Case Report for Two Siblings Carrying Neurofibromatosis Type 1 with a Rare NF1: c.5392C>T Mutation

Autor: Sayın Kocakap DB, Gündüz Ö, Özer L, Durak M

Publikováno v: Balkan Journal of Medical Genetics, Vol 24, Iss 2, Pp 99-102 (2022)

Neurofibromatosis type 1 (NF1) is a neurocutaneous syndrome caused by mutations on the NF1 gene, which is located at chromosome 17q11.2. Although an autosomal dominant inheritance pattern is well-established, about half of new cases are the result of

Externí odkaz: https://doaj.org/article/ef506da19f8b4495a3c4585d8958c60b

Adverse effect of VEGFR-2 (rs1870377) polymorphism on the clinical course of COVID-19 in females and males in an age-dependent manner.

Autor: Sayın Kocakap DB; Department of Medical Genetics, Faculty of Medicine, Kırıkkale University, Kırıkkale, Türkiye., Kaygusuz S; Department of Infectious Diseases and Clinical Microbiology, Faculty of Medicine, Kırıkkale University, Kırıkkale, Türkiye., Aksoy E; Department of Virology, Faculty of Veterinary Medicine, Kırıkkale University, Kırıkkale, Türkiye., Şahin Ö; Department of Infectious Diseases and Clinical Microbiology, Faculty of Medicine, Kırıkkale University, Kırıkkale, Türkiye., Baççıoğlu A; Department of Allergy and Immunology, Faculty of Medicine, Kırıkkale University, Kırıkkale, Türkiye; Department of Pulmonary Diseases, Faculty of Medicine, Kırıkkale University, Kırıkkale, Türkiye., Ekici A; Department of Pulmonary Diseases, Faculty of Medicine, Kırıkkale University, Kırıkkale, Türkiye., Kalpaklıoğlu AF; Department of Allergy and Immunology, Faculty of Medicine, Kırıkkale University, Kırıkkale, Türkiye; Department of Pulmonary Diseases, Faculty of Medicine, Kırıkkale University, Kırıkkale, Türkiye., Ekici MS; Department of Pulmonary Diseases, Faculty of Medicine, Kırıkkale University, Kırıkkale, Türkiye., Gül S; Department of Infectious Diseases and Clinical Microbiology, Faculty of Medicine, Kırıkkale University, Kırıkkale, Türkiye., Kaçmaz B; Department of Infectious Diseases and Clinical Microbiology, Faculty of Medicine, Kırıkkale University, Kırıkkale, Türkiye., Ayaşlıoğlu Açıkgöz E; Department of Infectious Diseases and Clinical Microbiology, Faculty of Medicine, Kırıkkale University, Kırıkkale, Türkiye., Alyılmaz Bekmez S; Department of Medical Genetics, Faculty of Medicine, Kırıkkale University, Kırıkkale, Türkiye., Rouse BT; College of Veterinary Medicine, University of Tennessee, Knoxville, TN, 37996, USA., Azkur AK; Department of Virology, Faculty of Veterinary Medicine, Kırıkkale University, Kırıkkale, Türkiye. Electronic address: kursatazkur@kku.edu.tr.

Publikováno v: Microbes and infection [Microbes Infect] 2023 Nov-Dec; Vol. 25 (8), pp. 105188. Date of Electronic Publication: 2023 Jul 25.

A Case Report of a Prenatally Missed Mowat-Wilson Syndrome With Isolated Corpus Callosum Agenesis.

Autor: Şenbil N; Department of pediatric neurology, Kırıkkale University Faculty of Medicine, Kırıkkale, Turkey., Arslan Z; Department of pediatrics, Kırıkkale Unıversity Faculty of Medicine, Kırıkkale, Turkey., Sayın Kocakap DB; Department of Genetics, Kırıkkale University Faculty of Medicine, Kırıkkale, Turkey., Bilgili Y; Department of Radiology, Kırıkkale University Faculty of Medicine, Kırıkkale, Turkey.

Publikováno v: Child neurology open [Child Neurol Open] 2021 Apr 23; Vol. 8, pp. 2329048X211006511. Date of Electronic Publication: 2021 Apr 23 (Print Publication: 2021).

The frequency of Familial Mediterranean fever gene mutations and genotypes at Kirikkale and comparison with the mean of regional MEFV mutation frequency of Turkey.

Autor: Sayın Kocakap DB; Department of Medical Genetics, School of Medicine, Kırıkkale University, 71450, Kirikkale, Turkey, dsayin@yahoo.com., Günel-Özcan A, Çabuk F, Ensari C

Publikováno v: Molecular biology reports [Mol Biol Rep] 2014 Mar; Vol. 41 (3), pp. 1419-26. Date of Electronic Publication: 2014 Jan 01.