Results 71 to 80 of about 2,243 (170)

A Pachygyria-causing α-Tubulin Mutation Results in Inefficient Cycling with CCT and a Deficient Interaction with TBCB [PDF]

, 2008
Guoling Tian, Xiang‐Peng Kong, Xavier H. Jaglin, Jamel Chelly, David A. Keays, Nicholas J. Cowan   +5 more
openalex   +1 more source

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

, 2007
Karine Poirier, David A. Keays, Fiona Francis, Yoann Saillour, Nadia Bahi, Sylvie Manouvrier, Catherine Fallet‐Bianco, Laurent Pasquier, Annick Toutain, Françoise Phan Dinh Tuy, Thierry Bienvenu, Sylvie Joriot, Sylvie Odent, Dorothée Ville, Isabelle Desguerre, Alice Goldenberg, Marie‐Laure Moutard, Jean‐Pierre Fryns, Hilde Van Esch, Victoria L. Harvey, Christian Siebold, Jonathan Flint, Chérif Beldjord, Jamel Chelly   +23 more
openalex   +1 more source

Lissencephaly-pachygyria spectrum

, 2008
Owen Kang, Frank Gaillard
openalex   +1 more source

A Case of Agyria-Pachygyria Presenting as Seizure Disorder in A Young Girl

, 2019
Shikha Pandey, Mohan Bhusal, PVS Rana
openalex   +2 more sources

Unknown syndrome: pachygyria, joint contractures, and facial abnormalities. [PDF]

, 1989
R M Winter, Brian Harding, J S Hyde
openalex   +1 more source

A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing. [PDF]

Hum Genome Var
Suga K, Sato H, Suzue M, Honma Y, Hayabuchi Y, Nakagawa R, Shinomiya K, Okamoto N, Inoue Y, Tsuchida N, Matsumoto N, Morino H, Izumi Y, Urushihara M.   +13 more
europepmc   +1 more source

Familial Lennox‐Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria [PDF]

, 2010
Kate Lawrence, Davide Mei, Mark R. Newton, Richard J. Leventer, Renzo Guerrini, Samuel F. Berkovic   +5 more
openalex   +1 more source

QARS1 associated developmental epileptic encephalopathy: first report of a rare homozygous missense variant from Pakistan causing nonepileptic phenotype in a family of seven patients and a comprehensive review of the literature. [PDF]

Mol Biol Rep
Ahmad R, Naeem M, Houlden H.
europepmc   +1 more source

Brain Pathways in LIS1-Associated Lissencephaly Revealed by Diffusion MRI Tractography. [PDF]

Brain Sci, 2023
Ortug A, Valli B, Alatorre Warren JL, Shiohama T, van der Kouwe A, Takahashi E.   +5 more
europepmc   +1 more source

A Collodion Baby with Facial Dysmorphism, Limb Anomalies, Pachygyria and Genital Hypoplasia: A Mild Form of Neu-Laxova Syndrome or a New Entity? [PDF]

, 2013
Deren Özcan, Murat Derbent, Deniz Seçkin, Yunus Emre Bıkmaz, Ahmet Muhteşem Ağıldere, Annachiara De Sandre‐Giovannoli, Nicolas Lévy, Berkan Gürakan   +7 more
openalex   +1 more source