Zobrazeno 1 - 10
of 82
pro vyhledávání: '"Filiz Hazan"'
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:
Central European Journal of Immunology, Vol 45, Iss 1, Pp 69-72 (2020)
Externí odkaz:
https://doaj.org/article/c08bb26056cb4ebbb7518f32181f8530
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
Autor:
Gulden Diniz, Hulya Tosun Yildirim, Sarenur Gokben, Gul Serdaroglu, Filiz Hazan, Kanay Yararbas, Ajlan Tukun
Publikováno v:
Case Reports in Genetics, Vol 2014 (2014)
Limb-girdle muscular dystrophy type 2D (LGMD-2D) is caused by autosomal recessive defects in the alpha-sarcoglycan gene located on chromosome 17q21. In this study, we present a child with alpha-sarcoglycanopathy and describe a novel deletion in the a
Externí odkaz:
https://doaj.org/article/618f2184db734d698034b3e6335a6d39
Autor:
Stefania Zampieri, Silvia Cattarossi, Ana Maria Oller Ramirez, Camillo Rosano, Charles Marques Lourenco, Nadia Passon, Isabella Moroni, Graziella Uziel, Antonella Pettinari, Franco Stanzial, Raquel Dodelson de Kremer, Nydia Beatriz Azar, Filiz Hazan, Mirella Filocamo, Bruno Bembi, Andrea Dardis
Publikováno v:
PLoS ONE, Vol 7, Iss 7, p e41516 (2012)
Sandhoff disease (SD) is a lysosomal disorder caused by mutations in the HEXB gene. To date, 43 mutations of HEXB have been described, including 3 large deletions. Here, we have characterized 14 unrelated SD patients and developed a Multiplex Ligatio
Externí odkaz:
https://doaj.org/article/dd4476baf4464294933a6b2da0c8bb6e
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-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bb7054da6f98a0bdfc2786fc5ceb3308
https://doi.org/10.17944/interdiscip.1285735
https://doi.org/10.17944/interdiscip.1285735
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c7e3b264bb02507008c7caa711d03ac
https://doi.org/10.1097/ypg.0000000000000323
https://doi.org/10.1097/ypg.0000000000000323