Results 141 to 150 of about 11,896 (240)

Intracellular Logistics Coordinated by LIS1 and Lissencephaly

, 2011
Masami Yamada
openalex   +2 more sources

Lissencephaly

, 2012
  +4 more sources

Capturing disease severity in LIS1-lissencephaly reveals proteostasis dysregulation in patient-derived forebrain organoids. [PDF]

Nat Commun
Zillich L, Gasparotto M, Rossetti AC, Fechtner O, Maillard C, Hoffrichter A, Zillich E, Jabali A, Marsoner F, Artioli A, Wilkens R, Schroeter CB, Hentschel A, Witt SH, Melzer N, Meuth SG, Ruck T, Koch P, Roos A, Bahi-Buisson N, Francis F, Ladewig J.   +21 more
europepmc   +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

In vitro characterization of neurite extension using induced pluripotent stem cells derived from lissencephaly patients with TUBA1A missense mutations [PDF]

, 2016
Yohei Bamba, Tomoko Shofuda, Mitsuhiro Kato, Ritsuko K. Pooh, Yoko Tateishi, Jun‐ichi Takanashi, Hidetsuna Utsunomiya, Miho Sumida, Daisuke Kanematsu, Hiroshi Suemizu, Yuichiro Higuchi, Wado Akamatsu, Denis Gallagher, Freda D. Miller, Mami Yamasaki, Yonehiro Kanemura, Hideyuki Okano   +16 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

Rethinking fetal central nervous system anomalies: predicting central nervous system anomalies with corpus callosum to head circumference and occipitofrontal diameter ratios. [PDF]

BMC Pregnancy Childbirth
Duymuş AC, Bozbay N, Kılıç Ş, Yıldırım O, Örgül G, Pekin AT.   +5 more
europepmc   +1 more source

A Case of Neonatal Hypomelanosis of Ito With Early-Onset Refractory Seizures and Cortical Malformations. [PDF]

Cureus
Alassouli YM, Tahir S, Vrushabhendra S, Kashyape P, Thyagarajan M, O E Babiker M.   +5 more
europepmc   +1 more source

[Lissencephaly].

Gaceta medica de Mexico, 2006
Verónica, Mota, Oscar F, Valdivieso, Laura, Quiroz, José Luis, Criales   +3 more
openaire   +1 more source

Deep clinical and genetic analysis of 17p13.3 region: 38 pediatric patients diagnosed using next-generation sequencing and literature review. [PDF]

BMC Med Genomics
Ji X, Xu Q, Lu Y, Liu B, Xiao F, Ni Q, Xu S, Liu R, Li G, Wu B, Zhou S, Wang H.   +11 more
europepmc   +1 more source