Literature DB >> 28830826

Multigene Next-Generation Sequencing Panel Identifies Pathogenic Variants in Patients with Unknown Subtype of Epidermolysis Bullosa: Subclassification with Prognostic Implications.

Hassan Vahidnezhad1, Leila Youssefian2, Amir Hossein Saeidian3, Andrew Touati4, Soheila Sotoudeh5, Maryam Abiri6, Mohammadreza Barzegar7, Nessa Aghazadeh8, Hamidreza Mahmoudi8, Sara Norouz-Zadeh9, Mohammad Hamid10, Mahla Zahabiyon3, Hamideh Bagherian11, Sirous Zeinali12, Paolo Fortina13, Jouni Uitto14.   

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Year:  2017        PMID: 28830826     DOI: 10.1016/j.jid.2017.07.830

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


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  9 in total

1.  First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate.

Authors:  Yao Wang; Dong Yu; Wei Wei; Hao Zheng; Ming-Hua Liu; Long Ma; Li-Na Qin; Neng-Zhuang Wang; Jia-Xi Li; Jin-Jiang Wang; Xin-Ling Bi; Hong-Li Yan
Journal:  BMC Med Genomics       Date:  2022-06-18       Impact factor: 3.622

2.  Genetic heterogeneity of heritable ectopic mineralization disorders in a large international cohort.

Authors:  Amir Hossein Saeidian; Leila Youssefian; Jianhe Huang; Andrew Touati; Hassan Vahidnezhad; Luke Kowal; Matthew Caffet; Tamara Wurst; Jagmohan Singh; Adam E Snook; Ellen Ryu; Paolo Fortina; Sharon F Terry; Jonathan G Schoenecker; Jouni Uitto; Qiaoli Li
Journal:  Genet Med       Date:  2021-11-30       Impact factor: 8.864

Review 3.  Advances in understanding the molecular basis of skin fragility.

Authors:  Cristina Has
Journal:  F1000Res       Date:  2018-03-06

4.  Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.

Authors:  C Has; L Liu; M C Bolling; A V Charlesworth; M El Hachem; M J Escámez; I Fuentes; S Büchel; R Hiremagalore; G Pohla-Gubo; P C van den Akker; K Wertheim-Tysarowska; G Zambruno
Journal:  Br J Dermatol       Date:  2019-08-09       Impact factor: 9.302

5.  Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility.

Authors:  Hassan Vahidnezhad; Leila Youssefian; Masoomeh Faghankhani; Nikoo Mozafari; Amir Hossein Saeidian; Fatemeh Niaziorimi; Fahimeh Abdollahimajd; Soheila Sotoudeh; Fateme Rajabi; Liaosadat Mirsafaei; Zahra Alizadeh Sani; Lu Liu; Alyson Guy; Sirous Zeinali; Ariana Kariminejad; Reginald T Ho; John A McGrath; Jouni Uitto
Journal:  Sci Rep       Date:  2020-12-10       Impact factor: 4.379

6.  Gene panel for the diagnosis of epidermolysis bullosa: proposal for a viable and efficient approach.

Authors:  Luiza Monteavaro Mariath; Ana Elisa Kiszewski; Jeanine Aparecida Frantz; Marina Siebert; Ursula Matte; Lavínia Schuler-Faccini
Journal:  An Bras Dermatol       Date:  2021-02-02       Impact factor: 1.896

7.  Epidermolysis Bullosa With Congenital Absence of Skin: Congenital Corneal Cloudiness and Esophagogastric Obstruction Including Extended Genotypic Spectrum of PLEC, LAMC2, ITGB4 and COL7A1.

Authors:  Pharuhad Pongmee; Sanchawan Wittayakornrerk; Ramrada Lekwuttikarn; Sasikarn Pakdeeto; Piangor Watcharakuldilok; Chatchay Prempunpong; Thipwimol Tim-Aroon; Chawintee Puttanapitak; Piyawan Wattanasoontornsakul; Thitiporn Junhasavasdikul; Parith Wongkittichote; Saisuda Noojarern; Duangrurdee Wattanasirichaigoon
Journal:  Front Genet       Date:  2022-04-01       Impact factor: 4.772

8.  Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.

Authors:  Yueqian Yu; Zhenzhen Wang; Zihao Mi; Lele Sun; Xi'an Fu; Gongqi Yu; Zheng Pang; Hong Liu; Furen Zhang
Journal:  Acta Derm Venereol       Date:  2021-07-15       Impact factor: 3.875

9.  Coronavirus disease 2019 and epidermolysis bullosa: Report of three cases.

Authors:  Fahimeh Abdollahimajd; Leila Youssefian; Mohammad Reza Pourani; Hassan Vahidnezhad; Jouni Uitto
Journal:  Dermatol Ther       Date:  2020-09-05       Impact factor: 3.858

  9 in total

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