Zobrazeno 1 - 10
of 71
pro vyhledávání: '"Bernard N. Chodirker"'
Publikováno v:
American Journal of Perinatology Reports, Vol 05, Iss 02, Pp e116-e120 (2015)
Abstract Background Congenital hydrocephalus is a common and often disabling disorder. Various syndromic forms of hydrocephalus have been reported in the Palestinian population including Walker–Warburg syndrome (WWS), Carpenter syndrome, and Meck
Externí odkaz:
https://doaj.org/article/d85b996c59244ce6b77c0b556356d96a
Publikováno v:
The Application of Clinical Genetics.
Christy L Pylypjuk,1 Shiza F Memon,2 Bernard N Chodirker3 1Department of Obstetrics, Gynecology and Reproductive Sciences (Section of Maternal-Fetal Medicine), Childrenâs Hospital Research Institute of Manitoba, University of Manitoba, Winnipeg,
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:
Sherri Burnett, Ronald Agatep, Bernard N. Chodirker, Elizabeth Spriggs, Aizeddin A. Mhanni, Afia Hasnain
Publikováno v:
Molecular Case Studies. 7:a006106
Nonimmune hydrops fetalis, the excessive accumulation of serous fluid in the subcutaneous tissues and serous cavities of the fetus, has many possible etiologies, providing a diagnostic challenge for the physician. Lysosomal storage diseases have been
Autor:
Richard T. Pon, Ryan E. Lamont, Uwe Wolfrum, Robert A. Hegele, Dan Doherty, Fiona Stewart, Martin McKibbin, Jay Shendure, Grischa Toedt, Colin E. Willoughby, Jillian S. Parboosingh, Clem Donahue, Kirsten A. Wunderlich, Lijia Huang, Marius Ueffing, Hannah M. Mitchison, Nasrin Sorusch, Teunis J. P. van Dam, Zakia Abdelhamed, Kym M. Boycott, Francois P. Bernier, Mohammed A. Aldahmesh, Subaashini Natarajan, Bernard N. Chodirker, Carole Ober, Julie Higgins, Matthew Adams, Darren C. Tomlinson, Hilary E. Racher, Thanh Minh T. Nguyen, Ian G. Phelps, Andreas Giessl, Katarzyna Szymanska, Ewan E. Morrison, Albert E. Chudley, Fowzan S. Alkuraya, Panagiotis I. Sergouniotis, Patrick Frosk, Jacquelyn Bond, Miriam Schmidts, Susanne Roosing, Nicola Horn, Gabrielle Wheway, Sandra M. Bell, Carmel Toomes, Toby J. Gibson, Martijn A. Huynen, Philip L. Beales, Gisela G. Slaats, Julie Kennedy, Clare V. Logan, Oliver E. Blacque, Paul M. K. Gordon, Rachel H. Giles, Heymut Omran, Aizeddin A. Mhanni, A. James Barkovich, David A. Parry, A. Micheil Innes, Dorus A. Mans, Jeroen van Reeuwijk, Kristin Kessler, Louis Wolf, Shamsa Anazi, Evan A. Boyle, Karsten Boldt, Ronald Roepman, Joseph G. Gleeson, Andrew R. Webster, Selwa A. Al Hazzaa, Chris F. Inglehearn, Warren Herridge, Christian Thiel, Chandree L. Beaulieu, Colin A. Johnson, Stef J.F. Letteboer
Publikováno v:
Nature cell biology
Nature Cell Biology, 17, 8, pp. 1074-87
Nature Cell Biology, 17, 1074-87
Nature Cell Biology, 17(8), 1074. Nature Publishing Group
Nature Cell Biology, 17, 8, pp. 1074-87
Nature Cell Biology, 17, 1074-87
Nature Cell Biology, 17(8), 1074. Nature Publishing Group
Item does not contain fulltext Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the pr
Publikováno v:
Neuropathology and Applied Neurobiology. 40:946-950
Autor:
Iman S. Abumansour, Albert E. Chudley, Jens Wrogemann, Bernard N. Chodirker, Michael S. Salman
Publikováno v:
Journal of Child Neurology. 29:860-864
Classical lissencephaly may be associated with cerebellar hypoplasia and when significant cerebellar abnormalities occur, defects in proteins encoded by TUBA1A, RELN, and very-low-density lipoprotein receptor ( VLDLR) genes have been reported. We pre
Autor:
Robert A. Hegele, Heleen H. Arts, Somayyeh Fahiminiya, Conrad Goerz, Yangfan P. Liu, Emma L Brown, Carter S Gunn, Chad Russell, Erica E. Davis, J. Philippe, Bernard N. Chodirker, Jacek Majewski, Louise R. Simard, Marc R. Del Bigio, Nicholas Katsanis, Patrick Frosk
Publikováno v:
Journal of Medical Genetics
Background Hydranencephaly is a congenital anomaly leading to replacement of the cerebral hemispheres with a fluid-filled cyst. The goals of this work are to describe a novel autosomal-recessive syndrome that includes hydranencephaly (multinucleated
Publikováno v:
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques. 43(6)
Background: Chronic ataxia, greater than two months in duration, is encountered relatively commonly in clinical pediatric neurology practise and presents with diagnostic challenges. It is caused by multiple and diverse disorders. Our aims were to des
Autor:
Ruobing Zou, Chong Ae Kim, Janet Marcadier, Débora Romeo Bertola, Sarah M. Nikkel, George McGillivray, Matthew A. Lines, Caio Robledo D'Angioli Costa Quaio, Albert E. Chudley, Konrad Platzer, Judith Allanson, Bernard N. Chodirker, Rebecca L. Hood, Dagmar Wieczorek, Jeremy Schwartzentruber, Jacek Majewski, Didier Lacombe, Gabriele Gillessen-Kaesbach, Dennis E. Bulman, Israel Gomy, D. Ross McLeod, Małgorzata J.M. Nowaczyk, Kym M. Boycott, Chandree L. Beaulieu, Jukka S. Moilanen, Susan M. White, Margo L. Whiteford, Beate Albrecht
Publikováno v:
The American Journal of Human Genetics. 90:308-313
Floating-Harbor syndrome (FHS) is a rare condition characterized by short stature, delayed osseous maturation, expressive-language deficits, and a distinctive facial appearance. Occurrence is generally sporadic, although parent-to-child transmission