Literature DB >> 1864610

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

J Limon1, J Filipiuk, B Nedoszytko, K Mrózek, M Castrén, M Larramendy, J Roszkiewicz.   

Abstract

A de novo translocation (X;1)(q13.1;p36.33) was found in a 2-year-old girl with typical clinical features of X-linked anhidrotic ectodermal dysplasia (EDA). The breakpoint at Xq13.1 is approximately the same as has been described in 2 other EDA females with X;autosome translocations.

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Year:  1991        PMID： 1864610     DOI： 10.1007/bf00200916

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


  14 in total

1.  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

2.  X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female.

Authors:  C Turleau; P Niaudet; M O Cabanis; G Plessis; D Cau; J de Grouchy
Journal:  Clin Genet       Date:  1989-06       Impact factor: 4.438

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.  Two human X-autosome translocations identified by autoradiography and fluorescence.

Authors:  M M Cohen; C C Lin; V Sybert; E J Orecchio
Journal:  Am J Hum Genet       Date:  1972-09       Impact factor: 11.025

5.  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

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

Authors:  A Clarke; M Sarfarazi; N S Thomas; K Roberts; P S Harper
Journal:  Hum Genet       Date:  1987-04       Impact factor: 4.132

7.  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

8.  Expression of X-linked hypohidrotic ectodermal dysplasia in six males and in their mothers.

Authors:  A L Söderholm; I Kaitila
Journal:  Clin Genet       Date:  1985-08       Impact factor: 4.438

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.  X-autosome translocations: cytogenetic characteristics and their consequences.

Authors:  M G Mattei; J F Mattei; S Ayme; F Giraud
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132
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  7 in total

1.  Autosomal recessive anhidrotic ectodermal dysplasia in a large Moroccan family.

Authors:  K Kabbaj; L Baala; H Chhoul; A Sefiani
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

Review 2.  Albert de la Chapelle-pro memoriam.

Authors:  Janusz Limon; Krzysztof Mrózek
Journal:  J Appl Genet       Date:  2021-03-15       Impact factor: 3.240

Review 3.  Mendelian cytogenetics. Chromosome rearrangements associated with mendelian disorders.

Authors:  N Tommerup
Journal:  J Med Genet       Date:  1993-09       Impact factor: 6.318

4.  High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus.

Authors:  J Zonana; M Jones; D Browne; M Litt; P Kramer; H W Becker; N Brockdorff; S Rastan; K P Davies; A Clarke
Journal:  Am J Hum Genet       Date:  1992-11       Impact factor: 11.025

5.  Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment.

Authors:  J Zonana; J Gault; K J Davies; M Jones; D Browne; M Litt; N Brockdorff; S Rastan; A Clarke; N S Thomas
Journal:  Am J Hum Genet       Date:  1993-01       Impact factor: 11.025

6.  Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed.

Authors:  A K Srivastava; O Montonen; U Saarialho-Kere; E Chen; P Baybayan; J Pispa; J Limon; D Schlessinger; J Kere
Journal:  Am J Hum Genet       Date:  1996-01       Impact factor: 11.025

7.  Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder.

Authors:  F Munoz; G Lestringant; V Sybert; M Frydman; A Alswaini; P M Frossard; R Jorgenson; J Zonana
Journal:  Am J Hum Genet       Date:  1997-07       Impact factor: 11.025
  7 in total

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