2002 Curt Stern Award Address - Genomic disorders: Recombination-based disease resulting from genome architecture

被引：35

作者：

Lupski, JR

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[3] Texas Childrens Hosp, Houston, TX 77030 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2003年 / 72卷 / 02期

关键词：

D O I：

10.1086/346217

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：246 / 252

页数：7

共 30 条

[1] Recent segmental duplications in the human genome [J].

Bailey, JA ;

Gu, ZP ;

Clark, RA ;

Reinert, K ;

Samonte, RV ;

Schwartz, S ;

Adams, MD ;

Myers, EW ;

Li, PW ;

Eichler, EE .

SCIENCE, 2002, 297 (5583) :1003-1007

[2] Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse [J].

Bi, WM ;

Yan, J ;

Stankiewicz, P ;

Park, SS ;

Walz, K ;

Boerkoel, CF ;

Potocki, L ;

Shaffer, LG ;

Devriendt, K ;

Nowaczyk, MJM ;

Inoue, K ;

Lupski, JR .

GENOME RESEARCH, 2002, 12 (05) :713-728

[3] Molecular mechanisms for CMT1A duplication and HNPP deletion [J].

Boerkoel, CF ;

Inoue, K ;

Reiter, LT ;

Warner, LE ;

Lupski, JR .

CHARCOT-MARIE-TOOTH DISORDERS, 1999, 883 :22-35

[4]

Cann HM, 2002, SCIENCE, V296, P261

[5] TRANSIENT SIMULATION OF FREQUENCY-DEPENDENT NONUNIFORM COUPLED LOSSY TRANSMISSION-LINES [J].

CHANG, FY .

IEEE TRANSACTIONS ON COMPONENTS PACKAGING AND MANUFACTURING TECHNOLOGY PART B-ADVANCED PACKAGING, 1994, 17 (01) :3-14

[6] Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome [J].

Chen, KS ;

Manian, P ;

Koeuth, T ;

Potocki, L ;

Zhao, Q ;

Chinault, AC ;

Lee, CC ;

Lupski, JR .

NATURE GENETICS, 1997, 17 (02) :154-163

[7] Segmental duplications: An 'expanding' role in genomic instability and disease [J].

Emanuel, BS ;

Shaikh, TH .

NATURE REVIEWS GENETICS, 2001, 2 (10) :791-800

[8] Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome [J].

Estivill, X ;

Cheung, J ;

Pujana, MA ;

Nakabayashi, K ;

Scherer, SW ;

Tsui, LC .

HUMAN MOLECULAR GENETICS, 2002, 11 (17) :1987-1995

[9]

GREENBERG F, 1991, AM J HUM GENET, V49, P1207

[10] Molecular mechanisms for genomic disorders [J].

Inoue, K ;

Lupski, JR .

ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, 2002, 3 :199-242

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