Identification of Uncommon Recurrent Potocki-Lupski Syndrome-Associated Duplications and the Distribution of Rearrangement Types and Mechanisms in PTLS

American Journal of Human Genetics

Volumn 86, Issue 3, 2010, Pages 462-470

  Zhang, Feng ^a,g   Potocki, Lorraine ^a,b   Sampson, Jacinda B ^c   Liu, Pengfei ^a   Sanchez Valle, Amarilis ^a   Robbins Furman, Patricia ^a   Navarro, Alicia Delicado ^d   Wheeler, Patricia G ^e   Spence, J Edward ^f   Brasington, Campbell K ^f   Withers, Marjorie A ^a   Lupski, James R ^a,b  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^e NEMOURS CHILDREN S HOSPITAL   (United States)

^f CAROLINAS MEDICAL CENTER   (United States)

^g FUDAN UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

OLIGONUCLEOTIDE; RETINOIC ACID INDUCIBLE PROTEIN I;

ADULT; ALLELE; ARTICLE; AUTISM; BIOASSAY; CHILD; CHROMOSOME 17P; COMPARATIVE GENOMIC HYBRIDIZATION; DNA REPLICATION; FEMALE; GENE DUPLICATION; GENE MUTATION; GENE NUMBER; GENE REARRANGEMENT; GENE SEQUENCE; GENETIC DISORDER; GENOME SIZE; HOMOLOGOUS RECOMBINATION; HUMAN; MAJOR CLINICAL STUDY; MALE; MUTATION RATE; POTOCKI LUPSKI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; SCHOOL CHILD; SMITH MAGENIS SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; BASE SEQUENCE; CHILD; CHILD BEHAVIOR DISORDERS; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 17; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISABILITIES; FACIES; FEMALE; GENE REARRANGEMENT; GENOMIC INSTABILITY; HUMANS; MALE; MODELS, GENETIC; PHENOTYPE; RECOMBINATION, GENETIC; SEGMENTAL DUPLICATIONS, GENOMIC; SEQUENCE DELETION; SYNDROME;

EID: 77949275125     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.02.001     Document Type: Article

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