Literature DB >> 28532675

A Child with Epidermolytic Ichthyosis from a Parent with Epidermolytic Nevus: Risk Evaluation of Transmission from Mosaic to Germline.

Michihiro Kono1, Yasushi Suga2, Tomohiro Akashi3, Yasutomo Ito4, Takuya Takeichi5, Yoshinao Muro5, Masashi Akiyama6.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2017        PMID： 28532675     DOI： 10.1016/j.jid.2017.04.036

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


× No keyword cloud information.
  5 in total

1.  Life-long Skin Eruptions along Blaschko's Lines in a 27-year-old Woman: A Quiz.

Authors:  Takahiro Hamada; Kwesi Teye; Eri Katayama; Miyuki Kawamura; Hiroshi Koga; Norito Ishii; Takekuni Nakama
Journal:  Acta Derm Venereol       Date:  2021-12-07       Impact factor: 3.875

2.  A model for postzygotic mosaicisms quantifies the allele fraction drift, mutation rate, and contribution to de novo mutations.

Authors:  Adam Yongxin Ye; Yanmei Dou; Xiaoxu Yang; Sheng Wang; August Yue Huang; Liping Wei
Journal:  Genome Res       Date:  2018-06-06       Impact factor: 9.438

3.  Parental mosaicism in Marfan and Ehlers-Danlos syndromes and related disorders.

Authors:  Bertrand Chesneau; Aurélie Plancke; Guillaume Rolland; Nicolas Chassaing; Christine Coubes; Elise Brischoux-Boucher; Thomas Edouard; Yves Dulac; Marion Aubert-Mucca; Thierry Lavabre-Bertrand; Julie Plaisancié; Philippe Khau Van Kien
Journal:  Eur J Hum Genet       Date:  2021-01-07       Impact factor: 5.351

4.  Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus.

Authors:  Sabrina Caporali; Biagio Didona; Mauro Paradisi; Alessandro Mauriello; Elena Campione; Mattia Falconi; Federico Iacovelli; Marilena Minieri; Massimo Pieri; Sergio Bernardini; Alessandro Terrinoni
Journal:  Int J Mol Sci       Date:  2021-06-27       Impact factor: 5.923

5.  First Case of KRT2 Epidermolytic Nevus and Novel Clinical and Genetic Findings in 26 Italian Patients with Keratinopathic Ichthyoses.

Authors:  Andrea Diociaiuti; Daniele Castiglia; Marialuisa Corbeddu; Roberta Rotunno; Sabrina Rossi; Elisa Pisaneschi; Claudia Cesario; Angelo Giuseppe Condorelli; Giovanna Zambruno; May El Hachem
Journal:  Int J Mol Sci       Date:  2020-10-18       Impact factor: 5.923
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.