A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.

Autor: Dinçer T; Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Gümüş E; Department of Medical Genetics, Faculty of Medicine, Muğla Sıtkı Koçman University, Muğla, Turkey., Toraman B; Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Er İ; Department of Medical Biology, Institute of Health Science, Karadeniz Technical University, Trabzon, Turkey., Yildiz G; Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey., Yüksel Z; Department of Human Genetics, Bioscientia GmbH, Ingelheim, Germany., Kalay E; Department of Medical Biology, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jun; Vol. 185 (6), pp. 1691-1699. Date of Electronic Publication: 2021 Mar 13.

Analysis of centrosome and DNA damage response in PLK4 associated Seckel syndrome

Autor: Dinçer T, Yorgancıoğlu-Budak G, Ölmez A, Er İ, Dodurga Y, Özdemir ÖM, Toraman B, Yıldırım A, Sabir N, Akarsu NA, Semerci CN, Kalay E

Microcephalic primordial dwarfism (MPD) is a group of autosomal recessive inherited single-gene disorders with intrauterine and postnatal global growth failure. Seckel syndrome is the most common form of the MPD. Ten genes are known with Seckel syndr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3566::b011224b180a5134be50ae4c6cdea8fb

Finding underlying genetic mechanisms of two patients with autism spectrum disorder carrying familial apparently balanced chromosomal translocations.

Autor: Toraman B; Faculty of Medicine Department of Medical Biology, Karadeniz Technical University, Trabzon, Turkey., Bilginer SÇ; Faculty of Medicine Child and Adolescent Psychiatry Department, Karadeniz Technical University, Trabzon, Turkey., Hesapçıoğlu ST; Child and Adolescent Psychiatry Department, Yildirim Beyazit University Faculty of Medicine, Ankara, Turkey., Göker Z; Ministry of Health Ankara City Hospital, Child-Adolescent and Mental Health, Cankaya, Ankara, Turkey., Soykam HO; Department of Biostatistics and Bioinformatics, Acibadem Mehmet Ali Aydinlar University, Institute of Health Sciences, İstanbul, Turkey., Ergüner B; Sabanci University Faculty of Engineering and Natural Sciences, Molecular Biology, Genetics and Bio engineering, Istanbul, Turkey., Dinçer T; Faculty of Medicine Department of Medical Biology, Karadeniz Technical University, Trabzon, Turkey., Yıldız G; Faculty of Medicine Department of Medical Biology, Karadeniz Technical University, Trabzon, Turkey., Ünsal S; Graduate School of Health Science, Biostatistics and Medical Informatics Department, PhD Candidate, Karadeniz Technical University, Trabzon, Turkey., Kasap BK; Graduate School of Health Science, Medical Biology Department, PhD Candidate, Karadeniz Technical University, Trabzon, Turkey., Kandil S; Faculty of Medicine Child and Adolescent Psychiatry Department, Karadeniz Technical University, Trabzon, Turkey., Kalay E; Faculty of Medicine Department of Medical Biology, Karadeniz Technical University, Trabzon, Turkey.

Publikováno v: The journal of gene medicine [J Gene Med] 2021 Apr; Vol. 23 (4), pp. e3322. Date of Electronic Publication: 2021 Mar 11.

[Investigation of Plasmid Mediated mcr Colistin Resistance Gene in Clinical Enterobacterales Isolates].

Autor: Özkaya E; Karadeniz Technical University Faculty of Medicine, Department of Medical Microbiology, Trabzon, Turkey., Buruk CK; Karadeniz Technical University Faculty of Medicine, Department of Medical Microbiology, Trabzon, Turkey., Tosun İ; Karadeniz Technical University Faculty of Medicine, Department of Medical Microbiology, Trabzon, Turkey., Toraman B; Karadeniz Technical University Faculty of Medicine, Department of Medical Biology, Trabzon, Turkey., Kaklıkkaya N; Karadeniz Technical University Faculty of Medicine, Department of Medical Microbiology, Trabzon, Turkey., Aydın F; Karadeniz Technical University Faculty of Medicine, Department of Medical Microbiology, Trabzon, Turkey.

Publikováno v: Mikrobiyoloji bulteni [Mikrobiyol Bul] 2020 Apr; Vol. 54 (2), pp. 191-202.

autosomal recessive anophthalmia/microphthalmia

Autor: Semerci, CN, Kalay, E, Yildirim, C, Dincer, T, Olmez, A, Toraman, B, Kocyigit, A, Bulgu, Y, Okur, V, Satiroglu-Tufan, L, Akarsu, NA

Aim This study aimed to identify the underlying genetic defect responsible for anophthalmia/microphthalmia. Methods In total, two Turkish families with a total of nine affected individuals were included in the study. Affymetrix 250 K single nucleotid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1aff6441feb6fbb06c94b510208327d8
http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/14517