Literature DB >> 24183230

A case of uncombable hair syndrome: light microscopy, trichoscopy and scanning electron microscopy.

Arzu Kiliç1, Deniz Oğuz, Alp Can, Handan Akil, Ozlem Gürbüz Köz.   

Abstract

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Year:  2013        PMID： 24183230

Source DB:  PubMed          Journal:  Acta Dermatovenerol Croat        ISSN： 1330-027X            Impact factor:   1.256


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  2 in total

1.  Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome.

Authors:  F Buket Ü Basmanav; Laura Cau; Aylar Tafazzoli; Marie-Claire Méchin; Sabrina Wolf; Maria Teresa Romano; Frederic Valentin; Henning Wiegmann; Anne Huchenq; Rima Kandil; Natalie Garcia Bartels; Arzu Kilic; Susannah George; Damian J Ralser; Stefan Bergner; David J P Ferguson; Ana-Maria Oprisoreanu; Maria Wehner; Holger Thiele; Janine Altmüller; Peter Nürnberg; Daniel Swan; Darren Houniet; Aline Büchner; Lisa Weibel; Nicola Wagner; Ramon Grimalt; Anette Bygum; Guy Serre; Ulrike Blume-Peytavi; Eli Sprecher; Susanne Schoch; Vinzenz Oji; Henning Hamm; Paul Farrant; Michel Simon; Regina C Betz
Journal:  Am J Hum Genet       Date:  2016-11-17       Impact factor: 11.025

2.  Assessment of the Genetic Spectrum of Uncombable Hair Syndrome in a Cohort of 107 Individuals.

Authors:  F Buket Basmanav; Nicole Cesarato; Sheetal Kumar; Oleg Borisov; Pavlos Kokordelis; Damian J Ralser; Maria Wehner; Daisy Axt; Xing Xiong; Holger Thiele; Vadim Dolgin; Yasmina Gossmann; Nadine Fricker; Malin Katharina Dewenter; Karsten Weller; Mohnish Suri; Herbert Reichenbach; Vinzenz Oji; Marie-Claude Addor; Karla Ramirez; Helen Stewart; Natalie Garcia Bartels; Lisa Weibel; Nicola Wagner; Susannah George; Arzu Kilic; Iliana Tantcheva-Poor; Alison Stewart; Nicola Dikow; Bettina Blaumeiser; Márta Medvecz; Ulrike Blume-Peytavi; Paul Farrant; Ramon Grimalt; Sara Bertok; Lisa Bradley; Marina Eskin-Schwartz; Ohad Samuel Birk; Anette Bygum; Michel Simon; Peter Krawitz; Christine Fischer; Henning Hamm; Günter Fritz; Regina C Betz
Journal:  JAMA Dermatol       Date:  2022-08-31       Impact factor: 11.816
  2 in total

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