High-resolution array CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes in patients with microdeletions of 1q43q44

Human Genetics

Volumn 131, Issue 1, 2012, Pages 145-156

  Ballif, Blake C ^a   Rosenfeld, Jill A ^a   Traylor, Ryan ^a   Theisen, Aaron ^a   Bader, Patricia I ^b   Ladda, Roger L ^c   Sell, Susan L ^c   Steinraths, Michelle ^d   Surti, Urvashi ^e   McGuire, Marianne ^f   Williams, Shelley ^f   Farrell, Sandra A ^g   Filiano, James ^h   Schnur, Rhonda E ⁱ   Coffey, Lauren B ⁱ   Tervo, Raymond C ^j   Stroud, Tracy ^k   Marble, Michael ^l   Netzloff, Michael ^m   Hanson, Kristen ^m   Aylsworth, Arthur S ⁿ   Bamforth, J S ^o   Babu, Deepti ^o   Niyazov, Dmitriy M ^p   Ravnan, J Britt ^a   Schultz, Roger A ^a   Lamb, Allen N ^a   Torchia, Beth S ^a   Bejjani, Bassem A ^a   Shaffer, Lisa G ^a   more..

^a PerkinElmer   (United States)

^b Northeast Indiana Genetic Counseling Center   (United States)

^c PENN STATE MILTON S HERSHEY MEDICAL CENTER   (United States)

^d VICTORIA GENERAL HOSPITAL   (Canada)

^e UNIVERSITY OF PITTSBURGH   (United States)

^f CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^g CREDIT VALLEY HOSPITAL   (Canada)

^h DARTMOUTH HITCHCOCK MEDICAL CENTER   (United States)

ⁱ Department of Anesthesiology   (United States)

^j GILLETTE CHILDREN'S SPECIALTY HEALTHCARE   (United States)

^k UNIVERSITY OF MISSOURI   (United States)

^l LOUISIANA STATE UNIVERSITY HEALTH SCIENCES CENTER   (United States)

^m MICHIGAN STATE UNIVERSITY   (United States)

ⁿ UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^o UNIVERSITY OF ALBERTA   (Canada)

^p OCHSNER CLINIC FOUNDATION   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AKT3 PROTEIN; C1ORF199 PROTEIN; FAM36A PROTEIN; HNRNPU PROTEIN; PROTEIN; PROTEIN KINASE B; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN; ZINC FINGER PROTEIN 238;

ADOLESCENT; ARTICLE; BRAIN REGION; CHILD; CHROMOSOME DELETION; CHROMOSOME DELETION 1Q43Q44; CLINICAL ARTICLE; COMPARATIVE GENOMIC HYBRIDIZATION; CORPUS CALLOSUM AGENESIS; FEMALE; GENETIC ASSOCIATION; HAPLOINSUFFICIENCY; HUMAN; INFANT; MALE; MICROARRAY ANALYSIS; MICROCEPHALY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCHOOL CHILD; SEIZURE;

ABNORMALITIES, MULTIPLE; ADOLESCENT; AGENESIS OF CORPUS CALLOSUM; BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE; SEIZURES; SYNDROME;

EID: 84856656664     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-011-1073-y     Document Type: Article

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