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Pamela Poblete Gutiérrez

Research Profile

Disorders

Procedures

Chemicals & Drugs

Anatomy

Skin

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Pedigree

Physiology

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Chile

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Publications

TOP 3
Jorge Frank; Pamela Poblete Gutiérrez; Norbert J Neumann
Photosensitivity in the elderly-think of late-onset protoporphyria.
A M van Tuyll van Serooskerken; Louise Warnich; Reno S Bladergroen; B I Drögemöller; Pamela Poblete Gutiérrez; Peter M Steijlen; K Te Velde; Michel van Geel; C J van Heerden; Jorge Frank
Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.
R Fölster-Holst; R Happle; J-M Jensen; R G L Nellen; Pamela Poblete Gutiérrez; T Schwarz; P M Steijlen; Michel van Geel; J Frank
Molecular genetic support for the rule of dichotomy in type 2 segmental Darier disease.

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All Publications

2013: Jorge Frank; Pamela Poblete Gutiérrez; Norbert J Neumann
Photosensitivity in the elderly-think of late-onset protoporphyria.
The Journal of investigative dermatology 2013;133(6):1467-71.
2012: A M van Tuyll van Serooskerken; Louise Warnich; Reno S Bladergroen; B I Drögemöller; Pamela Poblete Gutiérrez; Peter M Steijlen; K Te Velde; Michel van Geel; C J van Heerden; Jorge Frank
Extended haplotype studies in South African and Dutch variegate porphyria families carrying the recurrent p.R59W mutation confirm a common ancestry.
The British journal of dermatology 2012;166(2):261-5.
2012: R Fölster-Holst; R Happle; J-M Jensen; R G L Nellen; Pamela Poblete Gutiérrez; T Schwarz; P M Steijlen; Michel van Geel; J Frank
Molecular genetic support for the rule of dichotomy in type 2 segmental Darier disease.
The British journal of dermatology 2012;166(2):464-6.
2011: Anne Moniek van Tuyll van Serooskerken; J H Paul Wilson; Jens M Baron; Reno S Bladergroen; Felix W de Rooij; Annie Edixhoven; Sylvia Joussen; Rita H Koole; Hans F Merk; Pamela Poblete Gutiérrez; Peter M Steijlen; Kornelis te Velde; Michel van Geel; Jorge Frank
Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria.
The Journal of investigative dermatology 2011;131(11):2249-54.
2011: Anne Moniek van Tuyll van Serooskerken; Manon Ernst; Reno S Bladergroen; Carlos Wolff; Ylva Floderus; Pauline Harper; Pamela Poblete Gutiérrez; Michel van Geel; Jorge Frank
A recurrent mutation in variegate porphyria patients from Chile and Sweden: Evidence for a common genetic background?
Journal of dermatological science 2011;61(1):75-7.
2010: Jorge Frank; Pamela Poblete Gutiérrez
Porphyria cutanea tarda--when skin meets liver.
Best practice & research. Clinical gastroenterology 2010;24(5):735-45.
2010: Marko Siegesmund; Anne-Moniek van Tuyll van Serooskerken; Pamela Poblete Gutiérrez; Jorge Frank
The acute hepatic porphyrias: current status and future challenges.
Best practice & research. Clinical gastroenterology 2010;24(5):593-605.
2010: Antonio Fontanellas; María Martínez-Fresno; María Concepción Garrido-Astray; Teresa Perucho; María-Josefa Morán-Jiménez; María García-Bravo; Manuel Méndez; Pamela Poblete Gutiérrez; Jorge Frank; Nuno Henriques-Gil; Rafael Enríquez de Salamanca
Smoking but not homozygosity for CYP1A2 g-163A allelic variant leads to earlier disease onset in patients with sporadic porphyria cutanea tarda.
Experimental dermatology 2010;19(8):e326-8.
2010: Jorge Frank; Pamela Poblete Gutiérrez
Valuable insights from molecular genetic studies in the porphyrias.
The British journal of dermatology 2010;162(3):470-1.
2009: Manuel Méndez; Pamela Poblete Gutiérrez; María-José Morán-Jiménez; M-E Rodriguez; M-C Garrido-Astray; Antonio Fontanellas; Jorge Frank; Rafael Enríquez de Salamanca
A homozygous mutation in the ferrochelatase gene underlies erythropoietic protoporphyria associated with palmar keratoderma.
The British journal of dermatology 2009;160(6):1330-4.
2009: Sadhanna Badeloe; K Y van Spaendonck-Zwarts; Maurice A M van Steensel; A M W van Marion; A J van Essen; Marcel F Jonkman; Peter M Steijlen; Pamela Poblete Gutiérrez; Michel van Geel; Jorge Frank
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer?
The British journal of dermatology 2009;160(3):707-9.
2009: Maurice A M van Steensel; Michel van Geel; Sadhanna Badeloe; Pamela Poblete Gutiérrez; Jorge Frank
Molecular pathways involved in hair follicle tumor formation: all about mammalian target of rapamycin?
Experimental dermatology 2009;18(2):185-91.
2009: A M Van Tuyll Van Serooskerke; X Schneider-Yin; R J Schimmel; Reno S Bladergroen; Pamela Poblete Gutiérrez; J Barman; M van Geel; Jorge Frank; E I Minder
Identification of a recurrent mutation in the protoporphyrinogen oxidase gene in Swiss patients with variegate porphyria: clinical and genetic implications.
Cellular and molecular biology (Noisy-le-Grand, France) 2009;55(2):96-101.
2009: Manuel Méndez; María-José Morán-Jiménez; S Gomez-Abecia; María García-Bravo; M C Garrido-Astray; Antonio Fontanellas; Pamela Poblete Gutiérrez; Jorge Frank; R Enriquez de Salamanca
Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria.
Cellular and molecular biology (Noisy-le-Grand, France) 2009;55(2):55-63.
2008: Ruud G L Nellen; Ariënne M W van Marion; Jorge Frank; Pamela Poblete Gutiérrez; Peter M Steijlen
Eruption of lymphocyte recovery or autologous graft-versus-host disease?
International journal of dermatology 2008;47 Suppl 1():32-4.
2008: Martina Kucharekova; Véronique Winnepenninckx; Jorge Frank; Pamela Poblete Gutiérrez
Generalized pustulosis induced by adalimumab in a patient with rheumatoid arthritis - a therapeutic challenge.
International journal of dermatology 2008;47 Suppl 1():25-8.
2008: Lizelotte J M T Parren; Ruud G L Nellen; Ariënne M W van Marion; Charles J M Henquet; Jorge Frank; Pamela Poblete Gutiérrez
Penile pyoderma gangrenosum: successful treatment with colchicine.
International journal of dermatology 2008;47 Suppl 1():7-9.
2008: Annet Westers-Attema; Astrid van Tubergen; H Plasschaert; Ariënne M W van Marion; Jorge Frank; Pamela Poblete Gutiérrez
Nodular vasculitis in systemic lupus erythematosus.
International journal of dermatology 2008;47 Suppl 1():3-6.
2008: Sadhanna Badeloe; Reno S Bladergroen; Marcel F Jonkman; Nigel P Burrows; Peter M Steijlen; Pamela Poblete Gutiérrez; Maurice A M van Steensel; Michel van Geel; Jorge Frank
Hereditary multiple cutaneous leiomyoma resulting from novel mutations in the fumarate hydratase gene.
Journal of dermatological science 2008;51(2):139-43.
2008: Roeland P M Ceulen; Ariënne M W van Marion; Peter M Steijlen; Jorge Frank; Pamela Poblete Gutiérrez
Multiple unilateral skin tumors suggest type 1 segmental manifestation of familial syringoma.
European journal of dermatology : EJD 2008;18(3):285-8.
2007: Hagen Ott; Jorge Frank; Pamela Poblete Gutiérrez
Eruptive lichen planus in a child.
Pediatric dermatology 2007;24(6):637-9.
2007: Anne-Moon van Tuyll van Serooskerken; J M Werner Habets; Sadhanna Badeloe; Pamela Poblete Gutiérrez; Jorge Frank
Porphyria cutanea tarda in pre-existent lupus erythematosus--is there an association?
International journal of dermatology 2007;46 Suppl 3():50-2.
2007: Esther J H Collaris; Ariënne M W van Marion; Jorge Frank; Pamela Poblete Gutiérrez
Cutaneous granulomas in rheumatoid arthritis.
International journal of dermatology 2007;46 Suppl 3():33-5.
2007: Nadia H Shadid; Carleine A C B Thissen; Ariënne M W van Marion; Pamela Poblete Gutiérrez; Jorge Frank
Lupus erythematosus associated with erythema multiforme: Rowell's syndrome.
International journal of dermatology 2007;46 Suppl 3():30-2.
2007: Anne-Moon van Tuyll van Serooskerken; Ariënne M W van Marion; Eugene A de Zwart-Storm; Jorge Frank; Pamela Poblete Gutiérrez
Lichen planus with bullous manifestation on the lip.
International journal of dermatology 2007;46 Suppl 3():25-6.
2007: Ruud G L Nellen; Joris J Rijzewijk; Jorge Frank; Pamela Poblete Gutiérrez
Juvenile amyopathic dermatomyositis with concomitant heart disease.
International journal of dermatology 2007;46 Suppl 3():22-4.
2007: Roeland P M Ceulen; Jorge Frank; Pamela Poblete Gutiérrez
Nail pigmentation due to hydroxycarbamide.
International journal of dermatology 2007;46 Suppl 3():13-5.
2007: Jeroen D D Vuerstaek; Jorge Frank; Pamela Poblete Gutiérrez
Bleomycin-induced flagellate dermatitis.
International journal of dermatology 2007;46 Suppl 3():3-5.
2007: Manuel Méndez; Pamela Poblete Gutiérrez; María García-Bravo; Tonio Wiederholt; María-José Morán-Jiménez; Hans F Merk; M C Garrido-Astray; Jorge Frank; Antonio Fontanellas; Rafael Enríquez de Salamanca
Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene.
The British journal of dermatology 2007;157(3):501-7.
2007: Maurice A M van Steensel; Valerie L R M Verstraeten; Jorge Frank; Nicole W J Kelleners-Smeets; Pamela Poblete Gutiérrez; Dominique Marcus-Soekarman; Reno S Bladergroen; Peter M Steijlen; Michel van Geel
Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients.
The Journal of investigative dermatology 2007;127(3):588-93.
2007: Sadhanna Badeloe; Michel van Geel; Maurice A M van Steensel; Peter M Steijlen; Pamela Poblete Gutiérrez; J A Frank
[From gene to disease; cutaneous leiomyomatosis].
Nederlands tijdschrift voor geneeskunde 2007;151(5):300-4.
2006: Pamela Poblete Gutiérrez; W H C Burgdorf; Cristina Has; Mark Berneburg; Jorge Frank
[Hereditary photodermatoses].
Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete 2006;57(12):1067-82.
2006: Andrea Math; Jorge Frank; Alessandra Handisurya; Pamela Poblete Gutiérrez; Katharina Slupetzky; Dagmar Födinger; Dorian Winter; Georg Stingl; Reinhard Kirnbauer
Identification of a de novo keratin 1 mutation in epidermolytic hyperkeratosis with palmoplantar involvement.
European journal of dermatology : EJD 2006;16(5):507-10.
2006: Sadhanna Badeloe; Michel van Geel; Maurice A M van Steensel; Jesús Bastida; Juan Ferrando; Peter M Steijlen; Jorge Frank; Pamela Poblete Gutiérrez
Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature.
Experimental dermatology 2006;15(9):735-41.
2006: Pamela Poblete Gutiérrez; Sadhanna Badeloe; Tonio Wiederholt; Hans F Merk; Jorge Frank
Dual porphyrias revisited.
Experimental dermatology 2006;15(9):685-91.
2006: Carlos Wolff; Jorge Frank; Pamela Poblete Gutiérrez
[Identification of mutations in the protoporphyrin oxidase gene and its diagnostic implications in porphyria variegata in Chile].
Revista de investigación clínica; organo del Hospital de Enfermedades de la Nutrición 2006;58(4):289-95.
2006: Pamela Poblete Gutiérrez; Tonio Wiederholt; Hans F Merk; Jorge Frank
[Laboratory tests and therapeutic strategies for the porphyrias].
Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete 2006;57(6):493-501.
2006: Pamela Poblete Gutiérrez; Tonio Wiederholt; Hans F Merk; Jorge Frank
The porphyrias: clinical presentation, diagnosis and treatment.
European journal of dermatology : EJD 2006;16(3):230-40.
2006: Pamela Poblete Gutiérrez; Faris Abuzahra; Francoise Becker; Heinrich Krause; Hans F Merk; Jorge Frank
Onychomycosis in a diabetic patient due to Trichophyton gallinae.
Mycoses 2006;49(3):254-7.
2006: Pamela Poblete Gutiérrez; Carlos Wolff; R Farias; Jorge Frank
A Chilean boy with severe photosensitivity and finger shortening: the first case of homozygous variegate porphyria in South America.
The British journal of dermatology 2006;154(2):368-71.
2006: Tonio Wiederholt; Pamela Poblete Gutiérrez; Kerstin Gardlo; G Goerz; K Bolsen; Hans F Merk; Jorge Frank
Identification of mutations in the uroporphyrinogen III cosynthase gene in German patients with congenital erythropoietic porphyria.
Physiological research / Academia Scientiarum Bohemoslovaca 2006;55 Suppl 2():S85-92.
2006: Jorge Frank; Pamela Poblete Gutiérrez; R Weiskirchen; Olav Gressner; Hans F Merk; F Lammert
Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda.
Physiological research / Academia Scientiarum Bohemoslovaca 2006;55 Suppl 2():S75-83.
2006: Pamela Poblete Gutiérrez; Tonio Wiederholt; A Martinez-Mir; Hans F Merk; J M Connor; A M Christiano; Jorge Frank
Demystification of Chester porphyria: a nonsense mutation in the Porphobilinogen Deaminase gene.
Physiological research / Academia Scientiarum Bohemoslovaca 2006;55 Suppl 2():S137-44.
2004: Pamela Poblete Gutiérrez; Tonio Wiederholt; Arne König; Frank K Jugert; Yvonne Marquardt; Albert Rübben; Hans F Merk; Rudolf Happle; Jorge Frank
Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept.
The Journal of clinical investigation 2004;114(10):1467-74.
2004: Stephan Michael Erdmann; Albert Rübben; Jorge Frank; Pamela Poblete Gutiérrez
[Mollusca contagiosa in an infant with atopic eczema. A therapeutic challenge].
Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete 2004;55(10):991-4.
2004: Pamela Poblete Gutiérrez; Tonio Wiederholt; Jorge Frank
[Inherited metabolic disorders with cutaneous manifestations].
Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete 2004;55(10):952-9.
2004: S Lehmann; Hagen Ott; M Barker; Gerhard Heimann; Pamela Poblete Gutiérrez; Jorge Frank
[Identification of geophilic and zoophilic dermatophytes in siblings with tinea capitis. A pathogenic factor or contamination?].
Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete 2004;55(10):1001-3.
2004: Pamela Poblete Gutiérrez; Torsten Beermann; Elke-Ingrid Grussendorf-Conen; Jorge Frank
[Treatment-resistant granulomatous rosacea-like dermatitis in a 9-year-old girl].
Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete 2004;55(10):997-9.
2004: Tonio Wiederholt; Pamela Poblete Gutiérrez; Hagen Ott; S Lehmann; Elke-Ingrid Grussendorf-Conen; Torsten Beermann; Jorge Frank
[Incontinentia pigmenti in a five-week-old girl].
Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete 2004;55(10):999-1001.
2004: Hagen Ott; S Lehmann; Pamela Poblete Gutiérrez; J Frank
[Progressive symmetric erythrokeratodermia of Darier-Gottron].
Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete 2004;55(10):994-6.
2004: Pamela Poblete Gutiérrez; Tonio Wiederholt; Kerstin Gardlo; K Bolsen; C Schnabel; Oliver Kunitz; Jorge Frank
[Porphyria: from clinics to molecular genetics].
Annales de dermatologie et de vénéréologie 2004;131(8-9):825-8.
2004: Pamela Poblete Gutiérrez; Manuel Mendez; Tonio Wiederholt; Hans F Merk; Antonio Fontanellas; Carlos Wolff; Jorge Frank
The molecular basis of porphyria cutanea tarda in Chile: identification and functional characterization of mutations in the uroporphyrinogen decarboxylase gene.
Experimental dermatology 2004;13(6):372-9.
2004: Hagen Ott; Harald Brost; Pamela Poblete Gutiérrez; Claudia M Schröder; Jorge Frank
Auriculotemporal syndrome in childhood.
Acta dermato-venereologica 2004;84(2):160-1.
2004: Richard Brans; Albert Rübben; Pamela Poblete Gutiérrez
[Cutaneous infection with Mycobacterium marinum. successful therapy with rifampicin and clarithromycin].
Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete 2004;55(1):76-9.
2004: Pamela Poblete Gutiérrez; Hagen Ott; S Krischer; Elke-Ingrid Grussendorf-Conen; Jorge Frank
[Adiponecrosis subcutanea neonatorum in congenital pneumonia].
Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete 2004;55(1):67-70.
2004: Stephan Michael Erdmann; C Bangard; Albert Rübben; Pamela Poblete Gutiérrez
[Unilateral facial edematous granulomatosis. Initial symptom of basalioma].
Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete 2004;55(1):65-7.
2003: Pamela Poblete Gutiérrez; Albert Rübben; Hans F Merk; Jorge Frank
Unilateral facial telangiectases suggest type 1 segmental manifestation of Osler-Rendu-Weber syndrome in an 11-year-old boy.
European journal of dermatology : EJD 2003;13(6):537-9.
2003: Tonio Wiederholt; Pamela Poblete Gutiérrez; Jorge Frank
[Genetically induced hair diseases].
Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete 2003;54(8):723-31.
2002: Pamela Poblete Gutiérrez; Thomas Eggermann; Daniela Hoeller Obrigkeit; Frank K Jugert; Torsten Beermann; Elke-Ingrid Grussendorf-Conen; Klaus Zerres; Hans F Merk; Jorge Frank
Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages.
The Journal of investigative dermatology 2002;119(2):527-31.
2001: Pamela Poblete Gutiérrez; Oliver Kunitz; Carlos Wolff; Jorge Frank
Diagnosis and treatment of the acute porphyrias: an interdisciplinary challenge.
Skin pharmacology and applied skin physiology 2001;14(6):393-400.
2001: Daniela Hoeller Obrigkeit; Berthold Huppertz; Thomas Christian Roos; Pamela Poblete Gutiérrez; Hans F Merk; Jorge Frank; Frank K Jugert
An improved and rapid method to construct skin equivalents from human hair follicles and fibroblasts.
Experimental dermatology 2001;10(4):264-71.