Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Doga Turkkahraman"'
Autor:
Ayşehan Akıncı, Doğa Türkkahraman, İbrahim Tekedereli, Leyla Özer, Bahri Evren, İbrahim Şahin, Tarkan Kalkan, Yusuf Çürek, Emine Çamtosun, Esra Döğer, Aysun Bideci, Ayla Güven, Erdal Eren, Özlem Sangün, Atilla Çayır, Pelin Bilir, Ayça Törel Ergür, Oya Ercan
Publikováno v:
JCRPE, Vol 11, Iss 4, Pp 341-349 (2019)
Objective:Non syndromic monogenic obesity is a rare cause of early onset severe obesity in the childhood period. This form may not be distinguishable from other forms of severe obesity without genetic analysis, particularly if patients do not exibit
Externí odkaz:
https://doaj.org/article/becf95a4d1e646db81c94a832df61196
Publikováno v:
Case Reports in Endocrinology, Vol 2018 (2018)
Pituitary-specific paired-like homeodomain transcription factor, PROP1, is associated with multiple pituitary hormone deficiency. Alteration of the gene encoding the PROP1 may affect somatotropes, thyrotropes, and lactotropes, as well as gonadotropes
Externí odkaz:
https://doaj.org/article/071c71ebcc664c51af7d4de85dace58a
Publikováno v:
Molecular Biology Reports. 49:1883-1893
Background Obesity is a complex genetic-based pediatric disorder which triggers life-threatening conditions. Therefore, the understanding the molecular mechanisms of obesity has been a significant approach in medicine. Computational methods allow rap
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f94e3defd17724b61b215f3e6e4dea98
https://doi.org/10.1007/s11033-021-06999-2
https://doi.org/10.1007/s11033-021-06999-2
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology. 13:353-357
Loss-of-function mutations in the immunoglobulin superfamily, member 1 (IGSF1) gene cause X-linked central hypothyroidism, and therefore its mutation affects mainly males. Central hypothyroidism in males is the hallmark of the disorder, however some
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e0965a43060556db9caf38f2da11d62f
https://doi.org/10.4274/jcrpe.galenos.2020.2020.0149
https://doi.org/10.4274/jcrpe.galenos.2020.2020.0149
Publikováno v:
JCRPE, Vol 16, Iss 2, Pp 146-150 (2024)
INTRODUCTION: Prader-Willi syndrome (PWS) and Bardet-Biedl syndrome (BBS) are causes of pediatric syndromic obesity. We aimed to investigate a possible role for ghrelin and glucagon-like peptide-1 (GLP-1) in the pathophysiology of PWS and BBS. METHO
Externí odkaz:
https://doaj.org/article/8fe346ed1fc746e6af0c8548fa694a98
Autor:
Doga Turkkahraman, Tarkan Kalkan, Pelin Bilir, Esra Döğer, Leyla Özer, Emine Çamtosun, Bahri Evren, Ayla Güven, Atilla Cayir, Özlem Sangün, Ayşehan Akıncı, Yusuf Çürek, Oya Ercan, Ayça Törel Ergür, İbrahim Tekedereli, Aysun Bideci, Ibrahim Sahin, Erdal Eren
Publikováno v:
JCRPE, Vol 11, Iss 4, Pp 341-349 (2019)
Journal of Clinical Research in Pediatric Endocrinology
Journal of Clinical Research in Pediatric Endocrinology
Eren, Erdal/0000-0002-1684-1053; Ercan, Oya/0000-0001-7397-2837; camtosun, emine/0000-0002-8144-4409; Turkkahraman, Doga/0000-0002-7472-5712 WOS:000498876500002 PubMed ID: 30991789 Objective: Non syndromic monogenic obesity is a rare cause of early o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::043e25de3612584245b0e03ddd3406c1
https://avesis.gazi.edu.tr/publication/details/3c4fb91c-5f67-4112-a7b9-7ec6b83137a3/oai
https://avesis.gazi.edu.tr/publication/details/3c4fb91c-5f67-4112-a7b9-7ec6b83137a3/oai
Autor:
Yusuf Çürek, Iffet Bircan, Sema Akçurin, Gamze Çelmeli, Jayne A L Houghton, Doga Turkkahraman
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology
Wolfram syndrome (WS) is an autosomal recessive disorder caused by mutations in WFS1 gene. The clinical features include diabetes insipidus, diabetes mellitus (DM), optic atrophy, deafness, and other variable clinical manifestations. In this paper, w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7617fc67e0e706cea2a89eeb324e2507
http://europepmc.org/articles/PMC5363171
http://europepmc.org/articles/PMC5363171
Publikováno v:
Journal of Clinical Research in Pediatric Endocrinology
Objective: The CYP19A1 gene product aromatase is responsible for estrogen synthesis and androgen/estrogen equilibrium in many tissues, particularly in the placenta and gonads. Aromatase deficiency can cause various clinical phenotypes resulting from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc4764b7f281c6a37300bbb2e51696f3
https://doi.org/10.4274/jcrpe.2761
https://doi.org/10.4274/jcrpe.2761
Autor:
Natalie Frede, Bodo Grimbacher, Nefise Oztoprak, Derya Seyman, Doga Turkkahraman, Sadi Köksoy, Esvet Mutlu, Fatih Celmeli
Publikováno v:
Pediatric Infectious Disease Journal. 35:428-431
Caspase-associated recruitment domain-9 (CARD9) deficiency is an autosomal-recessive primary immunodeficiency with genetic defects in Th17 immunity marked by susceptibility to recurrent and invasive Candida infections. We present a case of relapsing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a65413bf38c39359855e9a1aff4abb3b
https://doi.org/10.1097/inf.0000000000001028
https://doi.org/10.1097/inf.0000000000001028