Delineation of mechanisms and regions of dosage imbalance in complex rearrangements of 1p36 leads to a putative gene for regulation of cranial suture closure

European Journal of Human Genetics

Volumn 13, Issue 2, 2005, Pages 139-149

  Gajecka, Marzena ^a   Yu, Wei ^c   Ballif, Blake C ^a,c   Glotzbach, Caron D ^a,b   Bailey, Kristen A ^a,b   Shaw, Chad A ^c   Kashork, Catherine D ^c   Heilstedt, Heidi A ^c   Ansel, David A ^d   Theisen, Aaron ^a   Rice, Ritva ^e   Rice, David P C ^e   Shaffer, Lisa G ^a,b  

^a WASHINGTON STATE UNIVERSITY   (United States)

^b SACRED HEART MEDICAL CENTER   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

^e KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

1p36; Complex rearrangements; Cranial suture closure; MMP23

Indexed keywords

ANTERIOR FONTANEL; ARTICLE; BONE GROWTH; CHROMOSOME 1; CHROMOSOME 1P; CHROMOSOME ARM; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CONCENTRATION RESPONSE; CONTROLLED STUDY; CRANIAL SUTURE; CRANIOFACIAL SYNOSTOSIS; CYTOGENETICS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE CONTROL; GENE DELETION; GENE DOSAGE; GENE EXPRESSION; GENE IDENTIFICATION; GENE OVEREXPRESSION; GENETIC REGULATION; GENOTYPE PHENOTYPE CORRELATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

ANIMALS; CHROMOSOME BREAKAGE; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 1; CRANIAL SUTURES; FEMALE; GENE DOSAGE; GENE DUPLICATION; GENE EXPRESSION REGULATION; HUMANS; INVERSION, CHROMOSOME; MALE; MICE; SEQUENCE DELETION;

EID: 13544266559     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201302     Document Type: Article

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