More or less? Segmental duplications and deletions in the Williams-Beuren syndrome region provide new insights into language development

被引:8
作者
Tassabehji, M [1 ]
Donnai, D [1 ]
机构
[1] Univ Manchester, St Marys Hosp, Acad Unit Med Genet, Manchester M13 0JH, Lancs, England
关键词
D O I
10.1038/sj.ejhg.5201597
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:507 / 508
页数:2
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共 16 条
[1]   Mutational mechanisms of Williams-Beuren syndrome deletions [J].
Bayés, M ;
Magano, LF ;
Rivera, N ;
Flores, R ;
Jurado, LAP .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (01) :131-151
[2]   Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2 [J].
Bi, WM ;
Park, SS ;
Shaw, CJ ;
Withers, MA ;
Patel, PI ;
Lupski, JR .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (06) :1302-1315
[3]   A high-resolution survey of deletion polymorphism in the human genome [J].
Conrad, DF ;
Andrews, TD ;
Carter, NP ;
Hurles, ME ;
Pritchard, JK .
NATURE GENETICS, 2006, 38 (01) :75-81
[4]   Recent duplication, domain accretion and the dynamic mutation of the human genome [J].
Eichler, EE .
TRENDS IN GENETICS, 2001, 17 (11) :661-669
[5]   Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients [J].
Ensenauer, RE ;
Adeyinka, A ;
Flynn, HC ;
Michels, VV ;
Lindor, NM ;
Dawson, DB ;
Thorland, EC ;
Lorentz, CP ;
Goldstein, JL ;
McDonald, MT ;
Smith, WE ;
Simon-Fayard, E ;
Alexander, AA ;
Kulharya, AS ;
Ketterling, RP ;
Clark, RD ;
Jalal, SM .
AMERICAN JOURNAL OF HUMAN GENETICS, 2003, 73 (05) :1027-1040
[6]   HEMIZYGOSITY AT THE ELASTIN LOCUS IN A DEVELOPMENTAL DISORDER, WILLIAMS-SYNDROME [J].
EWART, AK ;
MORRIS, CA ;
ATKINSON, D ;
JIN, WS ;
STERNES, K ;
SPALLONE, P ;
STOCK, AD ;
LEPPERT, M ;
KEATING, MT .
NATURE GENETICS, 1993, 5 (01) :11-16
[7]   The murine CYLN2 gene:: Genomic organization, chromosome localization, and comparison to the human gene that is located within the 7q11.23 Williams syndrome critical region [J].
Hoogenraad, CC ;
Eussen, BHJ ;
Langeveld, A ;
van Haperen, R ;
Winterberg, S ;
Wouters, CH ;
Grosveld, F ;
De Zeeuw, CI ;
Galjart, N .
GENOMICS, 1998, 53 (03) :348-358
[8]   Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplications [J].
Kriek, M ;
White, SJ ;
Szuhai, K ;
Knijnenburg, J ;
van Ommen, GJB ;
den Dunnen, JT ;
Breuning, MH .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2006, 14 (02) :180-189
[9]   Charcot-Marie-tooth polyneuropathy: Duplication, gene dosage, and genetic heterogeneity [J].
Lupski, JR .
PEDIATRIC RESEARCH, 1999, 45 (02) :159-165
[10]   Identification of FOXP2 truncation as a novel cause of developmental speech and language deficits [J].
MacDermot, KD ;
Bonora, E ;
Sykes, N ;
Coupe, AM ;
Lai, CSL ;
Vernes, SC ;
Vargha-Khadem, F ;
McKenzie, F ;
Smith, RL ;
Monaco, AP ;
Fisher, SE .
AMERICAN JOURNAL OF HUMAN GENETICS, 2005, 76 (06) :1074-1080