Literature DB >> 7286985

Christ-Siemens-Touraine syndrome. Investigations on two large Brazilian kindreds with a new estimate of the manifestation rate among carriers.

M Pinheiro, M T Ideriha, E A Chautard-Freire-Maia, N Freire-Maia, S L Primo-Parmo.   

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Year:  1981        PMID： 7286985     DOI： 10.1007/BF00281698

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


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  10 in total

1.  [Ectodermal dysplasia of the anhidrotic type; 5 new cases].

Authors:  F PERABO; J A VELASCO; A PRADER
Journal:  Helv Paediatr Acta       Date:  1956-12

2.  A stain for sweat pores.

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

3.  X chromosome inactivation in X-linked hypohidrotic ectodermal dysplasia.

Authors:  E Passarge; E Fries
Journal:  Nat New Biol       Date:  1973-09-12

4.  Hypohidrotic (or anhidrotic) ectodermal dysplasia--an appraisal of diagnostic methods.

Authors:  J Verbov
Journal:  Br J Dermatol       Date:  1970-09       Impact factor: 9.302

5.  Christ-Siemens-Touraine syndrome--a clinical and genetic analysis of a large Brazilian kindred: II. Affected males.

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

6.  Christ-Siemens-Touraine syndrome--a clinical and genetic analysis of a large Brazilian kindred: III. Carrier detection.

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

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.  Further evidence against linkage between Christ-Siemens-Touraine (CST) and XG loci.

Authors:  E A Chautard-Freire-Maia; S L Primo-Parmo; M Pinheiro; N Freire-Maia
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

9.  So-called "anhidrotic ectodermal dysplasia".

Authors:  N Freire-Maia; M Pinheiro
Journal:  Int J Dermatol       Date:  1980-10       Impact factor: 2.736

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
  10 in total
  9 in total

Review 1.  Hypohidrotic ectodermal dysplasia.

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

2.  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

3.  Further evidence against linkage between Christ-Siemens-Touraine (CST) and XG loci.

Authors:  E A Chautard-Freire-Maia; S L Primo-Parmo; M Pinheiro; N Freire-Maia
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

4.  Ectodermal dysplasia in females.

Authors:  N Freire-Maia; M Pinheiro
Journal:  J Med Genet       Date:  1982-08       Impact factor: 6.318

5.  Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia.

Authors:  A Clarke; J Burn
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

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

Authors:  N Freire-Maia; M Pinheiro
Journal:  Am J Hum Genet       Date:  1982-07       Impact factor: 11.025

7.  Madarosis: a marker of many maladies.

Authors:  Annapurna Kumar; Kaliaperumal Karthikeyan
Journal:  Int J Trichology       Date:  2012-01

8.  Natural history of X-linked hypohidrotic ectodermal dysplasia: a 5-year follow-up study.

Authors:  Sigrun Wohlfart; Ralph Meiller; Johanna Hammersen; Jung Park; Johannes Menzel-Severing; Volker O Melichar; Kenneth Huttner; Ramsey Johnson; Florence Porte; Holm Schneider
Journal:  Orphanet J Rare Dis       Date:  2020-01-10       Impact factor: 4.123

9.  Deleterious Variants in WNT10A, EDAR, and EDA Causing Isolated and Syndromic Tooth Agenesis: A Structural Perspective from Molecular Dynamics Simulations.

Authors:  Asia Parveen; Sher Alam Khan; Muhammad Usman Mirza; Hina Bashir; Fatima Arshad; Maria Iqbal; Waseem Ahmad; Ahsan Wahab; Amal Fiaz; Sidra Naz; Fareeha Ashraf; Tayyaba Mobeen; Salman Aziz; Syed Shoaib Ahmed; Noor Muhammad; Nehal F Hassib; Mostafa I Mostafa; Nagwa E Gaboon; Roquyya Gul; Saadullah Khan; Matheus Froeyen; Muhammad Shoaib; Naveed Wasif
Journal:  Int J Mol Sci       Date:  2019-10-24       Impact factor: 5.923
  9 in total

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