P. Poblete‐Gutiérrez

发表

Biallelic inactivation of protoporphyrinogen oxidase and hydroxymethylbilane synthase is associated with liver cancer in acute porphyrias.

P. Bauer, C. Schroeder, X. Schneider-Yin, 2015, Journal of hepatology.

[Cutaneous infection with Mycobacterium marinum. successful therapy with rifampicin and clarithromycin].

R. Brans, A. Rübben, P. Poblete‐Gutiérrez, 2004, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

Nail pigmentation due to hydroxycarbamide

J. Frank, P. Poblete‐Gutiérrez, R. Ceulen, 2007, International journal of dermatology.

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

A. Fontanellas, M. Méndez, J. Frank, 2010, Experimental dermatology.

Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry

P. Steijlen, B. Drögemöller, J. Frank, 2012, The British journal of dermatology.

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

A. Fontanellas, M. Méndez, J. Frank, 2009, Cellular and molecular biology.

Juvenile amyopathic dermatomyositis with concomitant heart disease

J. Frank, J. J. Rijzewijk, R. Nellen, 2007, International journal of dermatology.

Nodular vasculitis in systemic lupus erythematosus

J. Frank, A. V. van Tubergen, A. V. van Marion, 2008, International journal of dermatology.

Generalized pustulosis induced by adalimumab in a patient with rheumatoid arthritis – a therapeutic challenge

J. Frank, V. Winnepenninckx, M. Kucháreková, 2008, International journal of dermatology.

Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda.

F. Lammert, R. Weiskirchen, H. Merk, 2006, Physiological research.

Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept.

R. Happle, H. Merk, J. Frank, 2004, The Journal of clinical investigation.

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

J. Frank, P. Poblete‐Gutiérrez, N. Neumann, 2013, The Journal of investigative dermatology.

Porphyria cutanea tarda--when skin meets liver.

J. Frank, P. Poblete‐Gutiérrez, 2010, Best practice & research. Clinical gastroenterology.

Eruption of lymphocyte recovery or autologous graft‐versus‐host disease?

P. Steijlen, J. Frank, A. V. van Marion, 2008, International journal of dermatology.

Molecular genetic support for the rule of dichotomy in type 2 segmental Darier disease

R. Happle, P. Steijlen, J. Frank, 2012, The British journal of dermatology.

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

H. Merk, J. Frank, A. Rübben, 2003, European journal of dermatology : EJD.

The porphyrias: clinical presentation, diagnosis and treatment.

H. Merk, J. Frank, T. Wiederholt, 2006, European journal of dermatology : EJD.

[Genetic hair diseases. An update].

K. Giehl, J. Frank, P. Poblete‐Gutiérrez, 2013, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

Onychomycosis in a diabetic patient due to Trichophyton gallinae

H. Merk, J. Frank, P. Poblete‐Gutiérrez, 2006, Mycoses.

Penile pyoderma gangrenosum: successful treatment with colchicine

C. Henquet, J. Frank, A. V. van Marion, 2008, International journal of dermatology.

Eruptive Lichen Planus in a Child

J. Frank, P. Poblete‐Gutiérrez, H. Ott, 2007, Pediatric dermatology.

[Identification of geophilic and zoophilic dermatophytes in siblings with tinea capitis. A pathogenic factor or contamination?].

M. Barker, J. Frank, G. Heimann, 2004, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

Auriculotemporal syndrome in childhood.

J. Frank, H. Brost, P. Poblete‐Gutiérrez, 2004, Acta dermato-venereologica.

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

J. Frank, C. Wolff, P. Poblete‐Gutiérrez, 2006, The British journal of dermatology.

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

P. Steijlen, J. Frank, M. V. van Steensel, 2006, Experimental dermatology.

Summary of the Dutch S3-guidelines on the treatment of psoriasis 2011. Dutch Society of Dermatology and Venereology.

T. Nijsten, E. D. De Jong, P. V. D. van de Kerkhof, 2014, Dermatology online journal.

Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients.

P. Steijlen, N. Kelleners-Smeets, J. Frank, 2007, The Journal of investigative dermatology.

Valuable insights from molecular genetic studies in the porphyrias

J. Frank, P. Poblete‐Gutiérrez, 2010, The British journal of dermatology.

[Inherited metabolic disorders with cutaneous manifestations].

J. Frank, T. Wiederholt, P. Poblete‐Gutiérrez, 2004, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia.

D. Seelow, H. Schild, A. Ekici, 2006, American journal of human genetics.

Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria.

H. Merk, J. Frank, T. Wiederholt, 2006, Physiological research.

Dual porphyrias revisited

H. Merk, J. Frank, T. Wiederholt, 2006, Experimental dermatology.

Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene.

A. Christiano, J. Connor, H. Merk, 2006, Physiological research.

The acute hepatic porphyrias: current status and future challenges.

J. Frank, M. Siegesmund, P. Poblete‐Gutiérrez, 2010, Best practice & research. Clinical gastroenterology.

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

A. Fontanellas, M. Méndez, H. Merk, 2004, Experimental dermatology.

The Porphyrias: Clinic, Diagnostics, Novel Investigative Tools and Evolving Molecular Therapeutic Strategies

J. Frank, P. Poblete‐Gutiérrez, A.M. van Tuyll van Serooskerken, 2010, Skin Pharmacology and Physiology.

Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria.

F. D. de Rooij, P. Steijlen, J. Wilson, 2011, The Journal of investigative dermatology.

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

J. Frank, P. Poblete‐Gutiérrez, 2011, Journal of internal medicine.

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

A. Fontanellas, M. Méndez, J. Frank, 2009, The British journal of dermatology.

Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?

J. Frank, M. V. van Steensel, P. Poblete‐Gutiérrez, 2009, Experimental dermatology.

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

P. Steijlen, J. Frank, K. van Spaendonck-Zwarts, 2009, The British journal of dermatology.

Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene.

N. Burrows, P. Steijlen, J. Frank, 2008, Journal of dermatological science.

[Incontinentia pigmenti in a five-week-old girl].

J. Frank, T. Wiederholt, S. Lehmann, 2004, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

[Mollusca contagiosa in an infant with atopic eczema. A therapeutic challenge].

J. Frank, S. Erdmann, A. Rübben, 2004, Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete.

Bleomycin‐induced flagellate dermatitis

J. Frank, P. Poblete‐Gutiérrez, J. D. Vuerstaek, 2007, International journal of dermatology.

Lupus erythematosus associated with erythema multiforme: Rowell's syndrome

J. Frank, P. Poblete‐Gutiérrez, Ariënne M. W. Van Marion, 2007, International journal of dermatology.

Porphyria cutanea tarda in pre‐existent lupus erythematosus – is there an association?

J. Frank, J. Habets, P. Poblete‐Gutiérrez, 2007, International journal of dermatology.

Lichen planus with bullous manifestation on the lip

J. Frank, A. V. van Marion, P. Poblete‐Gutiérrez, 2007, International journal of dermatology.

Hyperkeratosis lenticularis perstans (Flegel's disease) – successful treatment with topical corticosteroids

J. Frank, A. V. van Marion, P. Poblete‐Gutiérrez, 2008, International journal of dermatology.

Hepatocellular carcinoma in variegate porphyria: a serious complication.

X. Schneider-Yin, P. Went, J. Frank, 2010, Acta dermato-venereologica.

Cutaneous granulomas in rheumatoid arthritis

J. Frank, A. V. van Marion, P. Poblete‐Gutiérrez, 2007, International journal of dermatology.

A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?

P. Harper, J. Frank, C. Wolff, 2011, Journal of dermatological science (Amsterdam).

Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications.

X. Schneider-Yin, E. Minder, J. Frank, 2009, Cellular and molecular biology.