Refinement of causative genes in monosomy 1p36 through clinical and molecular cytogenetic characterization of small interstitial deletions

American Journal of Medical Genetics, Part A

Volumn 152, Issue 8, 2010, Pages 1951-1959

  Rosenfeld, Jill A ^a   Crolla, John A ^b   Tomkins, Susan ^c   Bader, Patricia ^d   Morrow, Bernice ^e   Gorski, Jerome ^f   Troxell, Robin ^f   Forster Gibson, Cynthia ^g   Cilliers, Deirdre ^h   Hislop, R Gordon ⁱ   Lamb, Allen ^a   Torchia, Beth ^a   Ballif, Blake C ^a   Shaffer, Lisa G ^a  

^a PerkinElmer   (United States)

^b SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^c ST MICHAEL'S HOSPITAL   (United Kingdom)

^d Parkview Hospital   (United States)

^e ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^f UNIVERSITY OF MISSOURI   (United States)

^g QUEEN S UNIVERSITY   (Canada)

^h ABERDEEN ROYAL INFIRMARY   (United Kingdom)

ⁱ UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

1p36; GABRD; Interstitial deletion; Monosomy; PRKCZ; SKI

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; ATTENTION DEFICIT DISORDER; BEHAVIOR DISORDER; BODY DYSMORPHIC DISORDER; CHILD; CHROMOSOME 1P; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONDUCTION DEAFNESS; CYTOGENETICS; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; FUNNEL CHEST; GENE DELETION; GENE IDENTIFICATION; GRAND MAL SEIZURE; HUMAN; HYPERPHAGIA; INTERSTITIAL CHROMOSOME DELETION; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; MICROCEPHALY; MONOSOMY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; OBESITY; PAIN THRESHOLD; PHENOTYPE; PREMATURE LABOR; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROGNATHIA; SEIZURE; TELANGIECTASIA; TONIC CLONIC SEIZURE; WECHSLER INTELLIGENCE SCALE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; DEVELOPMENTAL DISABILITIES; DNA-BINDING PROTEINS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MALE; MONOSOMY; NERVOUS SYSTEM DISEASES; PHENOTYPE; PROTEIN KINASE C; PROTO-ONCOGENE PROTEINS; RECEPTORS, GABA-A; SEIZURES; SYNDROME; YOUNG ADULT;

EID: 77955286349     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33516     Document Type: Article

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