Genotype-phenotype correlation in interstitial 6q deletions: A report of 12 new cases

Neurogenetics

Volumn 13, Issue 1, 2012, Pages 31-47

  Rosenfeld, Jill A ^a   Amrom, Dina ^b,c   Andermann, Eva ^b,c   Andermann, Frederick ^b,c   Veilleux, Martin ^b,c   Curry, Cynthia ^d   Fisher, Jamie ^d   Deputy, Stephen ^e   Aylsworth, Arthur S ^f   Powell, Cynthia M ^f   Manickam, Kandamurugu ^f,o   Heese, Bryce ^g,p   Maisenbacher, Melissa ^g   Stevens, Cathy ^h   Ellison, Jay W ^a,i   Upton, Sheila ^j   Moeschler, John ^j   Torres Martinez, Wilfredo ^k   Stevens, Abby ^k   Marion, Robert ^l   Pereira, Elaine Maria ^l   Babcock, Melanie ^m   Morrow, Bernice ^m   Sahoo, Trilochan ^a,q   Lamb, Allen N ^a,r   Ballif, Blake C ^a   Paciorkowski, Alex R ⁿ   Shaffer, Lisa G ^a   more..

^a PERKINELMER INC   (United States)

^b MCGILL UNIVERSITY   (Canada)

^c MCGILL UNIVERSITY   (Canada)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e CHILDREN S HOSPITAL   (United States)

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

^g UNIVERSITY OF FLORIDA   (United States)

^h Children's Hospital   (United States)

ⁱ MAYO CLINIC   (United States)

^j CHILDREN S HOSPITAL AT DARTMOUTH   (United States)

^k INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^l CHILDREN S HOSPITAL AT MONTEFIORE   (United States)

^m ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

ⁿ UNIVERSITY OF WASHINGTON   (United States)

^o NATIONWIDE CHILDREN S HOSPITAL   (United States)

^p CHILDREN S MERCY HOSPITAL   (United States)

^q QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

^r ARUP LABORATORIES   (United States)

more..

Author keywords

6q deletion; Epilepsy; Microarray; Microcephaly; Movement disorders; Prader Willi like phenotype

Indexed keywords

HISTONE DEACETYLASE 2; HS3ST5 PROTEIN; MARCKS PROTEIN; OLIGONUCLEOTIDE; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; ATAXIA; BIOINFORMATICS; BODY DYSMORPHIC DISORDER; BRAIN MALFORMATION; CEREBELLAR VERMAL HYPOPLASIA; CEREBELLUM; CEREBELLUM ATROPHY; CHILD; CHROMOSOME 6Q; CHROMOSOME DELETION; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; CORPUS CALLOSUM; EPILEPSY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE CLUSTER; GENE DOSAGE; GENE EXPRESSION; GENE FUNCTION; GENETIC ASSOCIATION; GENETIC TRANSCRIPTION; GENOTYPE PHENOTYPE CORRELATION; GROWTH RETARDATION; HUMAN; INFANT; INTERSTITIAL 6Q DELETION; LIMB MALFORMATION; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; MOLECULAR GENETICS; MOTOR DYSFUNCTION; PRADER WILLI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; BIOLOGY; CHROMOSOME 6; DEVELOPMENTAL DISORDER; GENETICS; MULTIPLE MALFORMATION SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; COMPUTATIONAL BIOLOGY; DEVELOPMENTAL DISABILITIES; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MICROARRAY ANALYSIS; YOUNG ADULT;

EID: 84861418024     PISSN: 13646745     EISSN: 13646753     Source Type: Journal    
DOI: 10.1007/s10048-011-0306-5     Document Type: Article

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