Frank J - Search Results

1

Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement.

Math A, Frank J, Handisurya A, Poblete-Gutiérrez P, Slupetzky K, Födinger D, Winter D, Stingl G, Kirnbauer R. Math A, et al. Among authors: frank j. Eur J Dermatol. 2006 Sep-Oct;16(5):507-10. Eur J Dermatol. 2006. PMID: 17101470

2

Multiple unilateral skin tumors suggest type 1 segmental manifestation of familial syringoma.

Ceulen RP, Van Marion AM, Steijlen PM, Frank J, Poblete-Gutiérrez P. Ceulen RP, et al. Among authors: frank j. Eur J Dermatol. 2008 May-Jun;18(3):285-8. doi: 10.1684/ejd.2008.0389. Epub 2008 May 13. Eur J Dermatol. 2008. PMID: 18474456

3

Unilateral facial telangiectases suggest type 1 segmental manifestation of Osler-Rendu-Weber syndrome in an 11-year-old boy.

Poblete-Gutiérrez P, Rübben A, Merk HF, Frank J. Poblete-Gutiérrez P, et al. Among authors: frank j. Eur J Dermatol. 2003 Nov-Dec;13(6):537-9. Eur J Dermatol. 2003. PMID: 14721772

4

A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America.

Poblete-Gutiérrez P, Wolff C, Farias R, Frank J. Poblete-Gutiérrez P, et al. Among authors: frank j. Br J Dermatol. 2006 Feb;154(2):368-71. doi: 10.1111/j.1365-2133.2005.06978.x. Br J Dermatol. 2006. PMID: 16433813

5

The porphyrias: clinical presentation, diagnosis and treatment.

Poblete-Gutiérrez P, Wiederholt T, Merk HF, Frank J. Poblete-Gutiérrez P, et al. Among authors: frank j. Eur J Dermatol. 2006 May-Jun;16(3):230-40. Eur J Dermatol. 2006. PMID: 16709484 Review.

6

Valuable insights from molecular genetic studies in the porphyrias.

Frank J, Poblete-Gutiérrez P. Frank J, et al. Br J Dermatol. 2010 Mar;162(3):470-1. doi: 10.1111/j.1365-2133.2010.09635.x. Br J Dermatol. 2010. PMID: 20374603 No abstract available.

7

Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature.

Badeloe S, van Geel M, van Steensel MA, Bastida J, Ferrando J, Steijlen PM, Frank J, Poblete-Gutiérrez P. Badeloe S, et al. Among authors: frank j. Exp Dermatol. 2006 Sep;15(9):735-41. doi: 10.1111/j.1600-0625.2006.00470.x. Exp Dermatol. 2006. PMID: 16881969 Review.

8

[Identification of mutations in the protoporphyrin oxidase gene and its diagnostic implications in porphyria variegata in Chile].

Wolff C, Frank J, Poblete-Gutiérrez P. Wolff C, et al. Among authors: frank j. Rev Invest Clin. 2006 Jul-Aug;58(4):289-95. Rev Invest Clin. 2006. PMID: 17146940 Spanish.

9

Eruptive lichen planus in a child.

Ott H, Frank J, Poblete-Gutiérrez P. Ott H, et al. Among authors: frank j. Pediatr Dermatol. 2007 Nov-Dec;24(6):637-9. doi: 10.1111/j.1525-1470.2007.00553.x. Pediatr Dermatol. 2007. PMID: 18035986

10

A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma.

Méndez M, Poblete-Gutiérrez P, Morán-Jiménez MJ, Rodriguez ME, Garrido-Astray MC, Fontanellas A, Frank J, de Salamanca RE. Méndez M, et al. Among authors: frank j. Br J Dermatol. 2009 Jun;160(6):1330-4. doi: 10.1111/j.1365-2133.2009.09084.x. Epub 2009 Mar 9. Br J Dermatol. 2009. PMID: 19298273 No abstract available.

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