Results 211 to 220 of about 13,805 (257)

A Novel Candidate Gene <i>MACF1</i> is Associated with Autosomal Dominant Non-syndromic Hearing Loss in an Iranian Family. [PDF]

Arch Iran Med
Bazazzadegan N, Babanejad M, Banihashemi S, Arzhangi S, Kahrizi K, Booth KT, Najmabadi H.   +6 more
europepmc   +1 more source

Microcephaly Resulting From Congenital Toxoplasmosis: What the Radiologist can Expect to See? A Case Report. [PDF]

Radiol Case Rep
Salma M, Soumia EG, Ihssan HH, Nazik A, Latifa C, Siham EH.   +5 more
europepmc   +1 more source

β-PIX-d, a Member of the ARHGEF7 Guanine Nucleotide Exchange Factor Family, Activates Rac1 and Induces Neuritogenesis in Primary Cortical Neurons. [PDF]

Exp Neurobiol
Kim S, Park H, Kang J, Choi S, Sadra A, Huh SO.   +5 more
europepmc   +1 more source

Lissencephaly Type 1 with subcortical band heterotropia

Raymond Chieng
openalex   +1 more source

Leveraging multiple approaches for the detection of pathogenic deep intronic variants in developmental and epileptic encephalopathies: A case report. [PDF]

Epilepsia Open
Nyaga DM, Hildebrand MS, de Valles-Ibáñez G, Keenan NF, Ye Z, LaFlamme CW, Mefford HC, Bennett MF, Bahlo M, Sadleir LG.   +9 more
europepmc   +1 more source

Phenotypic Variability in Novel Doublecortin Gene Variants Associated with Subcortical Band Heterotopia. [PDF]

Int J Mol Sci
Procopio R, Fortunato F, Gagliardi M, Talarico M, Sammarra I, Sarubbi MC, Malanga D, Annesi G, Gambardella A.   +8 more
europepmc   +1 more source

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Lissencephaly-associated BAIAP2 variant causes defects in neuronal migration during brain development.

Development, 2023
Lissencephaly is a neurodevelopmental disorder characterized by a loss of brain surface convolutions caused by genetic variants that disrupt neuronal migration.
Meng-Han Tsai, Wan-Cian Lin, Shih-Ying Chen, Meng-Ying Hsieh, F. Nian, Haw-Yuan Cheng, Hong-Jun Zhao, Shih-Shun Hung, Chi-Hsin Hsu, Pei-Shan Hou, Chien-Yi Tung, Mei-Hsuan Lee, Jin-Wu Tsai   +12 more
semanticscholar   +1 more source

Novel lissencephaly‐associated DCX variants in the C‐terminal DCX domain affect microtubule binding and dynamics

Epilepsia, 2022
Pathogenic variants in DCX on the X chromosome lead to lissencephaly and subcortical band heterotopia (SBH), brain malformations caused by neuronal migration defects.
Jun-Ru Lin, Ju-Fang Cheng, Yo-Tsen Liu, Ting-Rong Hsu, Kao-Min Lin, Chien Chen, Chia-Ling Lin, Meng-Han Tsai, J. Tsai   +8 more
semanticscholar   +1 more source

Neuropathology of lissencephalies

Child's Nervous System, 1993
The neuropathological findings at autopsy in four cases of type I and three of type II lissencephaly are presented. Type I lissencephaly is characterized by agyriapachygyria with a markedly thickened cerebral cortex with four coarse histological layers. The normally myelinated white matter, often with neuronal heterotopias, is very narrow, and the gray-
M Bergmann, Filippo Gullotta, K. Kuchelmeister   +2 more
openaire   +3 more sources