Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Bilgen Bilge Geçkinli"'
Autor:
Ceren Alavanda, Esra Arslan Ateş, Zehra Yavaş Abalı, Bilgen Bilge Geçkinli, Serap Turan, Ahmet Arman
Publikováno v:
Clinical Genetics.
Schaaf-Yang syndrome (SHFYNG) is a rare pleiotropic disorder, characterized by hypotonia, joint contractures, autism spectrum disorders (ASD), and developmental delay/intellectual disability. Although it shares some common features with Prader-Willi
Autor:
Aslıhan Kiraz, Ozlem Sezer, Adem Alemdar, Sezin Canbek, Nilgun Duman, Atıl Bisgin, Tulin Cora, Hatice Ilgın Ruhi, Mahmut Cerkez Ergoren, Bilgen Bilge Geçkinli, Sebnem Ozemri Sag, Hilmi Erdem Gözden, Ozlem Oz, Zuhal Mert Altıntaş, Sinem Yalcıntepe, Adem Keskin, Ayşegül Yabacı Tak, Şeyma Aktaş Paskal, Uğur Fahri Yürekli, Mercan Demirtas, Emine Unal Evren, Abdullah Hanta, Müşerref Başdemirci, Kaya Suer, Burhan Balta, Nadir Kocak, Halil Gürhan Karabulut, Havva Cobanogulları, Esra Arslan Ateş, Sevcan Tuğ Bozdoğan, Damla Eker, Sadiye Ekinci, Süleyman Nergiz, Timur Tuncalı, Serap Yagbasan, Ceren Alavanda, Nuket Yurur Kutlay, Hakan Evren, Murat Erdoğan, Sule Altıner, Tamer Sanlidag, Gizem Akıncı Gonen, Arzu Vicdan, Nazan Eras, Hatice Koçak Eker, Ozgür Balasar, Gulten Tuncel, Munis Dundar, Hakan Gurkan, Sehime Gulsun Temel
Thrombotic and microangiopathic effects have been reported in COVID-19 patients. This study examined the contribution of the hereditary thrombophilia factors Prothrombin (FII) and Factor V Leiden (FVL) genotypes to the severity of COVID-19 disease an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::012a2db7faa6ca88f32d5fd353b005ee
https://hdl.handle.net/11424/287280
https://hdl.handle.net/11424/287280
Autor:
Sevcan Tug Bozdogan, Ahmet C. Ceylan, Alper Gezdirici, Sukru Candan, Harsha Doddapaneni, Daniel G. Calame, Muhsin Elmas, Özlem Sezer, Shalini N. Jhangiani, Osman Yeşilbaş, Davut Gul, Sinem Yalcintepe, Nursel Elcioglu, Akif Ayaz, Jennifer E. Posey, Ozge Ozalp, Haowei Du, Yavuz Bayram, Betül Kılıç, Moez Dawood, Hatip Aydin, Serdal Güngör, Angad Jolly, Ender Karaca, Haktan Bağış Erdem, Vehap Topcu, Christopher M. Grochowski, Sedat Işıkay, Elif Yilmaz Gulec, Richard A. Gibbs, Ruizhi Duan, Emine Demiral, Donna M. Muzny, Jianhong Hu, Jaya Punetha, Tadahiro Mitani, Tulay Tos, Davut Pehlivan, Huseyin Aslan, Jawid M Fatih, Isabella Herman, Gozde Yesil, Salih Cicek, Zeynep Coban Akdemir, Bilgen Bilge Geçkinli, James R. Lupski, Claudia M.B. Carvalho, Gulsen Akay, Dana Marafi
Publikováno v:
Am J Hum Genet
Neurodevelopmental disorders (NDD5) are clinically and genetically heterogenous; many such disorders are secondary to perturbation in brain development and/or function. The prevalence of NDD5 is > 3%, resulting in significant sociocultural and econom
Autor:
Ceren Alavanda, Sirin Funda Eren, Ayberk Turkyilmaz, Esra Arslan Ates, Esra Esim Büyükbayrak, Bilgen Bilge Geçkinli, Ahmet Arman
Publikováno v:
Genetic Testing and Molecular Biomarkers. 25:445-451
Background: Meckel–Gruber syndrome (MKS; OMIM No. 249000) is a rare, in utero lethal disease characterized by occipital encephalocele, polycystic kidneys, and polydactyly. Methodology and Results: ...
Autor:
Tulay Guran, Serap Turan, Sare Betul Kaygusuz, Bilgen Bilge Geçkinli, Maria Lillina Vignola, Esra Arslan Ates, Burcu Volkan, Carles Gaston-Massuet, Abdullah Bereket
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 106:e4142-e4154
Context Developmental disorders of the pituitary gland leading to congenital hypopituitarism can either be isolated or associated with extrapituitary abnormalities (syndromic hypopituitarism). A large number of syndromic hypopituitarism cases are lin
Autor:
Ceren Alavanda, Bilgen Bilge Geçkinli, Ayberk Turkyilmaz, Pinar Ata, Esra Arslan Ates, Ahmet Arman, Kenan Delil, Mehmet Ali Söylemez
Publikováno v:
Molecular Syndromology. 12:179-185
Polycystic kidney disease (PKD) is a life-threatening condition resulting in end-stage renal disease. Two major forms of PKD are defined according to the inheritance pattern. Autosomal dominant PKD (ADPKD) is characterized by renal cysts, where nearl
Autor:
Sixto Garcia Minaur, Pankaj B. Agrawal, A. Micheil Innes, Catherine A. Brownstein, David S. Wargowski, Brenda McInnes, Isaac Wong, Albert E. Chudley, Jennifer E. Posey, Francesc López-Giráldez, Ping-Yee B Au, Alper Gezdirici, Kyrieckos A. Aleck, Eric Boerwinkle, Paolo Prontera, Bilgen Bilge Geçkinli, Yeting Zhang, An Nguyen, David A. Dyment, Jukka S. Moilanen, Alan H. Beggs, Nara Sobreira, Hatip Aydin, Elizabeth E. Blue, Kathryn Dunn, Gerald F. Cox, Bernard N. Chodirker, Harrison Brand, Jinchuan Xing, Hind Al Sharhan, Bert B.A. de Vries, Maria Juliana Rodovalho Doriqui, Davut Pehlivan, Shalini N. Jhangiani, Centers for Mendelian Genomics, Katrin Õunap, Cheryl R. Greenberg, Kaya Bilguvar, Carol L. Clericuzio, Cynthia J. Curry, Taila Hartley, Julie Lauzon, Michael J. Bamshad, Timothy Poterba, R. Brian Lowry, Jill A. Fahrner, Cullen M. Dutmer, M. E. Suzanne Lewis, Steve Buyske, Ender Karaca, Aziz Mhanni, William T. Gibson, Valentina Stanley, April Hall, Elke de Boer, Kristin D. Kernohan, Joseph G. Gleeson, P. Dane Witmer, Jungmin Choi, Danny Antaki, Małgorzata J.M. Nowaczyk, Sander Pajusalu, Anne H. O’Donnell-Luria, Sarah L. Sawyer, Zeynep Coban Akdemir, Tara C. Matise, Jennifer McEvoy-Venneri, Casie A. Genetti, Kym M. Boycott, Lynette S. Penney, Ada Hamosh, Eleina M. England, Deniz Torun, Maha S. Zaki, Deborah A. Nickerson
Publikováno v:
Am J Med Genet A
Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a "Dubowitz-like" condition, althou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62d9fcc3e2207989ee26f7c3b468b59d
https://hdl.handle.net/11424/243257
https://hdl.handle.net/11424/243257
Autor:
Hamza Polat, Ceren Alavanda, Özlem Yıldırım, Alper Han Cebi, Bilgen Bilge Geçkinli, Ayberk Turkyilmaz, Ahmet Ilter Güney, Esra Arslan Ates, Pinar Ata, Şenol Demir, Ahmet Arman
Publikováno v:
Journal of human genetics. 66(11)
CES (Clinical Exome Sequencing) is a method that we use to diagnose rare diseases with nonspesific clinical features. Besides primary indication for testing genetic information may be detected about diseases which have not yet emerged. ACMG guideline
Publikováno v:
Clinical dysmorphology. 30(1)
LMNA gene encodes A-type lamins and the encoded proteins join the structure of the nuclear lamina and affect the processes of nuclear homeostasis, DNA replication, repair, transcription, and apoptosis. LMNA variants cause a heterogeneous group of dis