Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Ozge Ozalp, Yuregir"'
Publikováno v:
Cukurova Medical Journal, Vol 37, Iss 1, Pp 60-63 (2012)
The 17 years old boy was diagnosed as Borjeson Forsmann Lehmann Syndrome who was referred to our Genetic Diagnosis Center for his dysmorphic features, obesity, gynecomasty and mental retardation . There are so many diseases in differantial diagnosis
Externí odkaz:
https://doaj.org/article/54d60b1781d44e9eb1e2d75a1e9f4663
Publikováno v:
Turkish Journal of Medical Sciences
Volume: 49, Issue: 5 1411-1417
Volume: 49, Issue: 5 1411-1417
Background/aim: Sinonasal polyposis is a complex chronic disease displaying contributions from multiple genetic and environmental factors. In this study, we analyzed possible genetic factors that increase susceptibility to this widespread inflammator
Autor:
Ozge Ozalp Yuregir, Xiaofei Song, Jennifer E. Posey, Vahid Bahrambeigi, Yavuz Bayram, Zeynep Coban Akdemir, Davut Pehlivan, Donna M. Muzny, Sedat Isikay, Tamar Harel, Ender Karaca, Sevcan Tug Bozdogan, James R. Lupski, Shalini N. Jhangiani, Richard A. Gibbs, Gozde Yesil
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics
PubMedID: 29790871 Purpose: Multilocus variation—pathogenic variants in two or more disease genes—can potentially explain the underlying genetic basis for apparent phenotypic expansion in cases for which the observed clinical features extend beyo
Autor:
Kent W, Small, Stijn, Van de Sompele, Karen, Nuytemans, Andrea, Vincent, Ozge Ozalp, Yuregir, Emine, Ciloglu, Cahfer, Sariyildiz, Toon, Rosseel, Jessica, Avetisjan, Nitin, Udar, Jeffery M, Vance, Margaret A, Pericak-Vance, Elfride, De Baere, Fadi S, Shaya
Publikováno v:
Molecular Vision
Purpose To clinically and molecularly investigate a new family with North Carolina macular dystrophy (NCMD) from Turkey, a previously unreported geographic origin for this phenotype. Methods Clinical ophthalmic examinations, including fundus imaging
Publikováno v:
Meandros Medical and Dental Journal, Vol 19, Iss 2, Pp 175-177 (2018)
Shprintzen-Goldberg syndrome is a rare syndrome with craniosynostosis of coronal, sagittal or lambdoidal sutures, dolichocephaly, typical craniofacial features, skeletal abnormalities, scoliosis, joint hyperextensibility or contractures, neurological
Autor:
Meltem Cerrah Gunes, Ozgur Kirbiyik, Ferda Ozkinay, Ayca Aykut, Tahir Atik, Filiz Hazan, Hüseyin Onay, Aslı Ece Solmaz, Veysel Nijat Baş, Ozge Ozalp Yuregir
Publikováno v:
European Journal of Medical Genetics. 58:689-694
WOS: 000366093100010
PubMed ID: 26518167
Bardet-Biedl Syndrome (BBS) is a rare, autosomal-recessive ciliopathy characterized by obesity, rod-cone dystrophy, postaxial polydactyly, renal abnormalities, genital abnormalities and learning diff
PubMed ID: 26518167
Bardet-Biedl Syndrome (BBS) is a rare, autosomal-recessive ciliopathy characterized by obesity, rod-cone dystrophy, postaxial polydactyly, renal abnormalities, genital abnormalities and learning diff
Autor:
Ali Topak, Ozge Ozalp Yuregir, Akif Ayaz, Kanay Yararbas, Sinem Yalcintepe, Metin Eser, Tamer Celik
Publikováno v:
Clinical dysmorphology. 27(3)
Autor:
Akif Ayaz, Gökhan Kuran, Ozge Ozalp Yuregir, Huseyin Aslan, Sevcan Tug Bozdogan, Osman Kürşat Arıkan, Süheyl Haytoğlu
Publikováno v:
The Journal of International Advanced Otology. 11:118-121
OBJECTIVE To date, studies in all populations showed that mutations in the gene of Gap junction protein beta 2 (GJB2) play an important role in non-syndromic autosomal recessive congenital hearing loss. The aim of this study was to evaluate GJB2 gene
Autor:
Huseyin Aslan, Tomasz Gambin, Donna M. Muzny, Mehmed M. Atik, Ozge Ozalp Yuregir, Zeynep Coban Akdemir, James R. Lupski, Serkan Erdin, Richard A. Gibbs, Ender Karaca, Davut Pehlivan, Yavuz Bayram, Sevcan Tug Bozdogan, Shalini N. Jhangiani
Publikováno v:
American Journal of Medical Genetics Part A. 167:2795-2799
Klippel-Feil syndrome is a rare disorder represented by a subgroup of segmentation defects of the vertebrae and characterized by fusion of the cervical vertebrae, low posterior hairline, and short neck with limited motion. Both autosomal dominant and
Autor:
Kerry A. Miller, Gijs W. E. Santen, Anne Goriely, Alice Gardham, Andrew O.M. Wilkie, Clare V. Logan, Maciej Kliszczak, Deepthi De Silva, Ravi Savarirayan, Donna M. McDonald-McGinn, Stephen R.F. Twigg, Olivier Vanakker, Chris P. Ponting, Louise S. Bicknell, Sumita Danda, Wojciech Niedzwiedz, Elaine H. Zackai, Ozge Ozalp Yuregir, Solaf M. Elsayed, Ezzat Elsobky, Jennie E. Murray, Fay Cooper, Mariëtte J.V. Hoffer, Louise C. Wilson, Andrew P. Jackson, Marije Koopmans, Simon J. McGowan, Luis Sanchez-Pulido, Sevcan Tug Bozdogan, Aimee L. Fenwick, Indira B. Taylor, Steven A. Wall, Joanne Dixon
Publikováno v:
Fenwick, A L, Kliszczak, M, Cooper, F, Murray, J, Sanchez-Pulido, L, Twigg, S R F, Goriely, A, McGowan, S J, Miller, K A, Taylor, I B, Logan, C, Bozdogan, S, Danda, S, Dixon, J, Elsayed, S M, Elsobky, E, Gardham, A, Hoffer, M J V, Koopmans, M, McDonald-McGinn, D M, Santen, G W E, Savarirayan, R, de Silva, D, Vanakker, O, Wall, S A, Wilson, L C, Yuregir, O O, Zackai, E H, Ponting, C P, Jackson, A P, Wilkie, A O M & Niedzwiedz, W & Bicknell, L S 2016, ' Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis ', American Journal of Human Genetics, vol. 99, no. 1, pp. 125-38 . https://doi.org/10.1016/j.ajhg.2016.05.019
American Journal of Human Genetics, 99(1), 125-138
American Journal of Human Genetics, 99(1), 125-138
DNA replication precisely duplicates the genome to ensure stable inheritance of genetic information. Impaired licensing of origins of replication during the G1 phase of the cell cycle has been implicated in Meier-Gorlin syndrome (MGS), a disorder def
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5622fb24b6288cd366c414ea4a24361c
https://www.pure.ed.ac.uk/ws/files/27023217/Mutations_in_CDC45_Encoding_an_Essential_Component_of_the_Pre_Initiation_Complex_accepted_version.pdf
https://www.pure.ed.ac.uk/ws/files/27023217/Mutations_in_CDC45_Encoding_an_Essential_Component_of_the_Pre_Initiation_Complex_accepted_version.pdf