Zobrazeno 1 - 10
of 54
pro vyhledávání: '"Semra, Gürsoy"'
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
Autor:
Semra Gürsoy, Filiz Hazan, Ayça Aykut, Özlem Nalbantoğlu, Hüseyin Anıl Korkmaz, Korcan Demir, Behzat Özkan, Özgür Çoğulu
Publikováno v:
JCRPE, Vol 12, Iss 4, Pp 358-365 (2020)
Objective:SHOX gene mutations constitute one of the genetic causes of short stature. The clinical phenotype includes variable degrees of growth impairment, such as Langer mesomelic dysplasia (LMD), Léri-Weill dyschondrosteosis (LWD) or idiopathic sh
Externí odkaz:
https://doaj.org/article/02289d179bc0403abd95c92f1caed883
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
Publikováno v:
Interdisciplinary Medical Journal. 14:51-56
Objective: The aim of the study was to investigate the clinical and molecular genetic characteristics of children with maturity-onset diabetes of the youth-glucokinase (MODY-GCK, MODY type 2). Method: Medical files of 21 patients with suspected MODY-
Publikováno v:
Korean Journal of Pediatrics, Vol 61, Iss 7, Pp 217-220 (2018)
Purpose Type 1 diabetes mellitus (T1DM) is a chronic and immune-mediated disease, which is characterized by the progressive destruction of pancreatic beta cells. T1DM precipitates in genetically susceptible individuals through environmental factors.
Externí odkaz:
https://doaj.org/article/51d1e7af77404917bfb093da1339e540
Autor:
Semra Gürsoy, Derya Erçal
Publikováno v:
Journal of Pediatric Research, Vol 4, Iss 4, Pp 171-175 (2017)
Turner syndrome (TS) is a genetic disorder which is characterized by the complete or partial absence of the X chromosome. The incidence is 1/2500 female live births. The main clinical findings are short stature, primary amenorrhea and infertility, an
Externí odkaz:
https://doaj.org/article/0c1fe12d8e104f1ab983cab077e67e56
Publikováno v:
Psychiatric Genetics. 32:194-198
Coffin-Lowry syndrome (CLS) is a rare X-linked disorder that, usually affects males, presenting with intellectual disability, short stature, growth retardation, short hands, hyperextensible fingers and progressive kyphoscoliosis. Due to skewed X chro
Autor:
Tayfun Cinleti, Ali Gülen, Beria Sönmez, Semra Gürsoy, Özge Kangalli Boyacioğlu, Suna Asilsoy, Ayfer Ulgenalp, Özlem Giray Bozkaya, Ahmet Okay Çağlayan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7672510d1eb1b9a48c410b27aef67775
https://avesis.deu.edu.tr/publication/details/6394efc0-6d18-4302-afff-c1f02f964f75/oai
https://avesis.deu.edu.tr/publication/details/6394efc0-6d18-4302-afff-c1f02f964f75/oai