Zobrazeno 1 - 10
of 90
pro vyhledávání: '"Selma Demir"'
Autor:
Sinem Yalcintepe, Yasemin Karal, Selma Demir, Emine Ikbal Atli, Engin Atli, Damla Eker, Cisem Mail, Drenushe Zhuri, Hazal Sezginer Guler, Hakan Gurkan
Publikováno v:
Global Medical Genetics, Vol 10, Iss 02, Pp 117-122 (2023)
This study aimed to define the copy numbers of SMN1 and SMN2 genes and the diagnosis rate and carrier frequency of spinal muscular atrophy (SMA) in the Thrace region of Turkey. In this study, the frequency of deletions in exons 7 and 8 in the SMN1 ge
Externí odkaz:
https://doaj.org/article/cf2329f4743544118b8305dac213da48
Autor:
Engin Atlı, Hakan Gürkan, Babürhan Güldiken, Damla Eker, Sinem Yalçıntepe, Selma Demir, Emine İkbal Atlı
Publikováno v:
Balkan Medical Journal, Vol 40, Iss 1, Pp 13-20 (2023)
Background: Idiopathic generalized epilepsy is the most common group of epilepsy disorders in children and adolescents. Various types of genetic abnormality were identified among the hereditary factors that explain epilepsy. Aims: To determine the v
Externí odkaz:
https://doaj.org/article/570a50187473480fa4cc3d2bb1256ae9
Autor:
Drenushe Zhuri, Hakan Gurkan, Damla Eker, Yasemin Karal, Sinem Yalcintepe, Engin Atli, Selma Demir, Emine Ikbal Atli
Publikováno v:
Global Medical Genetics, Vol 09, Iss 03, Pp 226-236 (2022)
Introduction Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by the degeneration of motor neurons, muscle weakness, and atrophy that leads to infant's death. The duplication of exon 7/8 in the SMN2 gene reduces t
Externí odkaz:
https://doaj.org/article/eaeab119278e4f46a465a839fb56277d
Autor:
Damla Eker, Hakan Gurkan, Yasemin Karal, Sinem Yalcintepe, Selma Demir, Engin Atli, Serap T. Karasalihoglu
Publikováno v:
Global Medical Genetics, Vol 09, Iss 03, Pp 200-207 (2022)
Background Hypotonia occurs as a result of neurological dysfunction in the brain, brainstem, spinal cord, motor neurons, anterior horn cells, peripheral nerves, and muscles. Although the genotype–phenotype correlation can be established in 15 to 30
Externí odkaz:
https://doaj.org/article/95690e8c23a54109b4d7a2c7d992fdb8
Autor:
Emine Ikbal Atli, Engin Atli, Cihan Inan, Gülizar Fusun Varol, Cisem Mail, Esra Altan Erbilen, Sinem Yalcintepe, Selma Demir, Hakan Gurkan
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 3, Pp 504-509 (2022)
Objective: The 18q terminal deletion with inverted duplication is an extremely rare abnormality, with only three confirmed cases in Europe to date. Here, we report, for the first time, a case of de novo 18q inv-dup-del in a Turkish pregnant woman. Ca
Externí odkaz:
https://doaj.org/article/b84f7b60f23a418c9825d3a874cd3ba2
Autor:
Emine Ikbal Atli, Engin Atli, Sinem Yalcintepe, Selma Demir, Cisem Mail, Damla Eker, Yasemin Ozen, Hakan Gurkan
Publikováno v:
Global Medical Genetics, Vol 09, Iss 01, Pp 042-050 (2022)
Objective A significant number of genetic variations have been identified in chromosome 22, using molecular genetic techniques. Various genomic disorders on chromosome 22, including cat's eye syndrome caused by extra copies of the proximal region of
Externí odkaz:
https://doaj.org/article/2234d8b3151a4c60a88032b94d8a5b4a
Autor:
Emine Ikbal Atli, Engin Atli, Sinem Yalcintepe, Selma Demir, Rasime Kalkan, Cisem Akurut, Yasemin Ozen, Hakan Gurkan
Publikováno v:
Global Medical Genetics, Vol 09, Iss 01, Pp 029-033 (2022)
The prenatal diagnosis of congenital heart disease (CHD) is important because of mortality risk. The onset of CHD varies, and depending on the malformation type, the risk of aneuploidy is changed. To identify possible genetic alterations in CHD, G-ba
Externí odkaz:
https://doaj.org/article/394510a10a014c37a951580b9a283724
Autor:
Selma Demir, Sinem Yalçıntepe, Engin Atlı, Yelda Yalçın, Emine İkbal Atlı, Damla Eker, Yasemin Karal, Hakan Gürkan
Publikováno v:
Balkan Medical Journal, Vol 38, Iss 6, Pp 341-347 (2021)
Externí odkaz:
https://doaj.org/article/0720d5a2a0974a608c095726601377e5
Autor:
Sinem Yalçıntepe, Fatma Özgüç Çömlek, Hakan Gürkan, Selma Demir, Emine İkbal Atlı, Engin Atlı, Damla Eker, Filiz Tütüncüler Kökenli
Publikováno v:
JCRPE, Vol 13, Iss 3, Pp 320-331 (2021)
Objective:The aim of this study was to investigate the molecular basis of maturity-onset diabetes of the young (MODY) by targeted-gene sequencing of 20 genes related to monogenic diabetes, estimate the frequency and describe the clinical characterist
Externí odkaz:
https://doaj.org/article/bbb9a2faefce4ec8b223185fb22be6fd
Publikováno v:
Global Medical Genetics, Vol 07, Iss 02, Pp 068-071 (2020)
Marfan syndrome is an autosomal dominant disease affecting connective tissue involving the ocular, skeletal systems with a prevalence of 1/5,000 to 1/10,000 cases. Especially cardiovascular system disorders (aortic root dilatation and enlargement of
Externí odkaz:
https://doaj.org/article/0881699e664444788f1d4a185c912cd8