Results 121 to 130 of about 11,896 (240)

Lissencephaly with cerebellar hypoplasia type C [PDF]

, 2020
INSERM
openalex   +1 more source

Brain pathology of lissencephaly type 2 with an ISPD pathogenic variant [PDF]

, 2023
Julia Keith, Patrick Shannon
openalex   +1 more source

Cytomegalovirus infection with lissencephaly

Indian Journal of Pathology and Microbiology, 2008
Lissencephaly is a malformation of the brain in which the brain surface is smooth, rather than convoluted. Among the various causes of lissencephaly, infection by a virus during pregnancy plays an important role.
Joseph Leena, Pushpalatha, Kuruvilla Sarah   +2 more
doaj  

Ventriculomegaly, Intrauterine Growth Restriction, and Congenital Heart Defects as Salient Prenatal Sonographic Findings of Miller-Dieker Lissencephaly Syndrome Associated With Monosomy 17p (17p13.2 → pter) in a Fetus

, 2010
Chih‐Ping Chen, Yu‐Peng Liu, Shaun-Pei Lin, Ming Chen, Fuu‐Jen Tsai, Yuting Chen, Li-Feng Chen, Jonathan Kwei Hwang, Wayseen Wang   +8 more
openalex   +1 more source

Classical lissencephaly syndromes: does the face reflect the brain? [PDF]

, 1998
Judith Allanson, David H. Ledbetter, William B. Dobyns   +2 more
openalex   +1 more source

Bi-allelic truncating variants in CASP2 underlie a neurodevelopmental disorder with lissencephaly [PDF]

, 2023
Eyyüp Üçtepe, Barbara Vona, Fatma Nisa Esen, F.M. Sonmez, Thomas Smol, Sait Tümer, Hanifenur Mancılar, Dilan Ece Geylan Durgun, Odile Boute, Meysam Moghbeli, Ehsan Ghayoor Karimiani, Narges Hashemi, Behnoosh Bakhshoodeh, Hyung Goo Kim, Reza Maroofian, Ahmet Yeşilyurt   +15 more
openalex   +1 more source

The role of the lissencephaly protein Pac1 during nuclear migration in budding yeast [PDF]

, 2003
Wei‐Lih Lee, Jessica R. Oberle, John A. Cooper   +2 more
openalex   +1 more source

EP05.49: Early detection matters: prenatal diagnosis of lissencephaly in a primigravida [PDF]

W.C. Chua, V.L. Velayudham, Hasyma Abu Hassan, S. Abu Hanet   +3 more
openalex   +1 more source

Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A [PDF]

, 2008
Catherine Fallet‐Bianco, Laurence Lœuillet, Karine Poirier, Philippe Loget, Françoise Chapon, Laurent Pasquier, Yoann Saillour, Chérif Beldjord, Jamel Chelly, Fiona Francis   +9 more
openalex   +1 more source

Ambiguous Genitalia and Lissencephaly in A 46,XY Neonate with a Novel Variant of Aristaless Gene.

, 2021
Mihail Baša, Rade Vuković, Adrijan Sarajlija, T Milenkovic, Marija Djordjević, B Vucetic, Jelena Martić   +6 more
openalex   +2 more sources