Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

Human Molecular Genetics

Volumn 20, Issue 10, 2011, Pages 1975-1988

  Liu, Pengfei ^a   Erez, Ayelet ^a   Nagamani, Sandesh C Sreenath ^a   Bi, Weimin ^a   Carvalho, Claudia M B ^a   Simmons, Alexandra D ^a   Wiszniewska, Joanna ^a   Fang, Ping ^a   Eng, Patricia A ^a   Cooper, M Lance ^a   Sutton, V Reid ^a   Roeder, Elizabeth R ^c   Bodensteiner, John B ^d   Delgado, Mauricio R ^e   Prakash, Siddharth K ^a   Belmont, John W ^a   Stankiewicz, Pawel ^a,f   Berg, Jonathan S ^g   Shinawi, Marwan ^h   Patel, Ankita ^a   Cheung, Sau Wai ^a   Lupski, James R ^a,b   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

^d ST JOSEPH'S HOSPITAL AND MEDICAL CENTER   (United States)

^e UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^f INSTITUTE OF MOTHER AND CHILD   (Poland)

^g UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^h WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME BREAKAGE; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CHROMOSOME XP; CHROMOSOME XP22.31 DUPLICATION; CHROMOSOME XP22.31 TRIPLICATION; COGNITION; CONTROLLED STUDY; FEMALE; GENE DOSAGE; GENE MAPPING; GENOMIC INSTABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; RISK FACTOR;

BASE SEQUENCE; CHROMOSOME BREAKAGE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, X; COMPARATIVE GENOMIC HYBRIDIZATION; DNA COPY NUMBER VARIATIONS; FEMALE; GENE DUPLICATION; GENE ORDER; GENE REARRANGEMENT; HUMANS; MALE; MOLECULAR SEQUENCE DATA; PHENOTYPE; SEGMENTAL DUPLICATIONS, GENOMIC; SEQUENCE ALIGNMENT;

EID: 79955452659     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr078     Document Type: Article

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