Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Şule Altıner"'
Autor:
Hasan Fatih Cakmaklı, Hatice Mutlu, Şule Altıner, Fatma Aydın, Talia Ilerı, Elif Ince, Mehmet Ertem
Publikováno v:
Hematology, Transfusion and Cell Therapy, Vol 45, Iss , Pp S23-S24 (2023)
Objective: Ghosal hematodiaphyseal dysplasia (GHDD) is a very rare autosomal recessive disease caused by prostaglandin metabolism disturbances due to biallelic mutations on chromosome 7q33-34 which lead to decrease in thromboxane synthase function. P
Externí odkaz:
https://doaj.org/article/ad8fb4f239984a5691344e40fd2e090e
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
Autor:
Şule Altıner, Nüket Yürür Kutlay
Publikováno v:
Molecular Cytogenetics, Vol 12, Iss 1, Pp 1-10 (2019)
Abstract Background Etiology of developmental delay/intellectual disability is very heterogeneous. In recent years, genetic causes have been defined through the use of chromosomal microarray analysis as a first step genetic test. Results Samples from
Externí odkaz:
https://doaj.org/article/feb04f09508f4b119b9258ada1704e77
Publikováno v:
Cogent Medicine, Vol 4, Iss 1 (2017)
Type I plasminogen deficiency is a rare autosomal recessive systemic disorder. It usually starts in infancy and is clinically characterized by chronic mucosal pseudomembranous lesions which contain largely fibrin due to diminished extracellular plasm
Externí odkaz:
https://doaj.org/article/a430e192531a4d88969cb9d4f430fbb5
Publikováno v:
Journal of Ankara University Faculty of Medicine. 75:368-372
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::564afcc6c76f6c47f01b9699b3326087
https://doi.org/10.4274/atfm.galenos.2022.06978
https://doi.org/10.4274/atfm.galenos.2022.06978
Autor:
Ezgi Gökpınar İli, Elifcan Taşdelen, Ceren Damla Durmaz, Şule Altıner, Timur Tuncalı, Victor Martinez‐Glez, Halil Gürhan Karabulut, Seçil Vural, Serdar Ceylaner, Mustafa Oğuz Acar, Hatice Ilgın Ruhi
Publikováno v:
American Journal of Medical Genetics Part A. 188:1792-1800
Somatic and germline PI3K-AKT-mTOR pathway pathogenic variants are involved in several segmental overgrowth phenotypes such as the PIK3CA-related overgrowth spectrum (PROS), Proteus syndrome, and PTEN hamartoma tumor syndrome. In this study, we descr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bb9b54cafb9f1567c4af86bd2e20368
https://doi.org/10.1002/ajmg.a.62709
https://doi.org/10.1002/ajmg.a.62709
Publikováno v:
Cytogenetic and Genome Research. 162:297-305
Complex chromosomal rearrangements (CCRs) have been described as alterations between two or more chromosomes with at least 3 breakpoints. CCRs can cause copy number variations (CNVs) resulting in developmental disorders, multiple congenital anomalies
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3046120556cc643481d49af043336e9d
https://doi.org/10.1159/000527318
https://doi.org/10.1159/000527318
Publikováno v:
Journal of Ankara University Faculty of Medicine. 74:365-369
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4e4e598fefddd10f6e41d4e74c80f135
https://doi.org/10.4274/atfm.galenos.2021.66376
https://doi.org/10.4274/atfm.galenos.2021.66376
Autor:
Şule Altıner, Ceren Damla Durmaz
Publikováno v:
American Journal of Medical Genetics Part A. 185:2267-2270
3MC syndrome is a rare condition manifesting with typical facial appearance, postnatal growth deficiency, skeletal manifestations, and genitourinary tract anomalies. 3MC is caused by biallelic pathogenic variants in MASP1, COLEC11, or COLEC10. Here,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7cb04208b097fda4505f60fa32e67e6
https://doi.org/10.1002/ajmg.a.62191
https://doi.org/10.1002/ajmg.a.62191
Autor:
Alper Han Cebi, Şule Altıner
Publikováno v:
Molecular Syndromology. 11:197-206
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=doi_________::d1fc8ecaa75f43a373ecea1147bef076
https://doi.org/10.1159/000509645
https://doi.org/10.1159/000509645