Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

New England Journal of Medicine

Volumn 359, Issue 16, 2008, Pages 1685-1699

  Mefford, H ^b   Sharp, A ^d   Baker, C ^b   Itsara, A ^b   Jiang, Z ^b   Buysse, K ^f   Huang, S ^g   Maloney, V ^g   Crolla, J ^g   Baralle, D ^h   Collins, A ^h   Mercer, C ^h   Norga, K ^p   De Ravel, T ^q   Devriendt, K ^q   Bongers, E ^r   De Leeuw, N ^r   Reardon, W ^u   Gimelli, S ^e   Bena, F ^e   Hennekam, R ^i,t   Male, A ^j   Gaunt, L ^k   Clayton Smith, J ^k   Simonic, I ^m   Park, S ^m   Mehta, S ^m   Nik Zainal, S ^m   Woods, C ^m   Firth, H ^m   Parkin, G ^m   Fichera, M ^w   Reitano, S ^w   Lo Giudice, M ^w   Li, K ^z   Casuga, I ^z   Broomer, A ^z   Conrad, B ^aa   Schwerzmann, M ^ab   Raber L ^ab   Gallati, S ^aa   Striano, P ^x,y   Coppola, A ^x   Tolmie, J ^ac   Tobias, E ^ac   Lilley, C ^ac   Armengol, L ^ad   Spysschaert, Y ^f   Verloo, P ^f   De Coene, A ^f   Goossens, L ^f   Mortier, G ^f   Speleman, F ^f   Van Binsbergen, E ^s   Nelen, M ^s   Hochstenbach, R ^s   Poot, M ^s   Gallagher, L ^v   Gill, M ^v   McClellan, J ^c   King, M C ^b,c   Regan, R ^o   Skinner, C ^ae   Stevenson, R ^ae   Antonarakis, S ^d   Chen, C ^z   Estivill, X ^ad   Menten, B ^f   Gimelli, G ^y   Gribble, S ⁿ   Schwartz, S ^af   Sutcliffe, J ^ag   Walsh, T ^c   Knight, S ^o   Sebat, J ^ah   Romano, C ^w   Schwartz, C ^ae   Veltman, J ^r   De Vries, B ^r   Vermeesch, J ^q   Barber, J ^g   Willatt, L ^m   Tassabehji, M ^l   Eichler, E ^a,b   more..

^a HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF WASHINGTON   (United States)

^d UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^e GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^f GHENT UNIVERSITY HOSPITAL   (Belgium)

^g SALISBURY NHS FOUNDATION TRUST   (United Kingdom)

^h UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^j GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^k ST MARY S HOSPITAL   (United Kingdom)

^l UNIVERSITY OF MANCHESTER   (United Kingdom)

^m ADDENBROOKE S HOSPITAL   (United Kingdom)

ⁿ WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^o CHURCHILL HOSPITAL   (United Kingdom)

^p DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^q UNIVERSITY OF LEUVEN   (Belgium)

^r RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^s UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^t ACADEMIC MEDICAL CENTER   (Netherlands)

^u OUR LADY S CHILDREN S HOSPITAL   (Ireland)

^v ST JAMES S HOSPITAL   (Ireland)

^w OASI RESEARCH INSTITUTE IRCCS   (Italy)

^x UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^y G GASLINI INSTITUTE   (Italy)

^z APPLIED BIOSYSTEMS   (United States)

^aa UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

^ab UNIVERSITY OF BERN   (Switzerland)

^ac ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^ad UNIVERSITAT POMPEU FABRA   (Spain)

^ae GREENWOOD GENETIC CENTER   (United States)

^af UNIVERSITY OF CHICAGO   (United States)

^ag VANDERBILT UNIVERSITY   (United States)

^ah Howard Hughes Medical Institute Cold Spring Harbor Laboratory Cold Spring Harbor   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTISM; CATARACT; CHILD; CHROMOSOME 1Q; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; CONTROLLED STUDY; DISEASE SEVERITY; FEMALE; GENE EXPRESSION; GENETIC DISORDER; GENETIC VARIABILITY; GENOTYPE; HUMAN; MALE; MENTAL DEFICIENCY; MICROCEPHALY; PHENOTYPE; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION;

EID: 54049094444     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa0805384     Document Type: Article

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