Literature DB >> 23239504

Weaver syndrome and defective cortical development: a rare association.

Ahmed Al-Salem1, Muneera J Alshammari, Hamdy Hassan, Anas M Alazami, Fowzan S Alkuraya.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2012        PMID： 23239504     DOI： 10.1002/ajmg.a.35660

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


× No keyword cloud information.
  7 in total

Review 1.  Malformations of cortical development: clinical features and genetic causes.

Authors:  Renzo Guerrini; William B Dobyns
Journal:  Lancet Neurol       Date:  2014-06-02       Impact factor: 44.182

Review 2.  Discovery of mutations for Mendelian disorders.

Authors:  Fowzan S Alkuraya
Journal:  Hum Genet       Date:  2016-04-11       Impact factor: 4.132

Review 3.  A Structural Perspective on Gene Repression by Polycomb Repressive Complex 2.

Authors:  Xin Liu
Journal:  Subcell Biochem       Date:  2021

4.  Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

Authors:  Ana S A Cohen; Damian B Yap; M E Suzanne Lewis; Chieko Chijiwa; Maria A Ramos-Arroyo; Natália Tkachenko; Valentina Milano; Mélanie Fradin; Margaret L McKinnon; Katelin N Townsend; Jieqing Xu; M I Van Allen; Colin J D Ross; William B Dobyns; David D Weaver; William T Gibson
Journal:  Hum Mutat       Date:  2016-01-12       Impact factor: 4.878

Review 5.  Diagnostic Approach to Macrocephaly in Children.

Authors:  Andrea Accogli; Ana Filipa Geraldo; Gianluca Piccolo; Antonella Riva; Marcello Scala; Ganna Balagura; Vincenzo Salpietro; Francesca Madia; Mohamad Maghnie; Federico Zara; Pasquale Striano; Domenico Tortora; Mariasavina Severino; Valeria Capra
Journal:  Front Pediatr       Date:  2022-01-14       Impact factor: 3.418

6.  The epigenetic state of EED-Gli3-Gli1 regulatory axis controls embryonic cortical neurogenesis.

Authors:  Shuang-Feng Zhang; Shang-Kun Dai; Hong-Zhen Du; Hui Wang; Xing-Guo Li; Yi Tang; Chang-Mei Liu
Journal:  Stem Cell Reports       Date:  2022-08-04       Impact factor: 7.294

7.  Ezh2 is involved in radial neuronal migration through regulating Reelin expression in cerebral cortex.

Authors:  Linnan Zhao; Jun Li; Yuanlin Ma; Jiutao Wang; Wen Pan; Kai Gao; Zhengrong Zhang; Tianlan Lu; Yanyan Ruan; Weihua Yue; Shanting Zhao; Lifang Wang; Dai Zhang
Journal:  Sci Rep       Date:  2015-10-26       Impact factor: 4.379
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.