; Akın, Yasemin; Onay, Hüseyin; Özkınay, Ferda; Bolat, Gül Ünsel (Karger, 2022)Introduction: Autosomal recessive primary microcephaly (MCPH) is a disorder characterized by congenital microcephaly and intellectual disability without extra-central nervous system malformation. MCPH is a disease with ... -
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 ... -
Cohen syndrome: Can early-onset recurrent infections and hypotonia provide early diagnosis and intervention for intellectual disability?
Bolat, Gül Ünsel; Çelebi, Ezgi Keskin; Bolat, Hilmi (John Wiley and Sons Inc, 2024)Introduction: Cohen syndrome is a rare disease associated with neurodevelopmental disorders, especially intellectual disability (ID), neutropenia and recurrent infections are consistently reported in cases. Neutropenia is ... -
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 ... -
Distinct autism spectrum disorder phenotype and hand-flapping stereotypes: Two siblings with novel homozygous mutation in TRAPPC9 gene and literature review
Bolat, Hilmi; Bolat, Gül Ünsel; Derin, Hatice; Şen, Aşkın; Ceylaner, Serdar (Karger, 2022)Objective: Pathogenic mutations of the TRAPPC9 gene are the rare genetic causes of autosomal recessive intellectual disability (ID). There are several features that are not fully penetrant such as microcephaly, dysmorphic ... -
Down sendromu tanılı olgularda aile ve çocuğa ait sosyodemografik özelliklerin değerlendirilmesi
Bolat, Hilmi; Bolat, Gül Ünsel (Balıkesir Üniversitesi, 2022)Amaç: Çalışmanın amacı Down Sendromu (DS) tanılı çocuklara ve ailelerine ait sosyo-demografik özelliklerinin belirlenmesi, gebelik döneminde tarama ve tanı olanaklarına ulaşım oranlarının ve doğum sonrası gerekli sağlık ... -
DRD4 genotyping may differentiate symptoms of attention-deficit/hyperactivity disorder and sluggish cognitive tempo
Bolat, Hilmi; Ercan, Eyüp S.; Bolat, Gül Ünsel; Tahıllıoğlu, Akın; Yazıcı, Kemal U.; Bacanlı, Ali; Parıltay, Erhan; Jafari, Duygu Aygüneş (Assoc Brasileira Psiquiatria, 2020)Objective: Studies to reduce the heterogeneity of attention-deficit/hyperactivity disorder (ADHD) have increased interest in the concept of sluggish cognitive tempo (SCT). The aim of this study was to investigate if the ... -
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. ... -
Investigation of patients with childhood epilepsy in single center: Comprehensive genetic testing experience
Çelebi, Hamide Betul Gerik; Çetin, İpek Dokurel; Bolat, Hilmi; Bolat, Gül Ünsel (Wiley, 2024)Introduction: Epilepsy is a common multifactorial neurological disease usually diagnosed during childhood. In this study, we present the contribution of consecutive genetic testing to the genetic diagnostic yield of childhood ... -
Investigation of possible associations of the BDNF, SNAP-25 and SYN III genes with the neurocognitive measures: BDNF and SNAP-25 genes might be involved in attention domain, SYN III gene in executive function
Bolat, Hilmi; Bolat, Gül Ünsel; Özgül, Semiha; Parıltay, Erhan; Tahıllıoğlu, Akın; Rohde, Luis Augusto; Akın, Haluk (Taylor & Francis Ltd, 2022)Objectives Attention-deficit/hyperactivity disorder (ADHD) is a heterogeneous disorder and Sluggish Cognitive Tempo (SCT) might be a second inattention disorder that might be even affected by different attention pathways. ... -
Nanopore sequencing method for CTG18.1 expansion in TCF4 in late-onset Fuchs endothelial corneal dystrophy and a comparison of the structural features of cornea with first-degree relatives
Vural, Gözde Şahin; Bolat, Hilmi (Springer Science and Business Media Deutschland GmbH, 2023)Background To evaluate the relationship between the number of trinucleotide repeats ( TNR) in late-onset Fuchs corneal endothelial dystrophy (FCED) and to compare the endothelial properties of FCED, first-degree relatives, ... -
A novel MAOA gene variant: Brunner syndrome, a raresyndrome, is associated with a wide range of psychiatricsymptoms
Bolat, Gül Ünsel; Turan, Sıla; Bolat, Hilmi (Wiley, 2024)Brunner syndrome is a rare genetic disorder that associated with mutations in the MAOA gene. It has been linked to a number of psychiatric disorders. We present detailed information on psychiatric evaluation of a case ... -
Phenotypes of autism spectrum disorder and schizoaffective disorder associated with SETD1B gene but without intellectual disability and seizures
Bolat, Gül Ünsel; Bolat, Hilmi (John Wiley and Sons Inc, 2024)The SETD1B gene, located on chromosome 12q24, is one of the chromatinmodifying genes involved in epigenetic regulation of gene transcription. The phenotype of pathogenic variants in the SETD1B gene includes intellectual ... -
Phenotypic and brain imaging findings associated with a 10p proximal deletion including the WAC gene: Case report and literature review
Bolat, Hilmi; Derin, Hatice; Bolat, Gül Ünsel (Lippincott Williams & Wilkins, 2022)Microarray-based techniques are an important testing method in etiological studies of intellectual disability and autism spectrum disorder. Interstitial deletion in the p11–p12 region of chromosome 10 is rare, having ... -
The role of copy number variations and FHIT gene on phenotypic characteristics of cases diagnosed with autism spectrum disorder
Bolat, Gül Ünsel; Bolat, Hilmi (Karger, 2020)Copy number variations (CNVs) have been implied in the etiology of autism spectrum disorder (ASD), and microarray-based techniques are performed as a first-step genetic test. Our aim was to present clinical features and ... -
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 ... -
Yavaş bilişsel tempo ve dikkat eksikliği hiperaktivite bozukluğu: Benzerlikleri ve farklılıkları
Bolat, Gül Ünsel; Bolat, Hilmi; Özgül, Semiha; Süren, Serkan; Yazıcı, Kemal Utku; Bacanlı, Ali; Tahıllıoğlu, Hasan Akın; Parıltay, Erhan; Akın, Haluk; Ercan, Eyüp Sabri (Galenos, 2020)Amaç: Yavaş bilişsel tempo (YBT) hayale dalıp gitme, boş gözlerle bakma, kafası karışık ve şaşkın görünümde olma, yavaş hareket etme ve kolay yorulma gibi bulgularla karakterizedir. En önemli soru, dikkat eksikliği ...
