Distinct cerebellar foliation anomalies in a CHD7 haploinsufficient mouse model of CHARGE syndrome

American Journal of Medical Genetics, Part C: Seminars in Medical Genetics

Volumn 175, Issue 4, 2017, Pages

  Whittaker, Danielle E ^a,b   Kasah, Sahrunizam ^a   Donovan, Alex P A ^a   Ellegood, Jacob ^c   Riegman, Kimberley L H ^a   Volk, Holger A ^b   McGonnell, Imelda ^b   Lerch, Jason P ^c,d   Basson, M Albert ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b ROYAL VETERINARY COLLEGE   (United Kingdom)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d UNIVERSITY OF TORONTO   (Canada)

Author keywords

cerebellum; CHARGE syndrome; CHD7; fissures; foliation; mouse

Indexed keywords

FIBROBLAST GROWTH FACTOR 8; CHD7 PROTEIN, MOUSE; DNA BINDING PROTEIN;

ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN HISTOLOGY; BRAIN MALFORMATION; BRAIN SIZE; CEREBELLAR FOLIATION ANOMALY; CEREBELLUM DISEASE; CEREBELLUM HYPOPLASIA; CHD7 GENE; CONTROLLED STUDY; ENGRAILED GENE; FGF8 GENE; GENE; GENE EXPRESSION; HAPLOINSUFFICIENCY; MOUSE; MOUSE MODEL; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PERINATAL DEVELOPMENT; PRIORITY JOURNAL; SYNDROME CHARGE; ZIC1 GENE; ABNORMALITIES; ANIMAL; BIOPSY; CEREBELLUM; DEVELOPMENTAL DISORDER; DISEASE MODEL; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ASSOCIATION STUDY; GENETICS; GENOTYPE; IMMUNOHISTOCHEMISTRY; METABOLISM; NERVOUS SYSTEM MALFORMATION; PATHOLOGY; PHENOTYPE; PROCEDURES; TRANSGENIC MOUSE;

ANIMALS; BIOPSY; CEREBELLUM; CHARGE SYNDROME; DEVELOPMENTAL DISABILITIES; DISEASE MODELS, ANIMAL; DNA-BINDING PROTEINS; GENETIC ASSOCIATION STUDIES; GENOTYPE; HAPLOINSUFFICIENCY; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION, FLUORESCENCE; MAGNETIC RESONANCE IMAGING; MICE; MICE, TRANSGENIC; NERVOUS SYSTEM MALFORMATIONS; PHENOTYPE;

EID: 85034786779     PISSN: 15524868     EISSN: 15524876     Source Type: Journal    
DOI: 10.1002/ajmg.c.31595     Document Type: Article

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