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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
Authors
Heather Mefford,Andrew Sharp
Carl Baker,Andy Itsara,Zhaoshi Jiang,Karen Buysse,Shuwen Huang,Viv Maloney,John Crolla,Diana Baralle,Amanda Collins,Emmanuelle Lemyre,Koen Norga,Thomy Ravel,Koenraad Devriendt,Ernie Bongers,Nicole Leeuw,William Reardon,Stefania Gimelli,Frédérique Bena,Raoul Hennekam,Alison Male,Graeme Black,Jill Clayton‐Smith,Ingrid Simonic,Soo-Mi Park,Sarju Mehta,Serena Nik-Zainal,C. Woods,Helen Firth,Georgina Parkin,Francesca Mari,S Reitano,Mariangela Giudice,Kelly Li,Iris Casuga,Adam Broomer,Bernard Conrad,Markus Schwerzmann,Lorenz Räber,Sabina Gallati,Pasquale Striano,Antonietta Coppola,John Tolmie,Edward Tobias,Chris Lilley,Lluı́s Armengol,Yves Spysschaert,Patrick Verloo,Anja Coene,Linde Goossens,Geert Mortier,Frank Speleman,Ellen Binsbergen,Marcel Nelen,Ron Hochstenbach,Martin Poot,Louise Gallagher,Michael Gill,Jon McClellan,Mary‐Claire King,Regina Regan,Cindy Skinner,Roger Stevenson,Stylianos Antonarakis,Caifu Chen,Xavier Estivill,Björn Menten,Giorgio Gimelli,Susan Gribble,Stuart Schwartz,James Sutcliffe,Tom Walsh,Samantha Knight,Jonathan Sebat,Corrado Romano,Charles Schwartz,Joris Veltman,Bert Vries,Jean‐Pierre Fryns,John Barber,Lionel Willatt,May Tassabehji,Evan Eichler
+82 authors
,Frédérique BénaPublished
Sep 10, 2008
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Abstract
Duplications and deletions in the human genome can cause disease or predispose persons to disease. Advances in technologies to detect these changes allow for the routine identification of submicroscopic imbalances in large numbers of patients.
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