Literature DB >> 1552562

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

C Schrander-Stumpel, J Fryns, J J Cassiman, E Legius, A Spaepen, C J Höweler.   

Abstract

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Year:  1992        PMID： 1552562      PMCID： PMC1015907          DOI： 10.1136/jmg.29.3.215-a

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  12 in total

1.  The syndrome of sex-linked hydrocephalus.

Authors:  J H EDWARDS
Journal:  Arch Dis Child       Date:  1961-10       Impact factor: 3.791

2.  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

3.  The MASA syndrome: a new heritable mental retardation syndrome.

Authors:  J W Bianchine; R C Lewis
Journal:  Clin Genet       Date:  1974       Impact factor: 4.438

4.  Mental retardation-clasped thumb syndrome.

Authors:  G W Yeatman
Journal:  Am J Med Genet       Date:  1984-01

5.  MASA syndrome: new clinical features and linkage analysis using DNA probes.

Authors:  C Schrander-Stumpel; E Legius; J P Fryns; J J Cassiman
Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318

6.  X-linked recessive aqueductal stenosis without macrocephaly.

Authors:  R I Kelley; M T Mennuti; W F Hickey; E H Zackai
Journal:  Clin Genet       Date:  1988-05       Impact factor: 4.438

7.  X-linked hydrocephalus.

Authors:  P J Willems; O F Brouwer; I Dijkstra; J Wilmink
Journal:  Am J Med Genet       Date:  1987-08

8.  Linkage studies of X-linked recessive spastic paraplegia using DNA probes.

Authors:  S Kenwrick; V Ionasescu; G Ionasescu; C Searby; A King; M Dubowitz; K E Davies
Journal:  Hum Genet       Date:  1986-07       Impact factor: 4.132

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
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  1 in total

1.  Mutations in L1-CAM in two families with X linked complicated spastic paraplegia, MASA syndrome, and HSAS.

Authors:  J C Ruiz; H Cuppens; E Legius; J P Fryns; T Glover; P Marynen; J J Cassiman
Journal:  J Med Genet       Date:  1995-07       Impact factor: 6.318
  1 in total

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