Literature DB >> 2912882

Hypohidrotic ectodermal dysplasia. Clinical study of a family of 30 over three generations.

S Gilgenkrantz1, C Blanchet-Bardon, V Nazzaro, L Formiga, P Mujica, Y Alembik.   

Abstract

A family carrying the X-linked gene for hypohidrotic ectodermal dysplasia (hereditary ectodermal polydysplasia or Christ-Siemens-Touraine syndrome) over three generations was monitored for more than 15 years. Two prenatal diagnoses were carried out by fetoscopy on skin biopsies. Polymorphic probes were used in the segregation analysis of the Xq11-21 region carried out on 30 members of the family. Current screening possibilities for the carriers and prenatal diagnosis are discussed.

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Year:  1989        PMID： 2912882     DOI： 10.1007/BF00293886

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


  18 in total

1.  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

2.  A stain for sweat pores.

Authors:  L Juhlin; W B Shelley
Journal:  Nature       Date:  1967-01-28       Impact factor: 49.962

Review 3.  Hypohidrotic ectodermal dysplasia.

Authors:  A Clarke
Journal:  J Med Genet       Date:  1987-11       Impact factor: 6.318

4.  Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xp11-q12.

Authors:  S Kølvraa; T A Kruse; P K Jensen; K H Linde; S R Vestergaard; L Bolund
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

5.  Prenatal diagnosis of anhidrotic ectodermal dysplasia.

Authors:  M L Arnold; R Rauskolb; I Anton-Lamprecht; A Schinzel; W Schmid
Journal:  Prenat Diagn       Date:  1984 Mar-Apr       Impact factor: 3.050

6.  Manifestation of the lines of Blaschko in women heterozygous for X-linked hypohidrotic ectodermal dysplasia.

Authors:  R Happle; P J Frosch
Journal:  Clin Genet       Date:  1985-05       Impact factor: 4.438

7.  Hypodontia and sweat pore counts in detecting carriers of X-linked hypohidrotic ectodermal dysplasia.

Authors:  J A Sofaer
Journal:  Br Dent J       Date:  1981-11-17       Impact factor: 1.626

8.  Sweat pore counts in ectodermal dysplasias.

Authors:  J Kleinebrecht; K H Degenhardt; A Grubisic; E Günther; J Svejcar
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

9.  Prenatal diagnosis of X-linked choroideremia with mental retardation, associated with a cytologically detectable X-chromosome deletion.

Authors:  S V Hodgson; M E Robertson; C N Fear; J Goodship; S Malcolm; B Jay; M Bobrow; M E Pembrey
Journal:  Hum Genet       Date:  1987-03       Impact factor: 4.132

10.  Gene effect in carriers of anhidrotic ectodermal dysplasia.

Authors:  C B Kerr; R S Wells; K E Cooper
Journal:  J Med Genet       Date:  1966-09       Impact factor: 6.318
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  7 in total

1.  Mutation identification in a canine model of X-linked ectodermal dysplasia.

Authors:  Margret L Casal; Jennifer L Scheidt; James L Rhodes; Paula S Henthorn; Petra Werner
Journal:  Mamm Genome       Date:  2005-07       Impact factor: 2.957

Review 2.  Fetal tissue sampling--indications, techniques, complications, and experience with sampling of fetal skin, liver, and muscle.

Authors:  C Cadrin; M S Golbus
Journal:  West J Med       Date:  1993-09

3.  Frequent respiratory tract infections in the canine model of X-linked ectodermal dysplasia are not caused by an immune deficiency.

Authors:  Margret L Casal; Elizabeth A Mauldin; Sara Ryan; Jennifer L Scheidt; Jeffrey Kennedy; Peter F Moore; Peter J Felsburg
Journal:  Vet Immunol Immunopathol       Date:  2005-08-15       Impact factor: 2.046

4.  Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia.

Authors:  Margret L Casal; John R Lewis; Elizabeth A Mauldin; Aubry Tardivel; Karine Ingold; Manuel Favre; Fabrice Paradies; Stephane Demotz; Olivier Gaide; Pascal Schneider
Journal:  Am J Hum Genet       Date:  2007-09-18       Impact factor: 11.025

5.  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

6.  Professor Claudine Blanchet-Bardon: French dermatologist and leading authority on inherited ichthyoses.

Authors:  A Daunton; A R Shipman
Journal:  Int J Womens Dermatol       Date:  2016-11-29

7.  A de Novo EDA-Variant in a Litter of Shorthaired Standard Dachshunds with X-Linked Hypohidrotic Ectodermal Dysplasia.

Authors:  Danae Vasiliadis; Marion Hewicker-Trautwein; Daniela Klotz; Michael Fehr; Stefka Ruseva; Jennifer Arndt; Julia Metzger; Ottmar Distl
Journal:  G3 (Bethesda)       Date:  2019-01-09       Impact factor: 3.154
  7 in total

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