Literature DB >> 2883107

X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization.

A Clarke, M Sarfarazi, N S Thomas, K Roberts, P S Harper.   

Abstract

A linkage study of 24 families with hypohidrotic (anhidrotic) ectodermal dysplasia (HED) has been performed. The previously suggested linkage to DXYS1 has been confirmed, and linkage to probes DXS14 and DXS3 has been established. We suggest that the HED locus lies in the centromeric region between DXYS1 on the long arm and DXS14 on the short arm of the X chromosome, probably on proximal Xq.

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Year:  1987        PMID： 2883107     DOI： 10.1007/bf00284112

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


  7 in total

1.  Detection of specific sequences among DNA fragments separated by gel electrophoresis.

Authors:  E M Southern
Journal:  J Mol Biol       Date:  1975-11-05       Impact factor: 5.469

2.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants.

Authors:  L M Kunkel; K D Smith; S H Boyer; D S Borgaonkar; S S Wachtel; O J Miller; W R Breg; H W Jones; J M Rary
Journal:  Proc Natl Acad Sci U S A       Date:  1977-03       Impact factor: 11.205

3.  Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome).

Authors:  K D MacDermot; R M Winter; S Malcolm
Journal:  Hum Genet       Date:  1986-10       Impact factor: 4.132

4.  X-mapping in man: evidence against measurable linkage between anhidrotic ectodermal dysplasia and G6PD deficiency.

Authors:  G Filippi; A Rinaldi; G Crisponi; G L Daniels; M Siniscalco
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318

5.  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

6.  Proceedings: Report of the Committee on the Genetic Constitution of the X Chromosome.

Authors:  P S Gerald; J A Brown
Journal:  Cytogenet Cell Genet       Date:  1974

7.  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
  7 in total
  13 in total

1.  Alport syndrome: a genetic study of 31 families.

Authors:  R M'Rad; M Sanak; G Deschenes; J Zhou; C Bonaiti-Pellie; L Holvoet-Vermaut; S Heuertz; M C Gubler; M Broyer; J P Grunfeld
Journal:  Hum Genet       Date:  1992-12       Impact factor: 4.132

2.  X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female.

Authors:  J Limon; J Filipiuk; B Nedoszytko; K Mrózek; M Castrén; M Larramendy; J Roszkiewicz
Journal:  Hum Genet       Date:  1991-07       Impact factor: 4.132

3.  Abstracts of the meeting of the Clinical Genetics Society. 20 and 21 November 1987, London. (Joint meeting with the Skeletal Dysplasia Group)

Authors: 
Journal:  J Med Genet       Date:  1988-04       Impact factor: 6.318

4.  Clinical aspects of X-linked hypohidrotic ectodermal dysplasia.

Authors:  A Clarke; D I Phillips; R Brown; P S Harper
Journal:  Arch Dis Child       Date:  1987-10       Impact factor: 3.791

5.  X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis.

Authors:  J Zonana; A Clarke; M Sarfarazi; N S Thomas; K Roberts; K Marymee; P S Harper
Journal:  Am J Hum Genet       Date:  1988-07       Impact factor: 11.025

6.  Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation.

Authors:  J Zonana; S H Roberts; N S Thomas; P S Harper
Journal:  J Med Genet       Date:  1988-06       Impact factor: 6.318

7.  Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal marker.

Authors:  A Hanauer; Y Alembik; B Arveiler; L Formiga; S Gilgenkrantz; J L Mandel
Journal:  Hum Genet       Date:  1988-10       Impact factor: 4.132

8.  Possible genetic heterogeneity in X linked hypohidrotic ectodermal dysplasia.

Authors:  J Goodship; S Malcolm; A Clarke; M E Pembrey
Journal:  J Med Genet       Date:  1990-07       Impact factor: 6.318

9.  Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation. Clinical documentation of the AnLy cell line case.

Authors:  K D MacDermot; M Hultén
Journal:  Hum Genet       Date:  1990-05       Impact factor: 4.132

10.  Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with X-linked ectodermal dysplasia.

Authors:  Elizabeth A Mauldin; Olivier Gaide; Pascal Schneider; Margret L Casal
Journal:  Am J Med Genet A       Date:  2009-09       Impact factor: 2.802
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