Copy number variation at 1q21.1 results in a spectrum of developmental abnormalities

被引：1

作者：

Aldinger, Kimbery A. ^{[1
]}

机构：

[1] Univ Chicago, Dept Human Genet, Chicago, IL 60637 USA

来源：

CLINICAL GENETICS | 2009年 / 75卷 / 05期

关键词：

FAMILIAL SCHWANNOMATOSIS; NF2;

D O I：

10.1111/j.1399-0004.2009.01186_2.x

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.Mefford H et al.. (2008)N Eng J Med 359: 1685-1699.

引用

页码：425 / 427

页数：3

共 1 条

[1] Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities [J].

Brunetti-Pierri, Nicola ;

Berg, Jonathan S. ;

Scaglia, Fernando ;

Belmont, John ;

Bacino, Carlos A. ;

Sahoo, Trilochan ;

Lalani, Seema R. ;

Graham, Brett ;

Lee, Brendan ;

Shinawi, Marwan ;

Shen, Joseph ;

Kang, Sung-Hae L. ;

Pursley, Amber ;

Lotze, Timothy ;

Kennedy, Gail ;

Lansky-Shafer, Susan ;

Weaver, Christine ;

Roeder, Elizabeth R. ;

Grebe, Theresa A. ;

Arnold, Georgianne L. ;

Hutchison, Terry ;

Reimschisel, Tyler ;

Amato, Stephen ;

Geragthy, Michael T. ;

Innis, Jeffrey W. ;

Obersztyn, Ewa ;

Nowakowska, Beata ;

Rosengren, Sally S. ;

Bader, Patricia I. ;

Grange, Dorothy K. ;

Naqvi, Sayed ;

Garnica, Adolfo D. ;

Bernes, Saunder M. ;

Fong, Chin-To ;

Summers, Anne ;

Walters, W. David ;

Lupski, James R. ;

Stankiewicz, Pawel ;

Cheung, Sau Wai ;

Patel, Ankita .

NATURE GENETICS, 2008, 40 (12) :1466-1471

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