Mapping of sudden infant death with dysgenesis of the testes syndrome (SIDDT) by a SNP genome scan and identification of TSPYL loss of function

Proceedings of the National Academy of Sciences of the United States of America

Volumn 101, Issue 32, 2004, Pages 11689-11694

  Puffenberger, Erik G ^a   Hu Lince, Diane ^b   Parod, Jennifer M ^b   Craig, David W ^b   Dobrin, Seth E ^b   Conway, Andrew R ^c   Donarum, Elizabeth A ^d   Strauss, Kevin A ^a   Dunckley, Travis ^b   Cardenas, Javier F ^b   Melmed, Kara R ^b   Wright, Courtney A ^b   Liang, Winnie ^b   Stafford, Phillip ^b   Flynn, C Robert ^e   Morton, D Holmes ^f   Stephan, Dietrich A ^b  

^a CLINIC FOR SPECIAL CHILDREN   (United States)

^b TRANSLATIONAL GENOMICS RESEARCH INSTITUTE   (United States)

^c Silicon Genetics   (United States)

^d BARROW NEUROLOGICAL INSTITUTE   (United States)

^e Arizona State University   (United States)

^f NONE

Author keywords

[No Author keywords available]

Indexed keywords

GREEN FLUORESCENT PROTEIN; HYBRID PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN STEM; CELL NUCLEUS; CHROMOSOME 6Q; CLINICAL ARTICLE; CODON; FEMALE; FRAMESHIFT MUTATION; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE LOSS; GENE MAPPING; GENE SEQUENCE; GENETIC SCREENING; GENETIC TRANSCRIPTION; GENOTYPE; GONADAL DYSGENESIS; HOMOZYGOSITY; HUMAN; HUMAN GENOME; HUMAN TISSUE; MALE; NUCLEOSOME; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; REGULATORY MECHANISM; SEQUENCE ANALYSIS; SEX DIFFERENTIATION DISORDER; SIBLING; SINGLE NUCLEOTIDE POLYMORPHISM; SUDDEN DEATH; SUDDEN INFANT DEATH SYNDROME; SUDDEN INFANT DEATH WITH DYSGENESIS OF THE TESTIS SYNDROME; TSPYL GENE;

ACTIVE TRANSPORT, CELL NUCLEUS; ADULT; CHROMOSOME MAPPING; DNA-BINDING PROTEINS; FAMILY HEALTH; FEMALE; FRAMESHIFT MUTATION; GENOME, HUMAN; GONADAL DYSGENESIS; HUMANS; INFANT; MALE; NUCLEAR PROTEINS; NUCLEOSOMES; PEDIGREE; SEX-DETERMINING REGION Y PROTEIN; SUDDEN INFANT DEATH; TRANSCRIPTION FACTORS;

EID: 4143125609     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0401194101     Document Type: Article

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