Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Semra Gursoy"'
Autor:
Semra Gursoy, Esra Ataman, Bahar Toklu Baysal, Berk Özyılmaz, Pınar Gençpınar, Ayşe Semra Hız, Uluç Yiş, Aycan Ünalp, Nihal Olgaç Dündar, Ayfer Ülgenalp, Derya Erçal
Publikováno v:
Annals of Indian Academy of Neurology, Vol 23, Iss 2, Pp 206-210 (2020)
Background and Aims:PCDH19 gene, which encodes protocadherin 19, is associated with epilepsy and intellectual disability, mainly in affected females. The clinical manifestations are heterogeneous and the main features include early onset seizure, gen
Externí odkaz:
https://doaj.org/article/c09e579b34b3452381f5265ddeb77d7b
Autor:
Eser Dogan, Semra Gursoy, Giray Bozkaya, Secil Arslansoyu Camlar, Ozge Aksel Kilicarslan, Alper Soylu, Ayfer Ulgenalp, Salih Kavukcu, Ozlem Giray Bozkaya
Publikováno v:
Indian Journal of Rheumatology, Vol 14, Iss 4, Pp 297-303 (2019)
Introduction: In this study, we aimed to characterize the effect of methylation on clinical diversity and gene expression levels in familial Mediterranean fever. Materials and Methods: Forty children, who were diagnosed with FMF according to the Tel-
Externí odkaz:
https://doaj.org/article/bb2c6cf3cb114abc99e5a133eeadfcc0
Autor:
Duygu Onur Cura, Burcin Iscan, Semra Gursoy, Handan Guleryuz, Tufan Cankaya, Tulay Ozturk, Ozlem Giray Bozkaya
Publikováno v:
Pediatrics and Neonatology, Vol 58, Iss 5, Pp 455-457 (2017)
Externí odkaz:
https://doaj.org/article/f132cd3d44a04832aa6c4e908cf8916b
Autor:
Semra Gursoy, Ozgur Cogulu, Korcan Demir, Behzat Özkan, Filiz Hazan, Özlem Nalbantoğlu, Hüseyin Anıl Korkmaz, Ayca Aykut
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology. 12:358-365
Objective SHOX gene is one of the genetic causes of short stature and the clinical phenotype includes variable degrees of growth impairment such as Langer mesomelic dysplasia, Leri-Weill dyschondrosteosis or idiopathic short stature. In this study, w
Autor:
Ozge, Koprulu, Behzat, Ozkan, Sezer, Acar, Ozlem, Nalbantoglu, Beyhan, Ozkaya Donmez, Gulcin, Arslan, Filiz, Hazan, Semra, Gursoy
Publikováno v:
Sisli Etfal Hastanesi tip bulteni. 56(2)
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive diseases characterized by salt wasting or virilization. 21 hydroxylase deficiency (21-OHD) accounts for 90-95% of all cases of CAH and caused by the genetic defects of CYP21A2. Ot
Publikováno v:
Volume: 35, Issue: 1 87-97
Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi
Dokuz Eylül Üniversitesi Tıp Fakültesi Dergisi
INTRODUCTION: This retrospective study aims to evaluate the clinical manifestations in genetically confirmed classical Rett syndrome (RTT) patients.METHODS: Sixteen patients clinically diagnosed with classical RTT between 2010 and 2020 were evaluated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7551ae976c757e501f0c9a98c2a37c15
https://dergipark.org.tr/tr/pub/deutip/issue/61986/920680
https://dergipark.org.tr/tr/pub/deutip/issue/61986/920680
Autor:
Tarık Kırkgöz, Semra Gürsoy, Sezer Acar, Özlem Nalbantoğlu, Beyhan Özkaya, Hüseyin Anıl Korkmaz, Filiz Hazan, Behzat Özkan
Publikováno v:
Archives of Endocrinology and Metabolism, Vol 68 (2023)
ABSTRACT Objective: Congenital hypopituitarism (CH) is a rare disease characterized by one or more hormone deficiencies of the pituitary gland. To date, many genes have been associated with CH. In this study, we identified the allelic variant spectru
Externí odkaz:
https://doaj.org/article/f2799dd056dd4cfeaa2ad6a847e0e2b8
Autor:
Semra Gürsoy, Filiz Hazan, Cüneyt Zihni, Sezer Acar, Murat Muhtar Yılmazer, Timur Meşe, Behzat Özkan
Publikováno v:
Journal of Pediatric Research, Vol 8, Iss 3, Pp 297-302 (2021)
Aim:Williams-Beuren syndrome, which is characterized by dysmorphic facial features, cardiovascular findings, intellectual disability, endocrine abnormalities and a typical cognitive profile, is caused by a microdeletion in the 7q11.23 region. In this
Externí odkaz:
https://doaj.org/article/56a7e3460ec04a8a8563d29e7c9dd628
Autor:
Tarık Kırkgöz, Behzat Özkan, Filiz Hazan, Sezer Acar, Özlem Nalbantoğlu, Beyhan Özkaya, Melike Ataseven Kulalı, Semra Gürsoy, Shiro Ikegawa, Long Guo
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Dysosteosclerosis (DOS) is a rare sclerosing bone dysplasia characterized by unique osteosclerosis of the long tubular bones and platyspondyly. DOS is inherited in an autosomal recessive manner and is genetically and clinically heterogeneous. To date
Externí odkaz:
https://doaj.org/article/0245d8bf11ee40359cfeddf29d7e2cb4
Publikováno v:
JCRPE, Vol 11, Iss 4, Pp 444-448 (2019)
Idiopathic hypogonadotropic hypogonadism (IHH) is a rare disease caused by defects in the secretion of gonadotropin releasing hormone (GnRH) or the action of GnRH on the pituitary gonadotrophes. KISS1R is one of the genes which, when mutated, cause I
Externí odkaz:
https://doaj.org/article/be543b9116724df3ad213f3bc9919847