Literature DB >> 3469136

Localization of the gene for a syndrome of X-linked skeletal dysplasia and mental retardation to Xq27-qter.

S R Dlouhy, J C Christian, J L Haines, P M Conneally, M E Hodes.   

Abstract

An Indiana family segregating a syndrome of X-linked mental retardation and skeletal anomalies was tested for linkage of the mutant gene to X-chromosome molecular markers. Lod scores of 3.27 and 3.06 (theta = 0) for the molecular probes St14-1 (DXS52) and Dx13 (DXS15), respectively, indicate that the disease gene is located in the terminal portion of Xq.

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Year:  1987        PMID： 3469136     DOI： 10.1007/BF00591074

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  14 in total

1.  Congenital familial testicular deficiency.

Authors:  A R SOHVAL; L J SOFFER
Journal:  Am J Med       Date:  1953-03       Impact factor: 4.965

2.  Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome).

Authors:  K E Davies; M G Mattei; J F Mattei; H Veenema; S McGlade; K Harper; N Tommerup; K B Nielsen; M Mikkelsen; P Beighton
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Studies of malformation syndromes of man 33: the FG syndrome. An X-linked recessive syndrome of multiple congenital anomalies and mental retardation.

Authors:  J M Opitz; E G Kaveggia
Journal:  Z Kinderheilkd       Date:  1974-04-08

4.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

5.  A familial syndrome of short stature associated with facial dysplasia and genital anomalies.

Authors:  D Aarskog
Journal:  J Pediatr       Date:  1970-11       Impact factor: 4.406

6.  X-linked skeletal dysplasia with mental retardation.

Authors:  J C Christian; E A DeMyer Franken; J S Huff; S Khairi; T Reed
Journal:  Clin Genet       Date:  1977-02       Impact factor: 4.438

7.  Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3.

Authors:  L M Mulligan; M A Phillips; C J Forster-Gibson; J Beckett; M W Partington; N E Simpson; J J Holden; B N White
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025

8.  Assignment of the gene for dyskeratosis congenita to Xq28.

Authors:  J M Connor; D Gatherer; F C Gray; L A Pirrit; N A Affara
Journal:  Hum Genet       Date:  1986-04       Impact factor: 4.132

9.  Strategies for multilocus linkage analysis in humans.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Proc Natl Acad Sci U S A       Date:  1984-06       Impact factor: 11.205

10.  The FG syndrome: further characterization, report of a third family, and of a sporadic case.

Authors:  V M Riccardi; E Hässler; M S Lubinsky
Journal:  Am J Med Genet       Date:  1977
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  6 in total

1.  Linkage to Xq28 in a family with nonspecific X-linked mental retardation.

Authors:  A M Nordström; M Penttinen; H von Koskull
Journal:  Hum Genet       Date:  1992-11       Impact factor: 4.132

2.  A genome-wide linkage scan for bone mineral density in an extended sample: evidence for linkage on 11q23 and Xq27.

Authors:  H Shen; Y-Y Zhang; J-R Long; F-H Xu; Y-Z Liu; P Xiao; L-J Zhao; D-H Xiong; Y-J Liu; V Dvornyk; S Rocha-Sanchez; P-Y Liu; J-L Li; T Conway; K M Davies; R R Recker; H-W Deng
Journal:  J Med Genet       Date:  2004-10       Impact factor: 6.318

3.  A whole genome linkage scan for QTLs underlying peak bone mineral density.

Authors:  F Zhang; P Xiao; F Yang; H Shen; D-H Xiong; H-Y Deng; C J Papasian; B M Drees; J J Hamilton; R R Recker; H-W Deng
Journal:  Osteoporos Int       Date:  2007-09-19       Impact factor: 4.507

Review 4.  X linked mental retardation.

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

5.  Localisation of the MRX3 gene for non-specific X linked mental retardation.

Authors:  A Gedeon; B Kerr; J Mulley; G Turner
Journal:  J Med Genet       Date:  1991-06       Impact factor: 6.318

6.  A genome wide linkage scan of metacarpal size and geometry in the Framingham Study.

Authors:  David Karasik; Nicole A Shimabuku; Yanhua Zhou; Yuqing Zhang; L Adrienne Cupples; Douglas P Kiel; Serkalem Demissie
Journal:  Am J Hum Biol       Date:  2008 Nov-Dec       Impact factor: 1.937
  6 in total

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