Human Genome Epidemiology Literature Finder
Rare Diseases
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Query Trace: Porphyria Cutanea Tarda[original query] |
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Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT). Cellular and molecular biology (Noisy-le-Grand, France) 2002 Feb 48 (1): 33-41. Lamoril Jér?me, Andant Christophe, Gouya Laurent, Malonova Eva, Grandchamp Bernard, Martásek Pavel, Deybac Jean-Charles, Puy Her |
Porphyria cutanea tarda, C282Y, H63D and S65C HFE gene mutations and hepatitis C infection: a study from southern France. Dermatology (Basel, Switzerland) 2003 206 (3): 212-6. Chiavérini Christine, Halimi Gilles, Ouzan Denis, Halfon Philippe, Ortonne Jean-Paul, Lacour Jean-Philip |
Porphyria cutanea tarda: the etiological importance of mutations in the HFE gene and viral infection is population-dependent. Cellular and molecular biology (Noisy-le-Grand, France) 2002 Dec 48 (8): 853-9. Hift R J, Corrigall A V, Hancock V, Kannemeyer J, Kirsch R E, Meissner P |
Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tarda. Archives of dermatology 2003 Mar 139 (3): 309-13. Stölzel Ulrich, Köstler Erich, Schuppan Detlef, Richter Matthias, Wollina Uwe, Doss Manfred O, Wittekind Christian, Tannapfel Andr |
Clinical relevance of hemochromatosis-related HFE C282Y/H63D gene mutations in patients on chronic dialysis. Clinical nephrology 2002 Dec 58 (6): 438-44. Canavese C, Bergamo D, Barbieri S, Timbaldi M, Thea A, Martina G, Damiani D, Fenoglio R, Donati-Marella B, Priolo |
Hemochromatosis (HFE) gene mutations and hepatitis C virus infection as risk factors for porphyria cutanea tarda in Hungarian patients. Liver international : official journal of the International Association for the Study of the Liver 2004 Feb 24 (1): 16-20. Nagy Z, Kószó F, Pár A, Emri G, Horkay I, Horányi M, Karádi O, Rumi G, Morvay M, Varga V, Dobozy A, Mózsik G |
Cytochrome p450A1 polymorphisms in a Caucasian population with porphyria cutanea tarda. Experimental dermatology 2003 Dec 12 (6): 843-8. Gardlo K, Selimovic D, Bolsen K, Ruzicka T, Abel J, Fritsch |
Human leukocyte antigen haplotypes and HFE mutations in Spanish hereditary hemochromatosis and sporadic porphyria cutanea tarda. Journal of gastroenterology and hepatology 2005 Mar 20 (3): 456-62. Gonzalez-Hevilla Mario, de Salamanca Rafael E, Morales Pablo, Martínez-Laso Jorge, Fontanellas Antonio, Castro Maria José, Rojo Ricardo, Moscoso Juan, Zamora Jorge, Serrano-Vela Juan Ignacio, Arnaiz-Villena Anton |
[Mutations of hemochromatosis gene in volunteer blood donors and Chilean porphyria cutanea tarda patients]. Medicina 2006 66 (5): 421-6. Wolff Carlos F, Armas Rodolfo M, Frank Jorge, Poblete Pamela |
The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea tarda without hepatitis C virus infection. Journal of the European Academy of Dermatology and Venereology : JEADV 2006 Nov 20 (10): 1201-6. Toll A, Celis R, Ozalla M D, Bruguera M, Herrero C, Ercilla M |
Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls. Hepatology (Baltimore, Md.) 2007 Oct 46 (4): 1071-80. Ellervik Christina, Birgens Henrik, Tybjaerg-Hansen Anne, Nordestgaard Børge |
Molecular heterogeneity of familial porphyria cutanea tarda in Spain: characterization of 10 novel mutations in the UROD gene. The British journal of dermatology 2007 Sep 157 (3): 501-7. Méndez M, Poblete-Gutiérrez P, García-Bravo M, Wiederholt T, Morán-Jiménez M J, Merk H F, Garrido-Astray M C, Frank J, Fontanellas A, Enríquez de Salamanca |
Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda. Physiological research / Academia Scientiarum Bohemoslovaca 2006 55 Suppl 2 (): S75-83. Frank J, Poblete-Gutiérrez P, Weiskirchen R, Gressner O, Merk H F, Lammert |
The HLA-A1-B8 haplotype hitchhiking with the hemochromatosis mutation: does it affect the phenotype? European journal of haematology 2007 Nov 79 (5): 429-34. Olsson K Sigvard, Ritter Bernd, Hansson Norbe |
Down-regulation of hepcidin in porphyria cutanea tarda. Blood 2008 Dec 112 (12): 4723-8. Ajioka Richard S, Phillips John D, Weiss Robert B, Dunn Diane M, Smit Maria W, Proll Sean C, Katze Michael G, Kushner James |
High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic. The British journal of dermatology 2008 Sep 159 (3): 585-90. Kratka K, Dostalikova-Cimburova M, Michalikova H, Stransky J, Vranova J, Horak |
Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study. Dermatology (Basel, Switzerland) 2009 218 (1): 15-21. Cribier Bernard, Chiaverini Christine, Dali-Youcef Nassim, Schmitt Michèle, Grima Michèle, Hirth Christine, Lacour Jean-Philippe, Chosidow Olivi |
Identification and characterization of novel uroporphyrinogen decarboxylase gene mutations in a large series of porphyria cutanea tarda patients and relatives. Clinical genetics 2009 Apr 75 (4): 346-53. Badenas C, To-Figueras J, Phillips J D, Warby C A, Muñoz C, Herrero |
[Porphyria cutanea tarda. An analysis of HFE gene mutations, hepatitis viruses, alcohol intake, and other risk factors in 54 patients from Guipúzcoa, Basque Country, Spain]. Revista española de enfermedades digestivas : organo oficial de la Sociedad Española de Patología Digestiva 2008 Dec 100 (12): 774-8. Castiella A, Zapata E, de Juan M D, Múgica F, Barrio J, Otazua P, Arriola J A, Cosme A, Elosegui E, Fernández J, Zubiaurre L, Alzate L F, Utrilla E, |
Associations among behavior-related susceptibility factors in porphyria cutanea tarda. Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association 2010 Mar 8 (3): 297-302, 302.e1. Jalil Sajid, Grady James J, Lee Chul, Anderson Karl |
Significance of H63D homozygosity in a Basque population with hemochromatosis. Journal of gastroenterology and hepatology 2010 Jul 25 (7): 1295-8. Castiella Agustin, Zapata Eva, de Juan Maria Dolores, Otazua Pedro, Fernandez Javier, Zubiaurre Leire, Arriola Jose A, |
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 Aug 19 (8): e326-8. Fontanellas Antonio, Martínez-Fresno María, Garrido-Astray María Concepción, Perucho Teresa, Morán-Jiménez María-Josefa, García-Bravo María, Méndez Manuel, Poblete-Gutiérrez Pamela, Frank Jorge, Henriques-Gil Nuno, de Salamanca Rafael Enríqu |
Hemojuvelin and hepcidin gene mutations in patients with porphyria cutanea tarda from Southern France. Acta dermato-venereologica 2011 Jan 91 (1): 66-7. Du Thanh Aurélie, Aguilar-Martinez Patricia, Cunat Séverine, Bessis Didier, Guillot Bernard, Dereure Olivi |
CYP1A2*1F and GSTM1 alleles are associated with susceptibility to porphyria cutanea tarda. Molecular medicine (Cambridge, Mass.) 0 17 (3-4): 241-7. Wickliffe Jeffrey K, Abdel-Rahman Sherif Z, Lee Chul, Kormos-Hallberg Csilla, Sood Gagan, Rondelli Catherine M, Grady James J, Desnick Robert J, Anderson Karl |
Comprehensive cytochrome P450 CYP1A2 gene analysis in French caucasian patients with familial and sporadic porphyria cutanea tarda. The British journal of dermatology 2012 Feb 166 (2): 425-9. Tchernitchko D, Robréau A M, Lefebvre T, Lamoril J, Deybach J C, Puy |
Precipitating factors of porphyria cutanea tarda in Brazil with emphasis on hemochromatosis gene (HFE) mutations. Study of 60 patients. Anais brasileiros de dermatologia 0 88 (4): 530-40. Vieira Fatima Mendonça Jorge, Nakhle Maria Cristina, Abrantes-Lemos Clarice Pires, Cançado Eduardo Luiz Rachid, Reis Vitor Manoel Silva d |
The D519G Polymorphism of Glyceronephosphate O-Acyltransferase Is a Risk Factor for Familial Porphyria Cutanea Tarda. PloS one 0 11 (9): e0163322. Farrell Colin P, Overbey Jessica R, Naik Hetanshi, Nance Danielle, McLaren Gordon D, McLaren Christine E, Zhou Luming, Desnick Robert J, Parker Charles J, Phillips John |
SLC40A1 and CP single nucleotide polymorphisms in porphyria cutanea tarda patients of mixed ancestry. Annals of human genetics 2018 May . Succi Isabella Brasil, Pôrto Luís Cristóvão, Silva Dayse, Nascimento Adriana, Neto Ronald Costa, Fonseca João Carl |
Role of ABCB1 and glutathione S-transferase gene variants in the association of porphyria cutanea tarda and human immunodeficiency virus infection. Biomedical reports 2020 12 14 (2): 22. Pagnotta Priscila Ayelén, Melito Viviana Alicia, Lavandera Jimena Verónica, Parera Victoria Estela, Rossetti María Victoria, Zuccoli Johanna Romina, Buzaleh Ana Mar |
Ledipasvir/Sofosbuvir Is Effective as Sole Treatment of Porphyria Cutanea Tarda with Chronic Hepatitis C. Digestive diseases and sciences 2023 2 1-9. Bonkovsky Herbert L, Rudnick Sean P, Ma Christopher D, Overbey Jessica R, Wang Kelly, Faust Denise, Hallberg Csilla, Hedstrom Karli, Naik Hetanshi, Moghe Akshata, Anderson Karl |
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