Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)

Human Mutation

Volumn 28, Issue 11, 2007, Pages 1055-1064

  Poirier, Karine ^a,b   Keays, David A ^c   Francis, Fiona ^a,b   Saillour, Yoann ^a,b   Bahi, Nadia ^a,b   Manouvrier, Sylvie ^d   Fallet Bianco, Catherine ^e   Pasquier, Laurent ^f   Toutain, Annick ^g   Tuy, Françoise Phan Dinh ^a,b   Bienvenu, Thierry ^a,b   Joriot, Sylvie ^d   Odent, Sylvie ^f   Ville, Dorothée ^h   Desguerre, Isabelle ⁱ   Goldenberg, Alice ^j   Moutard, Marie Laure ^a,b   Fryns, Jean Pierre ^k   Van Esch, Hilde ^k   Harvey, Robert J ^l   Siebold, Christian ^c   Flint, Jonathan ^c   Beldjord, Chérif ^a,b   Chelly, Jamel ^a,b   more..

^a INSTITUT COCHIN   (France)

^b INSERM   (France)

^c UNIVERSITY OF OXFORD   (United Kingdom)

^d LILLE UNIVERSITY HOSPITAL   (France)

^e CENTRE HOSPITALIER SAINTE ANNE   (France)

^f RENNES UNIVERSITY HOSPITAL   (France)

^g CHU BRETONNEAU   (France)

^h HÔPITAL DEBROUSSE   (France)

ⁱ HÔPITAL NECKER ENFANTS MALADES   (France)

^j ROUEN UNIVERSITY HOSPITAL   (France)

^k UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^l UNIVERSITY OF LONDON   (United Kingdom)

more..

Author keywords

Epilepsy; Lissencephaly; Mental retardation; Neuronal migration; TUBA1A; TUBA3

Indexed keywords

ALPHA 1A TUBULIN; ALPHA TUBULIN; ETHYLNITROSOUREA; UNCLASSIFIED DRUG;

ADULT; AGYRIA; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BRAIN STEM; CELL MIGRATION; CEREBELLUM; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CORPUS CALLOSUM; DOUBLECORTIN GENE; EMBRYO; EPILEPSY; FEMALE; FETUS; GENE; GENE EXPRESSION; HIPPOCAMPUS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; LIS1 GENE; MALE; MENTAL DEFICIENCY; MICROTUBULE; MISSENSE MUTATION; MOUSE; NERVE CELL DIFFERENTIATION; NEUROPATHOLOGY; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PACHYGYRIA; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; TUBA1A GENE;

MUS;

EID: 35648991438     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20572     Document Type: Article

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