Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Cisem Mail"'
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:
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 Atli, Rasime Kalkan, Cisem Mail, Damla Eker, Ufuk Demirci, Selma Demir, Sinem Yalcintepe, Hakki Onur Kirkizlar, Engin Atli, Hakan Gurkan, Ahmet Muzaffer Demir
Publikováno v:
Mediterranean Journal of Hematology and Infectious Diseases, Vol 13, Iss 1 (2021)
Advanced diagnostic methods give an advantage for the identification of the abnormalities in myeloid malignancies. Various researchers have shown the potential importance of genetic tests both before the onset of the disease and during the remission.
Externí odkaz:
https://doaj.org/article/dc5b61e91ded4500b181f645d7d41d99
Publikováno v:
Mol Syndromol
Chromosome 16 is one of the gene-rich chromosomes; however, approximately 10% of the chromosome 16 sequence is composed of segmental copies, which renders this chromosome instable and predisposes it to rearrangements via frequent nonallelic homologou
Autor:
Cisem Mail, Yasemin Ozen, Selma Demir, Emine Ikbal Atli, Engin Atli, Sinem Yalcintepe, Damla Eker, 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
Autor:
Sinem Yalcintepe, Drenushe Zhuri, Hazal Sezginer Guler, Engin Atli, Selma Demir, Emine Ikbal Atli, Cisem Mail, Hakan Gurkan
Publikováno v:
Mol Syndromol
Jacobsen syndrome is a rare congenital disorder that is caused by the deletion of several genes in chromosome 11. A 10-year-old female with congenital heart disease, dextrocardia, and coarse facial appearance was examined in our medical genetics clin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bc0e3920859252b36df004de3d64ffd
https://europepmc.org/articles/PMC9149402/
https://europepmc.org/articles/PMC9149402/
Autor:
Sinem Yalcintepe, Engin Atli, Emine Ikbal Atli, Selma Demir, Yasemin Ozen, Cisem Mail, Hakan Gurkan
Publikováno v:
Human Gene. 33:201034
Publikováno v:
J Pediatr Genet
Duplications of 6q and deletions of 6p have been reported in more than 30 cases of live born infants and given rise to widespread abnormalities recognizable as a specific clinical syndrome. Different phenotypes have been described with variable clini
Autor:
Emine Ikbal Atli, Necdet Sut, Drenushe Zhuri, Hakan Gurkan, Işık Görker, Cisem Mail, Sinem Yalcintepe, Damla Eker, Hilmi Tozkir, Yasemiin Ozen, Hazal Sezginer Guler, Selma Demir, Engin Atli
Publikováno v:
Archives of Neuropsychiatry.
Introduction Autism spectrum disorder is a genetically and phenotypically heterogeneous group. Genetic studies carried out to date have suggested that both common and rare genetic variants play a role in the etiology of this disorder. In our study, w