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Items: 1 to 20 of 109

1.

[Inherited skin diseases - a review of selected genodermatoses].

Wertheim-Tysarowska K, Gos M, Niepokój K, Kowalewski C.

Med Wieku Rozwoj. 2012 Jul-Sep;16(3):183-95. Review. Polish.

2.

Mutation analysis and molecular genetics of epidermolysis bullosa.

Pulkkinen L, Uitto J.

Matrix Biol. 1999 Feb;18(1):29-42. Review.

PMID:
10367729
3.

Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa.

Tamai K, Ishida-Yamamoto A, Matsuo S, Iizuka H, Hashimoto I, Christiano AM, Uitto J, McGrath JA.

Lab Invest. 1997 Feb;76(2):209-17.

PMID:
9042157
4.

The molecular basis for inherited bullous diseases.

Korge BP, Krieg T.

J Mol Med (Berl). 1996 Feb;74(2):59-70. Review.

PMID:
8820401
5.

Inherited epidermolysis bullosa: new diagnostic criteria and classification.

Intong LR, Murrell DF.

Clin Dermatol. 2012 Jan-Feb;30(1):70-7. doi: 10.1016/j.clindermatol.2011.03.012. Review.

PMID:
22137229
6.

Selected genodermatoses.

Watson W.

Pediatr Clin North Am. 1978 May;25(2):263-84. Review. No abstract available.

PMID:
97616
7.

[Epidermolysis bullosa].

García Pérez A.

An R Acad Nac Med (Madr). 1999;116(2):387-413; discussion 413-5. Review. Spanish.

PMID:
10682398
8.

Common genodermatoses.

Kumar S, Sehgal VN, Sharma RC.

Int J Dermatol. 1996 Oct;35(10):685-94. Review. No abstract available.

PMID:
8891813
9.

The genodermatoses and their significance in pediatric dermatology.

Alper JC.

Dermatol Clin. 1986 Jan;4(1):45-54. Review.

PMID:
2941201
10.
11.

Desmosomal genodermatoses.

Petrof G, Mellerio JE, McGrath JA.

Br J Dermatol. 2012 Jan;166(1):36-45. doi: 10.1111/j.1365-2133.2011.10640.x. Review.

PMID:
21929534
12.

Neurofibromin in neurofibromatosis type 1 - mutations in NF1gene as a cause of disease.

Abramowicz A, Gos M.

Dev Period Med. 2014 Jul-Sep;18(3):297-306. Review.

13.

Prenatal diagnosis of genetic skin disease using fetal skin biopsy samples.

Holbrook KA, Smith LT, Elias S.

Arch Dermatol. 1993 Nov;129(11):1437-54. Review.

PMID:
8239702
14.

Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology.

Eady RA, Dunnill MG.

Arch Dermatol Res. 1994;287(1):2-9. Review.

PMID:
7537032
15.

Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

García M, Santiago JL, Terrón A, Hernández-Martín A, Vicente A, Fortuny C, De Lucas R, López JC, Cuadrado-Corrales N, Holguín A, Illera N, Duarte B, Sánchez-Jimeno C, Llames S, García E, Ayuso C, Martínez-Santamaría L, Castiglia D, De Luca N, Torrelo A, Mechan D, Baty D, Zambruno G, Escámez MJ, Del Río M.

Br J Dermatol. 2011 Sep;165(3):683-92. doi: 10.1111/j.1365-2133.2011.10428.x.

PMID:
21623745
16.
17.

Clinical heterogeneity in recessive epidermolysis bullosa due to mutations in the keratin 14 gene, KRT14.

Yiasemides E, Trisnowati N, Su J, Dang N, Klingberg S, Marr P, Melbourne W, Tran K, Chow CW, Orchard D, Varigos G, Murrell DF.

Clin Exp Dermatol. 2008 Nov;33(6):689-97. doi: 10.1111/j.1365-2230.2008.02858.x. Epub 2008 Aug 16. Review.

PMID:
18713255
18.

Genodermatoses.

Burgdorf WH, Alper JC, Goldsmith LA.

J Am Acad Dermatol. 1987 May;16(5 Pt 1):1045-9. No abstract available.

PMID:
3294939
19.

An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.

Yang CS, Lu Y, Farhi A, Nelson-Williams C, Kashgarian M, Glusac EJ, Lifton RP, Antaya RJ, Choate KA.

Pediatr Dermatol. 2012 Nov-Dec;29(6):725-31. doi: 10.1111/j.1525-1470.2012.01757.x. Epub 2012 Apr 20.

20.

Progress in epidermolysis bullosa: from eponyms to molecular genetic classification.

Uitto J, Richard G.

Clin Dermatol. 2005 Jan-Feb;23(1):33-40. Review.

PMID:
15708287
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