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Items: 1 to 20 of 208

1.

Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene.

Koshida S, Tsukamura A, Yanagi T, Nakahara S, Takeuchi Y, Kato T, Tanaka T, Nakano H, Shimizu H.

Pediatr Int. 2013 Apr;55(2):234-7. doi: 10.1111/j.1442-200X.2012.03638.x.

PMID:
23679163
2.

Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants.

Dang N, Klingberg S, Marr P, Murrell DF.

J Dermatol Sci. 2007 Jun;46(3):169-78. Epub 2007 Apr 10. Review.

PMID:
17425959
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Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.

Gardella R, Castiglia D, Posteraro P, Bernardini S, Zoppi N, Paradisi M, Tadini G, Barlati S, McGrath JA, Zambruno G, Colombi M.

J Invest Dermatol. 2002 Dec;119(6):1456-62.

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Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.

Dang N, Murrell DF.

Exp Dermatol. 2008 Jul;17(7):553-68. doi: 10.1111/j.1600-0625.2008.00723.x. Review.

PMID:
18558993
10.

Genotype-phenotype correlations in six Japanese patients with recessive dystrophic epidermolysis bullosa with the recurrent p.Glu2857X mutation.

Saito M, Masunaga T, Teraki Y, Takamori K, Ishiko A.

J Dermatol Sci. 2008 Oct;52(1):13-20. doi: 10.1016/j.jdermsci.2008.03.005. Epub 2008 Apr 25.

PMID:
18440202
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14.

Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.

Sawamura D, Goto M, Yasukawa K, Sato-Matsumura K, Nakamura H, Ito K, Nakamura H, Tomita Y, Shimizu H.

J Hum Genet. 2005;50(10):543-6. Epub 2005 Sep 28. Erratum in: J Hum Genet. 2006;51(9):839.

PMID:
16189623
15.

Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.

Ouragini H, Cherif F, Kassar S, Floriddia G, Pascucci M, Daoud W, Osman-Dhahri AB, Boubaker S, Castiglia D, Abdelhak S.

J Dermatol Sci. 2009 May;54(2):114-20. doi: 10.1016/j.jdermsci.2009.01.006. Epub 2009 Mar 3.

PMID:
19261445
16.

Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.

Fassihi H, Lu L, Wessagowit V, Ozoemena LC, Jones CA, Dopping-Hepenstal PJ, Foster L, Atherton DJ, Mellerio JE, McGrath JA.

J Invest Dermatol. 2006 Sep;126(9):2039-43. Epub 2006 May 18.

17.

Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.

van den Akker PC, van Essen AJ, Kraak MM, Meijer R, Nijenhuis M, Meijer G, Hofstra RM, Pas HH, Scheffer H, Jonkman MF.

J Dermatol Sci. 2009 Oct;56(1):9-18. doi: 10.1016/j.jdermsci.2009.06.015. Epub 2009 Aug 8.

PMID:
19665875
18.

Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.

Almaani N, Liu L, Dopping-Hepenstal PJ, Lai-Cheong JE, Wong A, Nanda A, Moss C, Martinéz AE, Mellerio JE, McGrath JA.

Acta Derm Venereol. 2011 May;91(3):262-6. doi: 10.2340/00015555-1053.

19.

Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia.

Ben Brick AS, Laroussi N, Mesrati H, Kefi R, Bchetnia M, Lasram K, Ben Halim N, Romdhane L, Ouragini H, Marrakchi S, Boubaker MS, Meddeb Cherif M, Castiglia D, Hovnanian A, Abdelhak S, Turki H.

Arch Dermatol Res. 2014 May;306(4):405-11. doi: 10.1007/s00403-013-1421-y. Epub 2013 Oct 30.

PMID:
24170138
20.

Identification of novel type VII collagen gene mutations resulting in severe recessive dystrophic epidermolysis bullosa.

Massé M, Cserhalmi-Friedman PB, Falanga V, Celebi JT, Martinez-Mir A, Christiano AM.

Clin Exp Dermatol. 2005 May;30(3):289-93.

PMID:
15807692

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