Literature DB >> 20447483

Transmission electron microscopy for the diagnosis of epidermolysis bullosa.

Robin A J Eady1, Patricia J C Dopping-Hepenstal.   

Abstract

Transmission electron microscopy (TEM) has long been the best available method for the diagnosis of epidermolysis bullosa. Today, TEM is largely superseded by immunofluorescence microscopy mapping, which is generally more available. This article discusses its continuing role in confirming or refining results obtained by other methods, or in establishing the diagnosis where other techniques have been unsuitable or have failed. It covers key steps for optimizing tissue preparation, features of analysis, recently classified epidermolysis bullosa disorders, and strengths and weaknesses of TEM. Copyright 2010 Elsevier Inc. All rights reserved.

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Year:  2010        PMID: 20447483     DOI: 10.1016/j.det.2009.12.001

Source DB:  PubMed          Journal:  Dermatol Clin        ISSN: 0733-8635            Impact factor:   3.478


  3 in total

1.  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

2.  A COL7A1 Variant in a Litter of Neonatal Basset Hounds with Dystrophic Epidermolysis Bullosa.

Authors:  Teresa Maria Garcia; Sarah Kiener; Vidhya Jagannathan; Duncan S Russell; Tosso Leeb
Journal:  Genes (Basel)       Date:  2020-12-04       Impact factor: 4.096

3.  Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa.

Authors:  Li-Min Cui; Jian-Ye Jiang; Ning-Ning Hu; Hong-En Zou; Bao-Zhen Zhao; Cong-Ying Han; Kai Yang; Yi-Peng Wang; Huan-Xia Xing
Journal:  Mol Genet Genomic Med       Date:  2022-02-28       Impact factor: 2.473

  3 in total

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