Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Oya Uyguner"'
Autor:
Neşe Akcan, Oya Uyguner, Firdevs Baş, Umut Altunoğlu, Güven Toksoy, Birsen Karaman, Şahin Avcı, Zehra Yavaş Abalı, Şükran Poyrazoğlu, Agharza Aghayev, Volkan Karaman, Rüveyde Bundak, Seher Başaran, Feyza Darendeliler
Publikováno v:
JCRPE, Vol 14, Iss 2, Pp 153-171 (2022)
INTRODUCTION: Objective: Androgen insensivity syndrome (AIS) and 5α-reductase deficiency (5α-RD) present with indistinguishable phenotypes among the 46,XY disorders of sexual development (DSD) that usually necessitate molecular analyses for the de
Externí odkaz:
https://doaj.org/article/860a70dc14c9409aacfb6b3de305c261
Autor:
Mustafa Bilici, Serap Karaman, Aysegul Unuvar, Deniz Tugcu, Gülsah Tanyildiz, Ayca Dilruba Aslanger, Oya Uyguner, Rumeysa Tuna Deveci, Sifa Sahin, Zeynep Karakas
Publikováno v:
Hematology, Transfusion and Cell Therapy, Vol 43, Iss , Pp S62-S63 (2021)
Objective: Polycythemia is a rare condition in which an increase in erythrocyte mass is observed. It can be primary or secondary. Primary polycythemia occurs as a result of congenital or acquired mutations that regulate erythroid development. Althoug
Externí odkaz:
https://doaj.org/article/09a147323fc14bf7894b83150b43b840
Autor:
Fahrettin Uysal, Burcu Turkgenc, Guven Toksoy, Ozlem M. Bostan, Elif Evke, Oya Uyguner, Cengiz Yakicier, Hulya Kayserili, Ergun Cil, Sehime G. Temel
Publikováno v:
BMC Medical Genetics, Vol 18, Iss 1, Pp 1-8 (2017)
Abstract Background Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heter
Externí odkaz:
https://doaj.org/article/547b936f1a3f48028b40b8469462b7d9
Autor:
Yavas Abali, Zehra, Gokpinar Ili, Ezgi, Bas, Firdevs, Ulak Ozkan, Melis, Gulec, Çagrı, Toksoy, Guven, Ozturk, Ayşe Pinar, Karakilic Ozturan, Esin, Aslanger, Ayça, Caliskan, Mine, Yesil, Gozde, Poyrazoglu, Sukran, Darendeliler, Feyza, Oya Uyguner, Zehra
Publikováno v:
Hormone Research in Paediatrics; 2024, Vol. 97 Issue 2, p157-164, 8p
Autor:
G. Tutku Turgut, Ibrahim Halil Kalelioglu, Volkan Karaman, Tugba Sarac Sivrikoz, Birsen Karaman, Zehra Oya Uyguner, Tugba Kalayci
Publikováno v:
Molecular Syndromology. 14:152-157
Introduction: GDF5-BMPR1B signaling pathway-associated chondrodysplasias are a genetically heterogeneous group of conditions with significant phenotypic and genotypic overlap, consisting of Hunter-Thompson-type acromesomelic dysplasia, Grebe dysplasi
Autor:
Birsen Karaman, Hülya Kayserili, Asadollah Ghanbari, Zehra Oya Uyguner, Güven Toksoy, Umut Altunoglu, Seher Basaran
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-7 (2018)
Abstract Background Pallister Killian syndrome (PKS, OMIM 601803) is a rare genetic disorder with a distinct phenotype caused by tissue- limited mosaicism tetrasomy of the short arm of chromosome 12, which usually cytogenetically presents as an extra
Externí odkaz:
https://doaj.org/article/2b6a336a27d44a7bbd162771492870e6
Publikováno v:
Wednesday, April 26.
Autor:
Esin Karakilic‐Ozturan, Umut Altunoglu, Ayse Pinar Ozturk, Asli Derya Kardelen Al, Zehra Yavas Abali, Sahin Avci, Bernd Wollnik, Sukran Poyrazoglu, Firdevs Bas, Zehra Oya Uyguner, Hülya Kayserili, Feyza Darendeliler
Publikováno v:
American Journal of Medical Genetics Part A. 188:2061-2070
Osteoporosis-pseudoglioma syndrome (OPPG; MIM #259770) is a rare autosomal recessively inherited disease, characterized by early-onset osteoporosis and congenital blindness, caused by loss-of-function mutations in the LRP5 gene. Beneficial effects of
Publikováno v:
Dentistry 3000, Vol 4, Iss 1, Pp 34-42 (2016)
Tooth agenesis is the most common developmental abnormality of the human dentition characterized by the congenital absence of one or more permanent teeth. Oligodontia is the term used to describe severe tooth agenesis, where six or more permanent tee
Externí odkaz:
https://doaj.org/article/564d980008124505af029197f01a9566
Autor:
Nilay, Güneş, Esra, Usluer, Aylin, Yüksel Ülker, Dilek, Uludağ Alkaya, Evrim, Çifçi Sunamak, Figen, Celep Eyüpoğlu, Zehra Oya, Uyguner, Beyhan, Tüysüz
Publikováno v:
Turkish archives of pediatrics. 58(1)
Trichorhinophalangeal syndrome is a rare autosomal dominant disorder characterized by distinctive craniofacial and skeletal abnormalities. This study aimed to delineate the trichorhinophalangeal syndrome phenotype and to compare the clinical and mole