Results 181 to 190 of about 13,805 (257)

Lissencephaly-pachygyria complex

, 2018
Frank Gaillard, Sameer Peer
openalex   +1 more source

Multiplex Consanguineous Family Highlights CLASP1 as a Candidate Gene for Lissencephaly. [PDF]

Neurol Genet
Alsafh R, Alhashem A, Elsyed A, Yüksel Z, Graiess-Tlili K, Hundallah K, Thabet F, Tabarki B.   +7 more
europepmc   +1 more source

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay.

American Journal of Human Genetics, 2019
Sangmoon Lee, Dillon Y. Chen, M. Zaki, R. Maroofian, H. Houlden, N. Di Donato, D. Abdin, H. Morsy, G. Mirzaa, W. Dobyns, Jennifer McEvoy-Venneri, Valentina Stanley, Kiely N. James, G. Mancini, R. Schot, Tuğba Kalaycı, U. Altunoğlu, E. G. Karimiani, Lauren Brick, M. Kozenko, Y. Jamshidi, M. C. Manzini, Mehran Beiraghi Toosi, J. Gleeson   +23 more
semanticscholar   +1 more source

Gamma-Tubulin 1 (TUBG1) Mutation-Associated Lissencephaly and Microcephaly in an Indian Child: A Rare Case. [PDF]

Cureus
Srivastava P, Swaroop S, Diwakar K, Jaiswal A, Singh M.   +4 more
europepmc   +1 more source

Identification of <i>MACF1</i> as a causative gene of generalised epilepsy. [PDF]

J Med Genet
Lei XY, Zhang MW, Sun H, Song W, Liang XY, Wang CS, Luo S, Li BM, Liu XR, Wang Y, Tian Y, Peng Q, Wang J, Meng H, He N, Liao WP.   +15 more
europepmc   +1 more source

P253 Next-generation phenotyping facilitates the identification of structural brain malformations in rare disorders through computational brain MRI analysis. [PDF]

Genet Med Open
Hsieh TC, Jaddu S, Weiland H, Hagen MT, Li JM, Chang CC, Hsieh SY, Chou HH, Lyon G, Dobyns W, Chen WL.   +10 more
europepmc   +1 more source

Emerging roles of NudC family: from molecular regulation to clinical implications [PDF]

, 2016

core   +1 more source

Walker-Warburg syndrome: A case report of congenital muscular dystrophy with hydrocephalus. [PDF]

Radiol Case Rep
Aref F, Shaaban A, Ahmed A, Gubari M, Hassan J, Alharbi M, Alsubhi K, Alsalhi K, Albalawi S, Ali M, Ali H, Filfilan N, Shmailah E, Ahmed A.   +13 more
europepmc   +1 more source

Congenital Oropouche in Humans: Clinical Characterization of a Possible New Teratogenic Syndrome. [PDF]

Viruses
Ribeiro BFR, Barreto ARF, Pessoa A, Azevedo RDSDS, Rodrigues FF, Borges BDCB, Mantilla NPM, Muniz DD, Chiang JO, Fraga LR, Vianna FSL, Sanseverino MTV, Faccini LS, Martins FEDN, Azevedo RDS, Martins LC, Casseb LMN, Oliveira CS, Vasconcelos PFDC, Quaresma JAS, Abeche AM, Prazeres VMG, Oliveira LAN, Karam SM, Radin G, Del Campo M, Ventura CV, Schuler-Faccini L.   +27 more
europepmc   +1 more source

Lissencephaly caused by a de novo mutation in tubulin TUBA1A: a case report and literature review. [PDF]

Front Pediatr
Ren S, Kong Y, Liu R, Li Q, Shen X, Kong QX.   +5 more
europepmc   +1 more source