Poblete-Gutiérrez P - Search Results

1

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. 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.

2

Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.

Méndez M, Poblete-Gutiérrez P, García-Bravo M, Wiederholt T, Morán-Jiménez MJ, Merk HF, Garrido-Astray MC, Frank J, Fontanellas A, Enríquez de Salamanca R. Méndez M, et al. Br J Dermatol. 2007 Sep;157(3):501-7. doi: 10.1111/j.1365-2133.2007.08064.x. Epub 2007 Jul 11. Br J Dermatol. 2007. PMID: 17627795

3

Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria.

Méndez M, Morán-Jiménez MJ, Gomez-Abecia S, García-Bravo M, Garrido-Astray MC, Fontanellas A, Poblete-Gutiérrez P, Frank J, Enriquez de Salamanca R. Méndez M, et al. Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):55-63. Cell Mol Biol (Noisy-le-grand). 2009. PMID: 19656452

4

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.

5

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. Br J Dermatol. 2006 Feb;154(2):368-71. doi: 10.1111/j.1365-2133.2005.06978.x. Br J Dermatol. 2006. PMID: 16433813

6

Delayed diagnosis and diminished quality of life in erythropoietic protoporphyria: results of a cross-sectional study in Sweden.

Frank J, Poblete-Gutiérrez P. Frank J, et al. J Intern Med. 2011 Mar;269(3):270-4. doi: 10.1111/j.1365-2796.2010.02283.x. Epub 2010 Nov 14. J Intern Med. 2011. PMID: 21332583 Free article. No abstract available.

7

Photosensitivity in the elderly-think of late-onset protoporphyria.

Frank J, Poblete-Gutiérrez P, Neumann NJ. Frank J, et al. Among authors: poblete gutierrez p. J Invest Dermatol. 2013 Jun;133(6):1467-71. doi: 10.1038/jid.2013.80. J Invest Dermatol. 2013. PMID: 23673504 Free article.

8

The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene.

Poblete-Gutiérrez P, Mendez M, Wiederholt T, Merk HF, Fontanellas A, Wolff C, Frank J. Poblete-Gutiérrez P, et al. Exp Dermatol. 2004 Jun;13(6):372-9. doi: 10.1111/j.0906-6705.2004.00163.x. Exp Dermatol. 2004. PMID: 15186324

9

Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer?

Badeloe S, van Spaendonck-Zwarts KY, van Steensel MA, van Marion AM, van Essen AJ, Jonkman MF, Steijlen PM, Poblete-Gutiérrez P, van Geel M, Frank J. Badeloe S, et al. Br J Dermatol. 2009 Mar;160(3):707-9. doi: 10.1111/j.1365-2133.2008.09000.x. Epub 2009 Jan 10. Br J Dermatol. 2009. PMID: 19183174 No abstract available.

10

Smoking but not homozygosity for CYP1A2 g-163A allelic variant leads to earlier disease onset in patients with sporadic porphyria cutanea tarda.

Fontanellas A, Martínez-Fresno M, Garrido-Astray MC, Perucho T, Morán-Jiménez MJ, García-Bravo M, Méndez M, Poblete-Gutiérrez P, Frank J, Henriques-Gil N, de Salamanca RE. Fontanellas A, et al. Exp Dermatol. 2010 Aug;19(8):e326-8. doi: 10.1111/j.1600-0625.2009.01040.x. Exp Dermatol. 2010. PMID: 20163457 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

73 results

Search Page

Filters