Literature DB >> 6538754

Mental retardation-clasped thumb syndrome.

G W Yeatman.   

Abstract

Entities:  

Mesh：

Year:  1984        PMID： 6538754     DOI： 10.1002/ajmg.1320170127

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


× No keyword cloud information.
  11 in total

1.  MASA syndrome (a form of complicated spastic paraplegia) and X linked hydrocephalus: variable expression of the same mutation at Xq28? Call for families.

Authors:  C Schrander-Stumpel; J Fryns; J J Cassiman; E Legius; A Spaepen; C J Höweler
Journal:  J Med Genet       Date:  1992-03       Impact factor: 6.318

2.  Further localization of X-linked hydrocephalus in the chromosomal region Xq28.

Authors:  P J Willems; L Vits; P Raeymaekers; J Beuten; P Coucke; J J Holden; C Van Broeckhoven; S T Warren; M Sagi; D Robinson
Journal:  Am J Hum Genet       Date:  1992-08       Impact factor: 11.025

Review 3.  X linked mental retardation.

Authors:  I A Glass
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

Review 4.  X linked hydrocephalus and MASA syndrome.

Authors:  S Kenwrick; M Jouet; D Donnai
Journal:  J Med Genet       Date:  1996-01       Impact factor: 6.318

5.  MASA syndrome: further clinical delineation and chromosomal localisation.

Authors:  R M Winter; K E Davies; M V Bell; S M Huson; M N Patterson
Journal:  Hum Genet       Date:  1989-07       Impact factor: 4.132

6.  Genotype-phenotype correlation in L1 associated diseases.

Authors:  E Fransen; G Van Camp; R D'Hooge; L Vits; P J Willems
Journal:  J Med Genet       Date:  1998-05       Impact factor: 6.318

7.  X-linked hydrocephalus: clinical heterogeneity at a single gene locus.

Authors:  F Serville; S Lyonnet; A Pelet; M Reynaud; C Louail; A Munnich; M Le Merrer
Journal:  Eur J Pediatr       Date:  1992-07       Impact factor: 3.183

8.  New domains of neural cell-adhesion molecule L1 implicated in X-linked hydrocephalus and MASA syndrome.

Authors:  M Jouet; A Moncla; J Paterson; C McKeown; A Fryer; N Carpenter; E Holmberg; C Wadelius; S Kenwrick
Journal:  Am J Hum Genet       Date:  1995-06       Impact factor: 11.025

9.  X linked complicated spastic paraplegia, MASA syndrome, and X linked hydrocephalus owing to congenital stenosis of the aqueduct of Sylvius: variable expression of the same mutation at Xq28.

Authors:  J P Fryns; A Spaepen; J J Cassiman; H van den Berghe
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

10.  X linked hydrocephalus: a survey of a 20 year period in Victoria, Australia.

Authors:  J Halliday; C W Chow; D Wallace; D M Danks
Journal:  J Med Genet       Date:  1986-02       Impact factor: 6.318
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.