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A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate.

著者

齋藤伸治

Ikumi Hori

Mitsuhiro Kato

この作品が含まれる作品: Journal of Human Genetics

出版日: 2017-05-18

main subject: polymicrogyria, periventricular nodular heterotopia

Cites articles 11

Date

タイトル

著者

2017-01-13

A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

齋藤伸治, Ikumi Hori, Motoo Nakagawa, Mitsuhiro Kato
2016-10-03

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

Juliette D Godin, Nadia Bahi-Buisson, Karine Poirier, Laurent Nguyen, Gabrielle Rudolf, David Keays, Renzo Guerrini, Annapurna Poduri, Usha Kini, Alistair T Pagnamenta
2016-09-08

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region

Sara Benito-Sanz, Celine Huber, Andrew R. Zinn, Valerie Cormier-Daire
2016-07

Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome

Ikumi Hori, Mitsuhiro Kato, 齋藤伸治
2015-10-28

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

Davide Mei, William B. Dobyns, Patrick Nitschké, Elena Parrini, Jay Shendure, Renzo Guerrini, Allison L Goetsch, Kathryn L Friend, Ghayda Mirzaa, Carissa Olds, Jean-François Deleuze, Jamel Chelly
2015-02-25

PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

William B. Dobyns, Brian J O'Roak, Jay Shendure
2015-10-15

47 patients with FLNA associated periventricular nodular heterotopia

Gerhard Schuierer, Eugen Boltshauser, Luitgard Graul-Neumann
2014-06-02

Malformations of cortical development: clinical features and genetic causes

William B. Dobyns, Renzo Guerrini
2012-03-16

A developmental and genetic classification for malformations of cortical development: update 2012

William B. Dobyns, Renzo Guerrini
2012-12-03

Investigation of the freely available easy-to-use software 'EZR' for medical statistics
2007-06-29

AKT/PKB signaling: navigating downstream

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