Zobrazeno 1 - 10 of 15 pro vyhledávání: '"Alper Han Çebi̇"'
1
Akademický článek
Comparison of Clinical and Genetic Characteristics of Familial Mediterranean Fever Patients Among Adult Age Groups
Autor: Sami Fidan, Sahile Seferli, Serdar Durak, Ceren Konca Seferoğlu, İlyas Ercan Okatan, Alper Han Çebi, Murat Erkut, Arif Mansur Coşar
Publikováno v: The Turkish Journal of Gastroenterology, Vol 35, Iss 8, Pp 618-624 (2024)
Background/Aims: Familial mediterranean fever (FMF) is a genetic autoinflammatory disease typically diagnosed in childhood. In this study, we aimed to investigate the demographic, clinical, and genetic characteristics of patients aged 18 years and ol
Externí odkaz: https://doaj.org/article/252d19fabd7d4c89823fdcc0dda027f2
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2
Akademický článek
Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome
Autor: Kerem Teralı, Ayberk Türkyılmaz, Safiye Güneş Sağer, Alper Han Çebi
Publikováno v: Clinical and Translational Science, Vol 17, Iss 1, Pp n/a-n/a (2024)
Abstract Dravet syndrome and genetic epilepsy with febrile seizures plus (GEFS+) are both epilepsy syndromes that can be attributed to deleterious mutations occurring in SCN1A, the gene encoding the pore‐forming α‐subunit of the NaV1.1 voltage
Externí odkaz: https://doaj.org/article/355e84b99be54b39bdde54000dcabbfd
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3
Akademický článek
BCR-ABL negatif kronik myeloproliferatif hastalıkların tanı anındaki genetik analizleri ve bunların klinik etkileri
Autor: Ayşe Uysal, Şule Altıner, Said Çeli̇k, Serhat Uysal, Alper Han Çebi̇
Publikováno v: Cukurova Medical Journal, Vol 45, Iss 3, Pp 933-939 (2020)
Amaç: Bu çalışmanın amacı, bcr-abl negatif kronik miyeloproliferatif hastalık tanısı alan hastaların tanı anında JAK2 V617F, kalretikulin (CALR tip-1 ve tip-2) ve MPL-W515K / L mutasyonların sıklığını ve bu mutasyonların klinik ön
Externí odkaz: https://doaj.org/article/aae5d055c8fa4f4494cced8f21de591f
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5
De novo Pure Partial Trisomy 6p Associated with Facial Dysmorphism, Developmental Delay, Brain Anomalies, and Primary Congenital Hypothyroidism
Autor: Ayberk Türkyılmaz, Emine Ayça Cimbek, Alper Han Çebi, Elif Acar Arslan, Gülay Karagüzel
Publikováno v: Molecular Syndromology. 14:35-43
Introduction: Partial trisomy 6p is a rare chromosomal anomaly, characterized by low birth weight, developmental delay, craniofacial abnormalities, feeding difficulties, congenital heart defects, and renal abnormalities. Some of the partial trisomy 6
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ca565a6492bf2cca47add9248353e8ce
https://doi.org/10.1159/000525393
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6
Genetic Landscape of SCN1A Variants in a Turkish Cohort with GEFS+ Spectrum and Dravet Syndrome
Autor: Ayberk Türkyılmaz, Emine Tekin, Oğuzhan Yaralı, Alper Han Çebi
Publikováno v: Molecular Syndromology. :1-12
Introduction: The α subunit of voltage-gated sodium channels in mammals is encoded by 9 different genes, and variations in the SCN1A, SCN2A, SCN3A, and SCN8A genes highly expressed in the CNS have been associated with epilepsy phenotypes. This study
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::098f172649a8273cc4f8a7bf26639d21
https://doi.org/10.1159/000521330
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7
Familial Hemophagocytic Lymphohistiocytosis With Heterozygous STX11 and Homozygous UNC13D Mutations Diagnosed in the Neonatal Period
Autor: Aysenur, Bahadir, Şebnem, Kader, Alper Han, Çebi, Erol, Erduran, Mehmet, Mutlu, Yakup, Aslan
Publikováno v: Journal of Pediatric Hematology/Oncology. 44:e866-e868
Patients with primary hemophagocytic lymphohistiocytosis may present with different mutations and phenotypic findings. It is usually presented as case reports because of its rare occurrence. Here, we discuss a case diagnosed with familial hemophagocy
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79e83fca2c649eff40caaa336e760727
https://doi.org/10.1097/mph.0000000000002449
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8
Genetic Landscape of
Autor: Ayberk, Türkyılmaz, Emine, Tekin, Oğuzhan, Yaralı, Alper Han, Çebi
Publikováno v: Mol Syndromol
INTRODUCTION: The α subunit of voltage-gated sodium channels in mammals is encoded by 9 different genes, and variations in the SCN1A, SCN2A, SCN3A, and SCN8A genes highly expressed in the CNS have been associated with epilepsy phenotypes. This study
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a3ea02d173c8c6e924dfe95855f5c744
https://pubmed.ncbi.nlm.nih.gov/36158059
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9
Application of Chromosome Microarray Analysis in the Investigation of Developmental Disabilities and Congenital Anomalies: Single Center Experience and Review of
Autor: Alper Han, Çebi, Şule, Altıner
Publikováno v: Mol Syndromol
Chromosomal microarray analysis (CMA) is a first step test used for the diagnosis of patients with developmental delay, intellectual disability, autistic spectrum disorder, and multiple congenital anomalies. Its widespread usage has allowed genome-wi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b17fb54e4574635253db0a2d136e2713
https://pubmed.ncbi.nlm.nih.gov/33224013
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10
Akademický článek
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset
Autor: Gülay Karagüzel, Recep Polat, Mehtap H. Abul, Alper Han Cebi, Fazıl Orhan
Publikováno v: JCRPE, Vol 14, Iss 3, Pp 361-365 (2022)
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an early onset systemic autoimmune genetic disorder caused by mutation of the forkhead box protein 3 (FOXP3) gene. Enteropathy, endocrinopathy and skin manifestations
Externí odkaz: https://doaj.org/article/afb5bc8aca7141629c8bbb1d449c4f84
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