Literature DB >> 33459266

Self-improving dominant dystrophic epidermolysis bullosa: phenotypic variability associated with COL7A1 mutation p.Gly2037Glu.

Andrea Diociaiuti1, Cristina Guerriero2, Claudia Cesario3, Sabrina Rossi4, Roberta Rotunno1, Giovanna Zambruno5, May El Hachem1.   

Abstract

Entities:  

Year:  2020        PMID： 33459266      PMCID： PMC7880655          DOI： 10.1684/ejd.2020.3922

Source DB:  PubMed          Journal:  Eur J Dermatol        ISSN： 1167-1122            Impact factor:   3.328


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  8 in total

1.  Transient bullous dermolysis of the newborn in three generations.

Authors:  H Fassihi; V C Diba; V Wessagowit; P J C Dopping-Hepenstal; C A Jones; N P Burrows; J A McGrath
Journal:  Br J Dermatol       Date:  2005-11       Impact factor: 9.302

2.  COL7A1 mutation G2037E causes epidermal retention of type VII collagen.

Authors:  Daisuke Sawamura; Kazuko Sato-Matsumura; Satoko Shibata; Akari Tashiro; Masutaka Furue; Maki Goto; Kaori Sakai; Masashi Akiyama; Hideki Nakamura; Hiroshi Shimizu
Journal:  J Hum Genet       Date:  2006-03-24       Impact factor: 3.172

Review 3.  Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.

Authors:  C Has; J W Bauer; C Bodemer; M C Bolling; L Bruckner-Tuderman; A Diem; J-D Fine; A Heagerty; A Hovnanian; M P Marinkovich; A E Martinez; J A McGrath; C Moss; D F Murrell; F Palisson; A Schwieger-Briel; E Sprecher; K Tamai; J Uitto; D T Woodley; G Zambruno; J E Mellerio
Journal:  Br J Dermatol       Date:  2020-03-11       Impact factor: 9.302

4.  Intraepidermal Type VII Collagen by Immunofluorescence Mapping: A Specific Finding for Bullous Dermolysis of the Newborn.

Authors:  Gillian Heinecke; M Peter Marinkovich; Kerri E Rieger
Journal:  Pediatr Dermatol       Date:  2017-05       Impact factor: 1.588

5.  Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn.

Authors:  Andrea Diociaiuti; Daniele Castiglia; Simona Giancristoforo; Liliana Guerra; Vittoria Proto; Andrea Dotta; Renata Boldrini; Giovanna Zambruno; Maya El Hachem
Journal:  Acta Derm Venereol       Date:  2016-08-23       Impact factor: 4.437

6.  Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).

Authors:  M F Jonkman; G Moreno; F Rouan; A P Oranje; L Pulkkinen; J Uitto
Journal:  J Invest Dermatol       Date:  1999-05       Impact factor: 8.551

7.  Intracytoplasmic retention of type VII collagen and dominant dystrophic epidermolysis bullosa: reversal of defect following cessation of or marked improvement in disease activity.

Authors:  J D Fine; L B Johnson; D Cronce; J T Wright; I M Leigh; M McCollough; R A Briggaman
Journal:  J Invest Dermatol       Date:  1993-08       Impact factor: 8.551

8.  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
  8 in total

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