Results 91 to 100 of about 2,255 (147)

Lissencephaly-pachygyria spectrum

Mostafa Mohamed
openalex   +2 more sources

Bilateral Frontoparietal Polymicrogyria with Lissencephaly–Pachygyria Complex in Fraternal Twins due to Homozygous Non-sense Mutation in Exon 11 of ADGRG1 Gene: A Case Report

Siddhi Chawla
openalex   +1 more source

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations [PDF]

, 2012
Renzo Guerrini, Davide Mei, Duccio Maria Cordelli, Daniela Pucatti, Emilio Franzonı, Elena Parrini   +5 more
openalex   +1 more source

A Rare Case of Epilepsy in a 16-Year-Old Girl With Fallot Tetralogy Attributed to CNS Heterotopia and Pachygyria [PDF]

, 2007
Smaragda Katsoulakou, Argyro Kiamili, D. Karaiskos   +2 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

Heterozygous inversion on chromosome 17 involving PAFAH1B1 detected by whole genome sequencing in a patient suffering from pachygyria

Jun Chen, Xiaoping Li, George Luo, Xiaoming Yu, Qiu‐Yan Liu, Min Peng, Mei Hou   +6 more
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

New MR/MCA syndrome with distinct facial appearance and general habitus, broad and webbed neck, hypoplastic inverted nipples, epilepsy, and pachygyria of the frontal lobes [PDF]

, 2000
J P Fryns, S AFTIMOS
openalex   +1 more source

Neuropathological findings of very low-density lipoprotein receptor-related cerebellar hypoplasia in a full-term fetus. [PDF]

J Neuropathol Exp Neurol
Newman JM, Vogel H.
europepmc   +1 more source

Lissencephaly-pachygyria spectrum

, 2012
Henry Knipe
openalex   +1 more source