Literature DB >> 7201742

Carrier detection in Christ-Siemens-Touraine syndrome (X-linked hypohidrotic ectodermal dysplasia)

N Freire-Maia, M Pinheiro.   

Abstract

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Year:  1982        PMID： 7201742      PMCID： PMC1685360     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  16 in total

1.  Hypoplastic enamel, onycholysis, and hypohidrosis inherited as an autosomal dominant trait. A review of ectodermal dysplasia syndromes.

Authors:  C J Witkop; L J Brearley; W C Gentry
Journal:  Oral Surg Oral Med Oral Pathol       Date:  1975-01

2.  The community of human malformation syndromes that shares ectodermal dysplasia and deformities of the hands and feet.

Authors:  L Pinsky
Journal:  Teratology       Date:  1975-06

3.  Autosomal recessive hypohidrotic ectodermal dysplasia with subclinical manifestation in the heterozygote.

Authors:  E Passarge; E Fries
Journal:  Birth Defects Orig Artic Ser       Date:  1977

4.  Heterogeneity among ectodermal dysplasias.

Authors:  N Freire-Maia
Journal:  J Med Genet       Date:  1977-06       Impact factor: 6.318

5.  Ectodermal dysplasias.

Authors:  N Freire-Maia
Journal:  Hum Hered       Date:  1971       Impact factor: 0.444

6.  Hypohidrotic ectodermal dysplasia in females. A critical analysis and argument for genetic heterogeneity.

Authors:  R J Gorlin; T Old; V E Anderson
Journal:  Z Kinderheilkd       Date:  1970

7.  X-linked anhidrotic ectodermal dysplasia with some unusual features.

Authors:  W M Settineri; F M Salzano; M J Fretas
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

8.  Ectodermal dysplasias revisited.

Authors:  N Freire-Maia
Journal:  Acta Genet Med Gemellol (Roma)       Date:  1977

9.  Anhidrotic ectodermal dysplasia as autosomal recessive trait in an inbred kindred.

Authors:  E Passarge; C T Nuzum; W K Schubert
Journal:  Humangenetik       Date:  1966

10.  Christ-Siemens-Touraine syndrome--a clinical and genetic analysis of a large Brazilian kindred: I. Affected females.

Authors:  M Pinheiro; N Freire-Maia
Journal:  Am J Med Genet       Date:  1979
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  4 in total

1.  Orofacial features of hypohidrotic ectodermal dysplasia.

Authors:  Sibele Nascimento de Aquino; Lívia Maris Ribeiro Paranaíba; Mário Sérgio Oliveira Swerts; Daniella Reis Barbosa Martelli; Letízia Monteiro de Barros; Hercílio Martelli Júnior
Journal:  Head Neck Pathol       Date:  2012-03-16

2.  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

3.  Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications.

Authors:  B M Ferguson; N S Thomas; F Munoz; D Morgan; A Clarke; J Zonana
Journal:  J Med Genet       Date:  1998-02       Impact factor: 6.318

4.  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
  4 in total

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