Literature DB >> 16906346

Periventricular heterotopia with complete agenesis of the corpus callosum : a case report.

J Neal, G P Raju, A Bodell, K Apse, C A Walsh, V L Sheen.   

Abstract

Entities:  

Mesh：

Year:  2006        PMID： 16906346     DOI： 10.1007/s00415-006-0182-3

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


× No keyword cloud information.
  7 in total

1.  Increased filamin binding to beta-integrin cytoplasmic domains inhibits cell migration.

Authors:  D A Calderwood; A Huttenlocher; W B Kiosses; D M Rose; D G Woodside; M A Schwartz; M H Ginsberg
Journal:  Nat Cell Biol       Date:  2001-12       Impact factor: 28.824

2.  Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32.

Authors:  Melissa B Ramocki; James Dowling; Inessa Grinberg; Virginia E Kimonis; Carlos Cardoso; Alyssa Gross; June Chung; Christa Lese Martin; David H Ledbetter; William B Dobyns; Kathleen J Millen
Journal:  Eur J Hum Genet       Date:  2003-07       Impact factor: 4.246

3.  Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome.

Authors:  V L Sheen; A Jansen; M H Chen; E Parrini; T Morgan; R Ravenscroft; V Ganesh; T Underwood; J Wiley; R Leventer; R R Vaid; D E Ruiz; G M Hutchins; J Menasha; J Willner; Y Geng; K W Gripp; L Nicholson; E Berry-Kravis; A Bodell; K Apse; R S Hill; F Dubeau; F Andermann; J Barkovich; E Andermann; Y Y Shugart; P Thomas; M Viri; P Veggiotti; S Robertson; R Guerrini; C A Walsh
Journal:  Neurology       Date:  2005-01-25       Impact factor: 9.910

4.  Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.

Authors:  V L Sheen; P H Dixon; J W Fox; S E Hong; L Kinton; S M Sisodiya; J S Duncan; F Dubeau; I E Scheffer; S C Schachter; A Wilner; R Henchy; P Crino; K Kamuro; F DiMario; M Berg; R Kuzniecky; A J Cole; E Bromfield; M Biber; D Schomer; J Wheless; K Silver; G H Mochida; S F Berkovic; F Andermann; E Andermann; W B Dobyns; N W Wood; C A Walsh
Journal:  Hum Mol Genet       Date:  2001-08-15       Impact factor: 6.150

Review 5.  Mechanisms regulating the development of the corpus callosum and its agenesis in mouse and human.

Authors:  L J Richards; C Plachez; T Ren
Journal:  Clin Genet       Date:  2004-10       Impact factor: 4.438

6.  Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

Authors:  J W Fox; E D Lamperti; Y Z Ekşioğlu; S E Hong; Y Feng; D A Graham; I E Scheffer; W B Dobyns; B A Hirsch; R A Radtke; S F Berkovic; P R Huttenlocher; C A Walsh
Journal:  Neuron       Date:  1998-12       Impact factor: 17.173

7.  Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex.

Authors:  Volney L Sheen; Vijay S Ganesh; Meral Topcu; Guillaume Sebire; Adria Bodell; R Sean Hill; P Ellen Grant; Yin Yao Shugart; Jaime Imitola; Samia J Khoury; Renzo Guerrini; Christopher A Walsh
Journal:  Nat Genet       Date:  2003-11-30       Impact factor: 38.330
  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.