Literature DB >> 15816848

Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.

Vesarat Wessagowit, Soo-Chan Kim, Se Woong Oh, John A McGrath.   

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Year:  2005        PMID： 15816848     DOI： 10.1111/j.0022-202X.2005.23650.x

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


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  6 in total

1.  Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.

Authors:  Roslyn Varki; Sara Sadowski; Jouni Uitto; Ellen Pfendner
Journal:  J Med Genet       Date:  2006-09-13       Impact factor: 6.318

2.  Bone marrow transplant with post-transplant cyclophosphamide for recessive dystrophic epidermolysis bullosa expands the related donor pool and permits tolerance of nonhaematopoietic cellular grafts.

Authors:  C L Ebens; J A McGrath; K Tamai; A Hovnanian; J E Wagner; M J Riddle; D R Keene; T E DeFor; R Tryon; M Chen; D T Woodley; K Hook; J Tolar
Journal:  Br J Dermatol       Date:  2019-06-28       Impact factor: 9.302

3.  Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.

Authors:  John E Wagner; Akemi Ishida-Yamamoto; John A McGrath; Maria Hordinsky; Douglas R Keene; David T Woodley; Mei Chen; Megan J Riddle; Mark J Osborn; Troy Lund; Michelle Dolan; Bruce R Blazar; Jakub Tolar
Journal:  N Engl J Med       Date:  2010-08-12       Impact factor: 91.245

Review 4.  Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases.

Authors:  Vesarat Wessagowit; Vijay K Nalla; Peter K Rogan; John A McGrath
Journal:  J Dermatol Sci       Date:  2005-07-27       Impact factor: 4.563

Review 5.  Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.

Authors:  Natasha Caminsky; Eliseos J Mucaki; Peter K Rogan
Journal:  F1000Res       Date:  2014-11-18

6.  Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing.

Authors:  Syed Ashraf Uddin; Nicole Cesarato; Aytaj Humbatova; Axel Schmidt; Fazal urRehman; Muhammad Naeem; Abdul Samad Tareen; Sabrina Wolf; Muhammad Anwar Panezai; Holger Thiele; Abdul Wali; Regina Fölster-Holst; Sulman Basit; Muhammad Ayub; Regina C Betz
Journal:  Acta Derm Venereol       Date:  2020-09-30       Impact factor: 3.875
  6 in total

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