Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Nursel Elçioğlu"'
Autor:
Ruizhi Duan, Hadia Hijazi, Elif Yilmaz Gulec, Hatice Koçak Eker, Silvia R. Costa, Yavuz Sahin, Zeynep Ocak, Sedat Isikay, Ozge Ozalp, Sevcan Bozdogan, Huseyin Aslan, Nursel Elcioglu, Débora R. Bertola, Alper Gezdirici, Haowei Du, Jawid M. Fatih, Christopher M. Grochowski, Gulsen Akay, Shalini N. Jhangiani, Ender Karaca, Shen Gu, Zeynep Coban-Akdemir, Jennifer E. Posey, Yavuz Bayram, V. Reid Sutton, Claudia M.B. Carvalho, Davut Pehlivan, Richard A. Gibbs, James R. Lupski
Publikováno v:
HGG Advances, Vol 3, Iss 4, Pp 100132- (2022)
Summary: Genetic heterogeneity, reduced penetrance, and variable expressivity, the latter including asymmetric body axis plane presentations, have all been described in families with congenital limb malformations (CLMs). Interfamilial and intrafamili
Externí odkaz:
https://doaj.org/article/335675b4b479443ca3e74cb451032f99
Publikováno v:
The Turkish journal of pediatrics. 51(2)
We report a patient with severe developmental delay, failure to thrive, microbrachycephaly, large anterior fontanel, ocular hypertelorism, broad nasal bridge, low-set ears, long philtrum, micrognathia, partial cleft palate, broad distal digits, abnor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::99fea0c98597db49542a64987b6c59da
https://pubmed.ncbi.nlm.nih.gov/19480332
https://pubmed.ncbi.nlm.nih.gov/19480332
Autor:
Ayşegül Ozantürk, Jan D Marshall, Gayle B Collin, Selma Düzenli, Robert P Marshall, Şükrü Candan, Tülay Tos, İhsan Esen, Mustafa Taşkesen, Atilla Çayır, Şükrü Öztürk, İhsan Üstün, Esra Ataman, Emin Karaca, Taha Reşid Özdemir, İlknur Erol, Fehime Kara Eroğlu, Deniz Torun, Erhan Parıltay, Elif Yılmaz-Güleç, Ender Karaca, M Emre Atabek, Nursel Elçioğlu, İlhan Satman, Claes Möller, Jean Muller, Jürgen K Naggert, Rıza Köksal Özgül
Publikováno v:
Journal of Human Genetics. 60:51-51
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::792f21acfc6290ea05ea191dd8d866a6
https://doi.org/10.1038/jhg.2014.101
https://doi.org/10.1038/jhg.2014.101
Autor:
Münevver, Türkmen, Kübra, Temoçin, Cağlar, Acar, Edi, Levi, Can, Karaman, Gülten, Inan, Nursel, Elçioğlu
Publikováno v:
The Turkish journal of pediatrics. 45(4)
Short rib-polydactyly syndrome (SRPS) is a group of rare, lethal skeletal dysplasias characterized by short ribs and limbs, polydactyly, hypoplastic thorax and visceral anomalies. Our case had coarsening of facial features, low-set ears, lobulated to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::73c84613657dac9350693ce6247ebc97
https://pubmed.ncbi.nlm.nih.gov/14768808
https://pubmed.ncbi.nlm.nih.gov/14768808
Autor:
Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R FitzPatrick
Publikováno v:
PLoS Genetics, Vol 14, Iss 12, p e1007866 (2018)
[This corrects the article DOI: 10.1371/journal.pgen.1002114.].
Externí odkaz:
https://doaj.org/article/5eacb5aa2aef4ceabdeb674476983ece
Autor:
Joe Rainger, Ellen van Beusekom, Jacqueline K Ramsay, Lisa McKie, Lihadh Al-Gazali, Rosanna Pallotta, Anita Saponari, Peter Branney, Malcolm Fisher, Harris Morrison, Louise Bicknell, Philippe Gautier, Paul Perry, Kishan Sokhi, David Sexton, Tanya M Bardakjian, Adele S Schneider, Nursel Elcioglu, Ferda Ozkinay, Rainer Koenig, Andre Mégarbané, C Nur Semerci, Ayesha Khan, Saemah Zafar, Raoul Hennekam, Sérgio B Sousa, Lina Ramos, Livia Garavelli, Andrea Superti Furga, Anita Wischmeijer, Ian J Jackson, Gabriele Gillessen-Kaesbach, Han G Brunner, Dagmar Wieczorek, Hans van Bokhoven, David R Fitzpatrick
Publikováno v:
PLoS Genetics, Vol 7, Iss 7, p e1002114 (2011)
Ophthalmo-acromelic syndrome (OAS), also known as Waardenburg Anophthalmia syndrome, is defined by the combination of eye malformations, most commonly bilateral anophthalmia, with post-axial oligosyndactyly. Homozygosity mapping and subsequent target
Externí odkaz:
https://doaj.org/article/14f960f7e2974b98bdeb21467c0aa11c