Results 101 to 110 of about 8,041 (202)

[Polysomnography on lissencephaly].

No to hattatsu = Brain and development, 1984
Hiura, Kyoichi, Hashimoto, Toshiaki, Fukuda, Kuniaki, Endo, Shoichi, Tayama, Masanobu, Mori, Akio, Miyao, Masuhide, Fujino, Kayo   +7 more
openaire   +2 more sources

An in vitro model of lissencephaly: Expanding the role of DCX during neurogenesis

, 2018
Lissencephaly comprises a spectrum of brain malformations due to impaired neuronal migration in the developing cerebral cortex. Classical lissencephaly is characterized by smooth cerebral surface and cortical thickening that result in seizures, severe ...
Pronk, R J, Anderli, B-M, Jahan, Salma, Day, K, Moslem, M, Lam, M, Falk, R, Linker, S B, Shahsavani, M, Schuster, J   +9 more
core  

Prenatal sonographic features of Miller-Dieker syndrome

, 2012
[[abstract]]Miller-Dieker syndrome (MDS) is a contiguous gene deletion disorder involving genes on chromosome 17p13.3. Clinical manifestations include central nervous system (CNS) anomalies (mainly Type I lissencephaly), facial dysmorphism, growth ...
陳持平;Chen, Chih-Ping
core  

Rare Xq23 Microdeletion Involving the DCX and PAK3 Genes Presenting With Lissencephaly, Agenesis of the Corpus Callosum, and Intractable Epilepsy: A Case Report. [PDF]

Cureus
Safar DH, Attaa ZF, Atieh F, Jadah RHSH.
europepmc   +1 more source

Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study. [PDF]

Front Genet
Tong J, Chen X, Wang T, Ma S, Zhao Y, Shi D, Wang X, Yan D.   +7 more
europepmc   +1 more source

Classical Lissencephaly associated with dolichocephaly, hair and nail defect.

, 2006
We report on an 1-day-old boy with classical lissencephaly (grade 1, according to Kato and Dobyns, 2003) associated with an extended phenotype, including dolichocephaly, and hair and nail defects.
ROTMENSCH S., ZANNOLLI R., SWIFT JA, LIBERATI, Marco, SABATINO, Giuseppe, PALLOTTA, Rosanna, CELENTANO C., DOMIZIO S., COLOSIMO, Cesare, SAPONARI, ANITA, BUONI S.   +10 more
core  

When the Cytoskeleton Fails: Primary Structural Defects Underlying Disorders with Neurological Involvement. [PDF]

Int J Mol Sci
Terzopoulos G, Axarloglou E, Sintou E, Makridou A, Gargani S, Meditskou S, Manthou ME, Theotokis P, Dermitzakis I.   +8 more
europepmc   +1 more source

Lissencephaly

, 2012
  +4 more sources

Deep learning-based identification of causative genes in lissencephaly using 3D-MRI volumetric datasets. [PDF]

Neuroimage Rep
Takahashi N, Sato Y, Kato M, Yamaguchi A.   +3 more
europepmc   +1 more source

Managing Drug-Resistant Epilepsy and Severe Feeding Difficulties in Miller-Dieker Syndrome: The Role of Enteral Ketogenic Diet. [PDF]

Case Rep Pediatr
Michela P, Matteo P, Pasqua P, Paola R, Silvana G, Monica F.   +5 more
europepmc   +1 more source