Literature DB >> 5139249

Ectodermal dysplasias.

N Freire-Maia.   

Abstract

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Year:  1971        PMID： 5139249     DOI： 10.1159/000152419

Source DB:  PubMed          Journal:  Hum Hered        ISSN： 0001-5652            Impact factor:   0.444


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  21 in total

1.  A syndrome of hypohidrotic ectodermal dysplasia with normal teeth, peculiar facies, pigmentary disturbances, psychomotor and growth retardation, bilateral nuclear cataract, and other signs.

Authors:  N Freire-Maia; V A Fortes; L C Pereira; J M Opitz; F A Marcalle; I J Cavalli
Journal:  J Med Genet       Date:  1975-09       Impact factor: 6.318

2.  PERP regulates enamel formation via effects on cell-cell adhesion and gene expression.

Authors:  Andrew H Jheon; Pasha Mostowfi; Malcolm L Snead; Rebecca A Ihrie; Eli Sone; Tiziano Pramparo; Laura D Attardi; Ophir D Klein
Journal:  J Cell Sci       Date:  2011-02-01       Impact factor: 5.285

3.  2008 International Conference on Ectodermal Dysplasias Classification: conference report.

Authors:  Carlos F Salinas; Ronald J Jorgenson; J Timothy Wright; John J DiGiovanna; Mary D Fete
Journal:  Am J Med Genet A       Date:  2009-09       Impact factor: 2.802

4.  Heterogeneity among ectodermal dysplasias.

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

Review 5.  Ectodermal dysplasias: Classification and organization by phenotype, genotype and molecular pathway.

Authors:  John Timothy Wright; Mary Fete; Holm Schneider; Madelaine Zinser; Maranke I Koster; Angus J Clarke; Smail Hadj-Rabia; Gianluca Tadini; Nina Pagnan; Atila F Visinoni; Birgitta Bergendal; Becky Abbott; Timothy Fete; Clark Stanford; Clayton Butcher; Rena N D'Souza; Virginia P Sybert; Maria I Morasso
Journal:  Am J Med Genet A       Date:  2019-01-31       Impact factor: 2.802

6.  Oculotrichodysplasia (OTD): a new probably autosomal recessive condition.

Authors:  L Cecatto-De-Lima; M Pinheiro; N Freire-Maia
Journal:  J Med Genet       Date:  1988-06       Impact factor: 6.318

7.  Recessive anonychia totalis and dominant aplasis (or hypoplasia) of upper lateral incisors in the same kindred.

Authors:  N Freire-Maia; M Pinheiro
Journal:  J Med Genet       Date:  1979-02       Impact factor: 6.318

8.  A clinical reappraisal of a newly recognized ectodermal dysplasia.

Authors:  I Cat; O Costa; N Freire-Maia
Journal:  Am J Hum Genet       Date:  1972-09       Impact factor: 11.025

9.  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

10.  A new syndrome in the group of euhidrotic ectodermal dysplasia. Pilodental dysplasia with refractive errors.

Authors:  Z Kopyść; K Barczyk; E Król
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
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