Literature DB >> 32619014

Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz.

Karola Maria Stieler1, Theodosia Bartzela, Christian Finke, Ulrike Blume-Peytavi, Judith Fischer.   

Abstract

Entities:  

Mesh：

Year:  2020        PMID： 32619014      PMCID： PMC9199920          DOI： 10.2340/00015555-3592

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   3.875


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  12 in total

1.  Two families confirm Schöpf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum.

Authors:  M Castori; D Castiglia; F Brancati; M Foglio; S Heath; G Floriddia; S Madonna; J Fischer; G Zambruno
Journal:  Clin Genet       Date:  2011-01       Impact factor: 4.438

2.  WNT10A mutations also associated with agenesis of the maxillary permanent canines, a separate entity.

Authors:  P Kantaputra; M Kaewgahya; W Kantaputra
Journal:  Am J Med Genet A       Date:  2013-12-05       Impact factor: 2.802

3.  [WNT 10A-mutations as explanation for tooth agenesis].

Authors:  H Backaert; C E L Carels
Journal:  Ned Tijdschr Tandheelkd       Date:  2014-11

4.  Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome.

Authors:  C Tziotzios; G Petrof; L Liu; A Verma; E K Wedgeworth; J E Mellerio; J A McGrath
Journal:  Br J Dermatol       Date:  2014-10-15       Impact factor: 9.302

5.  Short anagen syndrome.

Authors:  Federica Giacomini; Michela Starace; Antonella Tosti
Journal:  Pediatr Dermatol       Date:  2011 Mar-Apr       Impact factor: 1.588

6.  Sporadic trichodental dysplasia with microcephaly and mental retardation.

Authors:  A Giannotti; M C Digilio; G Albertini; R Mingarelli; B Dallapiccola
Journal:  Clin Dysmorphol       Date:  1995-10       Impact factor: 0.816

Review 7.  Short anagen syndrome: Case series and literature review.

Authors:  Kate E Oberlin; Austin J Maddy; María Abril Martínez-Velasco; Norma Elizabeth Vázquez-Herrera; Lawrence A Schachner; Antonella Tosti
Journal:  Pediatr Dermatol       Date:  2018-03-26       Impact factor: 1.588

8.  WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.

Authors:  Axel Bohring; Thomas Stamm; Christiane Spaich; Claudia Haase; Kerstin Spree; Ute Hehr; Mandy Hoffmann; Susanne Ledig; Saadettin Sel; Peter Wieacker; Albrecht Röpke
Journal:  Am J Hum Genet       Date:  2009-06-25       Impact factor: 11.025

9.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

10.  Taurodontism, variations in tooth number, and misshapened crowns in Wnt10a null mice and human kindreds.

Authors:  Jie Yang; Shih-Kai Wang; Murim Choi; Bryan M Reid; Yuanyuan Hu; Yuan-Ling Lee; Curtis R Herzog; Hera Kim-Berman; Moses Lee; Paul J Benke; K C Kent Lloyd; James P Simmer; Jan C-C Hu
Journal:  Mol Genet Genomic Med       Date:  2014-09-15       Impact factor: 2.183
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