Linkage to chromosome 2q36.1 in autosomal dominant Dandy-Walker malformation with occipital cephalocele and evidence for genetic heterogeneity

Human Genetics

Volumn 123, Issue 3, 2008, Pages 237-245

  Jalali, Ali ^a,i   Aldinger, Kimberly A ^b   Chary, Ajit ^a   Mclone, David G ^a   Bowman, Robin M ^a   Le, Luan Cong ^c   Jardine, Phillip ^d   Newbury Ecob, Ruth ^e   Mallick, Andrew ^f   Jafari, Nadereh ^a   Russell, Eric J ^a   Curran, John ^a   Nguyen, Pam ^a   Ouahchi, Karim ^g   Lee, Charles ^g   Dobyns, William B ^b   Millen, Kathleen J ^b   Pina Neto, Joao M ^h   Kessler, John A ^a   Bassuk, Alexander G ^a  

^a NORTHWESTERN UNIVERSITY   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

^c HoChiMinh City Hospital   (Viet Nam)

^d BRISTOL ROYAL HOSPITAL FOR CHILDREN   (United Kingdom)

^e ST MICHAEL'S HOSPITAL   (United Kingdom)

^f YEOVIL DISTRICT HOSPITAL   (United Kingdom)

^g BRIGHAM AND WOMEN S HOSPITAL   (United States)

^h UNIVERSITY OF SÃO PAULO   (Brazil)

ⁱ NONE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAZIL; CHROMOSOME 2Q; CHROMOSOME DELETION; CHROMOSOME DELETION 2; CLINICAL ARTICLE; DANDY WALKER SYNDROME; DNA EXTRACTION; FEMALE; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENOME ANALYSIS; HAPLOTYPE; HUMAN; LINKAGE ANALYSIS; MALE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; OCCIPITAL LOBE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS; UNITED STATES; VIET NAM;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 2; DANDY-WALKER SYNDROME; ENCEPHALOCELE; FEMALE; GENES, DOMINANT; GENETIC HETEROGENEITY; GENOME, HUMAN; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LINKAGE (GENETICS); MALE; NUCLEIC ACID HYBRIDIZATION; OCCIPITAL BONE; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 41149155385     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-008-0467-y     Document Type: Article

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