Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes | Zendy

Heather C. Mefford | Zendy; Andrew J. Sharp | Zendy; Carl Baker | Zendy; Andy Itsara | Zendy; Zhaoshi Jiang | Zendy; Karen Buysse | Zendy; Shuwen Huang | Zendy; Viv Maloney | Zendy; John A. Crolla | Zendy; Diana Baralle | Zendy; Amanda Collins | Zendy; Catherine Mercer | Zendy; Koen Norga | Zendy; Thomy de Ravel | Zendy; Koenraad Devriendt | Zendy; Ernie M.H.F. Bongers | Zendy; Nicole de Leeuw | Zendy; William Reardon | Zendy; Stefania Gimelli | Zendy; Frédérique Béna | Zendy; Raoul C. M. Hennekam | Zendy; Alison Male | Zendy; Lorraine Gaunt | Zendy; Jill ClaytonSmith | Zendy; Ingrid Simonic | Zendy; Soo Mi Park | Zendy; Sarju Mehta | Zendy; SereikZainal | Zendy; C. Geoffrey Woods | Zendy; Helen V. Firth | Zendy; Georgina Parkin | Zendy; Marco Fichera | Zendy; S Reitano | Zendy; Mariangela Lo Giudice | Zendy; Kelly E. Li | Zendy; Iris Casuga | Zendy; Adam Broomer | Zendy; Bernard Conrad | Zendy; Markus Schwerzmann | Zendy; Lorenz Räber | Zendy; Sabina Gallati | Zendy; Pasquale Striano | Zendy; Antonietta Coppola | Zendy; John Tolmie | Zendy; Edward S. Tobias | Zendy; Chris J. Lilley | Zendy; Lluı́s Armengol | Zendy; Yves Spysschaert | Zendy; Patrick Verloo | Zendy; Anja De Coene | Zendy; Linde Goossens | Zendy; Geert Mortier | Zendy; Frank Speleman | Zendy; Ellen van Binsbergen | Zendy; Marcel Nelen | Zendy; Ron Hochstenbach | Zendy; Martin Poot | Zendy; Louise Gallagher | Zendy; Michael Gill | Zendy; Jon McClellan | Zendy; MaryClaire King | Zendy; Regina Regan | Zendy; Cindy Skinner | Zendy; Roger E. Stevenson | Zendy; Stylianos E. Antonarakis | Zendy; Caifu Chen | Zendy; Xavier Estivill | Zendy; Björn Menten | Zendy; Giorgio Gimelli | Zendy; Susan Gribble | Zendy; Stuart Schwartz | Zendy; James S. Sutcliffe | Zendy; Tom Walsh | Zendy; Samantha J.L. Knight | Zendy; Jonathan Sebat | Zendy; Corrado Romano | Zendy; Charles E. Schwartz | Zendy; Joris A. Veltman | Zendy; Bert B.A. de Vries | Zendy; Joris Vermeesch | Zendy; John Barber | Zendy; Lionel Willatt | Zendy; May Tassabehji | Zendy; Evan E. Eichler | Zendy

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Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes

Author(s) -

Heather C. Mefford,

Andrew J. Sharp,

Carl Baker,

Andy Itsara,

Zhaoshi Jiang,

Karen Buysse,

Shuwen Huang,

Viv Maloney,

John A. Crolla,

Diana Baralle,

Amanda Collins,

Catherine Mercer,

Koen Norga,

Thomy de Ravel,

Koenraad Devriendt,

Ernie M.H.F. Bongers,

Nicole de Leeuw,

William Reardon,

Stefania Gimelli,

Frédérique Béna,

Raoul C. M. Hennekam,

Alison Male,

Lorraine Gaunt,

Jill ClaytonSmith,

Ingrid Simonic,

Soo Mi Park,

Sarju Mehta,

SereikZainal,

C. Geoffrey Woods,

Helen V. Firth,

Georgina Parkin,

Marco Fichera,

S Reitano,

Mariangela Lo Giudice,

Kelly E. Li,

Iris Casuga,

Adam Broomer,

Bernard Conrad,

Markus Schwerzmann,

Lorenz Räber,

Sabina Gallati,

Pasquale Striano,

Antonietta Coppola,

John Tolmie,

Edward S. Tobias,

Chris J. Lilley,

Lluı́s Armengol,

Yves Spysschaert,

Patrick Verloo,

Anja De Coene,

Linde Goossens,

Geert Mortier,

Frank Speleman,

Ellen van Binsbergen,

Marcel Nelen,

Ron Hochstenbach,

Martin Poot,

Louise Gallagher,

Michael Gill,

Jon McClellan,

MaryClaire King,

Regina Regan,

Cindy Skinner,

Roger E. Stevenson,

Stylianos E. Antonarakis,

Caifu Chen,

Xavier Estivill,

Björn Menten,

Giorgio Gimelli,

Susan Gribble,

Stuart Schwartz,

James S. Sutcliffe,

Tom Walsh,

Samantha J.L. Knight,

Jonathan Sebat,

Corrado Romano,

Charles E. Schwartz,

Joris A. Veltman,

Bert B.A. de Vries,

Joris Vermeesch,

John Barber,

Lionel Willatt,

May Tassabehji,

Evan E. Eichler

Publication year - 2008

Publication title -

new england journal of medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 19.889

H-Index - 1030

eISSN - 1533-4406

pISSN - 0028-4793

DOI - 10.1056/nejmoa0805384

Subject(s) - microcephaly , gene duplication , autism , genetics , disease , speech delay , cataracts , context (archaeology) , phenotype , intellectual disability , pediatrics , medicine , chromosome , biology , pathology , gene , psychiatry , paleontology

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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