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1

Porphyrias

Hervé Puy, Laurent Gouya, Jean-Charles Deybach

Journal:

Year:

2010

Language:

english

File:

PDF, 1.00 MB

english, 2010

2

Porphyrias: A 2015 update

Karim, Zoubida, Lyoumi, Said, Nicolas, Gael, Deybach, Jean-Charles, Gouya, Laurent, Puy, Hervé

Journal:

Clinics and Research in Hepatology and Gastroenterology

Year:

2015

Language:

english

File:

PDF, 2.25 MB

english, 2015

3

Erythropoietic protoporphyria

Mario Lecha, Hervé Puy, Jean-Charles Deybach

Journal:

Orphanet Journal of Rare Diseases

Year:

2009

Language:

english

File:

PDF, 1.10 MB

english, 2009

4

European Porphyria Network (EPNET) for information, epidemiological data, quality and equity of service

Jean-Charles Deybach, Samantha Parker, Mike Badmiton…

Journal:

Orphanet Journal of Rare Diseases

Year:

2010

Language:

english

File:

PDF, 180 KB

english, 2010

5

The mitochondrial location of protoporphyrinogen oxidase

Jean-Charles DEYBACH, Vasco DA SILVA, Bernard GRANDCHAMP, Yves NORDMANN

Journal:

Year:

1985

Language:

english

File:

PDF, 521 KB

english, 1985

6

ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis

Helias, Virginie, Saison, Carole, Ballif, Bryan A, Peyrard, Thierry, Takahashi, Junko, Takahashi, Hideo, Tanaka, Mitsunobu, Deybach, Jean-Charles, Puy, Hervé, Le Gall, Maude, Sureau, Camille, Pham, Ba

Journal:

Nature Genetics

Year:

2012

Language:

english

File:

PDF, 643 KB

english, 2012

7

Haplotype Analysis in Determination of the Heredity of Erythropoietic Protoporphyria among Swiss Families

Hergersberg, Martin, Deybach, Jean-Charles, Schneider-Yin, Xiaoye, Rüfenacht, Urszula B., Schnyder, Cécile, Minder, Elisabeth I.

Journal:

The Journal of Investigative Dermatology

Year:

2001

Language:

english

File:

PDF, 160 KB

english, 2001

8

Detection of eleven mutations causing acute intermittent porphyria using denaturing gradient gel electrophoresis

Xue-Fan Gu, Felix Rooij, Gardi Voortman, Kor Velde, Jean-Charles Deybach, Yves Nordmann, Bernard Grandchamp

Journal:

Year:

1994

Language:

english

File:

PDF, 1.03 MB

english, 1994

9

Variegate Porphyria in Western Europe: Identification of PPOX Gene Mutations in 104 Families, Extent of Allelic Heterogeneity, and Absence of Correlation between Phenotype and Type of Mutation

Sharon D. Whatley, Hervé Puy, Rhian R. Morgan, Anne-Marie Robreau, Andrew G. Roberts, Yves Nordmann, George H. Elder, Jean-Charles Deybach

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 222 KB

english, 1999

10

Rapid Molecular Diagnosis of Erythropoietic Protoporphyria among Swiss Patients

Rüfenacht, Urszula B., Schneider-Yin, Xiaoye, Schäfer, Beat W., Taketani, Shigeru, Deybach, Jean-Charles P., Minder, Elisabeth I.

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

1998

Language:

english

File:

PDF, 43 KB

english, 1998

11

Current and innovative emerging therapies for porphyrias with hepatic involvement

Fontanellas, Antonio, Ávila, Matías A., Anderson, Karl E., Deybach, Jean-Charles

Journal:

Journal of Hepatology

Year:

2019

Language:

english

File:

PDF, 910 KB

english, 2019

12

Mutations in the iron-sulfur cluster ligands of the human ferrochelatase lead to erythropoietic protoporphyria

Schneider-Yin, Xiaoye, Gouya, Laurent, Dorsey, Morna, RuÌfenacht, Urszula, Deybach, Jean-Charles, Ferreira, GloÌria C.

Journal:

Year:

2000

File:

PDF, 141 KB

2000

13

New Missense Mutation in the Human Ferrochelatase Gene in a Family with Erythropoietic Protoporphyria: Functional Studies and Correlation of Genotype and Phenotype

RuÌfenacht, Urszula B, Gregor, Anita, Gouya, Laurent, Tarczynska-Nosal, Sylwia, Schneider-Yin, Xiaoye, Deybach, Jean-Charles

Journal:

Clinical Chemistry

Year:

2001

File:

PDF, 193 KB

2001

14

Évaluation de l'analyseur multiparamétrique Konelab 60i

Catherine Bogard, Tahar Bouizegarène, Jean-Charles Deybach

Journal:

Revue Française des Laboratoires

Year:

1999

Language:

english

File:

PDF, 758 KB

english, 1999

15

Heterogeneity of mutations in the uroporphyrinogen III synthase gene in congenital erythropoietic porphyria

Samia Boulechfar, Vasco Silva, Jean-Charles Deybach, Yves Nordmann, Bernard Grandchamp, Hubert Verneuil

Journal:

Year:

1992

Language:

english

File:

PDF, 578 KB

english, 1992

16

Mitochondrial energetic defects in muscle and brain of a Hmbs −/− mouse model of acute intermittent porphyria

Homedan, Chadi, Schmitt, Caroline, Laafi, Jihane, Gueguen, Naïg, Desquiret-Dumas, Valérie, Lenglet, Hugo, Karim, Zoubida, Gouya, Laurent, Deybach, Jean-Charles, Simard, Gilles, Puy, Hervé, Malthièry,

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 666 KB

english, 2015

17

Mutations in the Ferrochelatase Gene of Four Spanish Patients with Erythropoietic Protoporphyria

Gouya, Laurent, Schneider-Yin, Xiaoye, Rüfenacht, Urszula, Herrero, Carmen, Lecha, Mario, Mascaro, José M, Puy, Herve, Deybach, Jean-Charles, Minder, Elisabeth I

Journal:

The Journal of Investigative Dermatology

Year:

1998

Language:

english

File:

PDF, 213 KB

english, 1998

18

Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias

Laurent Gouya, Hervé Puy, Anne-Marie Robreau, Said Lyoumi, Jérome Lamoril, Vasco Silva, Bernard Grandchamp, Jean-Charles Deybach

Journal:

Year:

2004

Language:

english

File:

PDF, 277 KB

english, 2004

19

Ferrochelatase Structural Mutant (Fechm1Pas) in the House Mouse

Samia Boulechfar, Jérôme Lamoril, Xavier Montagutelli, Jean-Louis Guenet, Jean-Charles Deybach, Yves Nordmann, Harry Dailey, Bernard Grandchamp, Hubert de Verneuil

Journal:

Year:

1993

File:

PDF, 233 KB

1993

20

Characterization of Mutations in the CPO Gene in British Patients Demonstrates Absence of Genotype-Phenotype Correlation and Identifies Relationship between Hereditary Coproporphyria and Harderoporphyria

Jérôme Lamoril, Hervé Puy, Sharon D. Whatley, Caroline Martin, Jacqueline R. Woolf, Vasco Da Silva, Jean-Charles Deybach, George H. Elder

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 1.08 MB

english, 2001

21

Epistasis in iron metabolism: complex interactions betweenCp,Mon1a, andSlc40a1loci and tissue iron in mice

Delaby, Constance, Oustric, Vincent, Schmitt, Caroline, Muzeau, Francoise, Robreau, Anne-Marie, Letteron, Philippe, Couchi, Eric, Yu, Angel, Lyoumi, Saïd, Deybach, Jean-Charles, Puy, Herve, Karim, Zou

Journal:

Mammalian Genome

Year:

2013

Language:

english

File:

PDF, 687 KB

english, 2013

22

Methyl aminolevulinate

Delaby, Constance, Oustric, Vincent, Schmitt, Caroline, Muzeau, Francoise, Robreau, Anne-Marie, Letteron, Philippe, Couchi, Eric, Yu, Angel, Lyoumi, Saïd, Deybach, Jean-Charles, Puy, Herve, Karim, Zou

Journal:

Reactions Weekly

Year:

2013

Language:

english

File:

PDF, 128 KB

english, 2013

23

Ancestral Founder of Mutation W283X in the Porphobilinogen Deaminase Gene among Acute Intermittent Porphyria Patients

Schneider-Yin, Xiaoye, Hergersberg, Martin, Goldgar, David E., Rüfenacht, Urszula B., Schuurmans, Macé M., Puy, Hervé, Deybach, Jean-Charles, Minder, Elisabeth I.

Journal:

Year:

2003

Language:

english

File:

PDF, 177 KB

english, 2003

24

5-Aminolevulinic acid dehydratase deficiency porphyria: a twenty-year clinical and biochemical follow-up

Gross, Ulrich, Sassa, Shigeru, Jacob, Karl, Deybach, Jean-Charles, Nordmann, Yves, Frank, Margareta, Doss, Manfred O

Journal:

Clinical Chemistry

Year:

1998

File:

PDF, 380 KB

1998

25

Effects of succinylacetone on dimethylsulfoxide-mediated induction of heme pathway enzymes in mouse Friend virus-transformed erythroleukemia cells

Carole Beaumont, Jean-Charles Deybach, Bernard Grandchamp, Vasco Da Silva, Hubert De Verneuil, Yves Nordmann

Journal:

Experimental Cell Research

Year:

1984

Language:

english

File:

PDF, 740 KB

english, 1984

26

The 3′ region of the DRD2 gene is involved in genetic susceptibility to schizophrenia

Caroline Dubertret, Laurent Gouya, Naima Hanoun, Jean-Charles Deybach, Jean Adès, Michel Hamon, Philip Gorwood

Journal:

Schizophrenia Research

Year:

2004

Language:

english

File:

PDF, 201 KB

english, 2004

27

Panitumumab

Delaby, Constance, Oustric, Vincent, Schmitt, Caroline, Muzeau, Francoise, Robreau, Anne-Marie, Letteron, Philippe, Couchi, Eric, Yu, Angel, Lyoumi, Saïd, Deybach, Jean-Charles, Puy, Herve, Karim, Zou

Journal:

Reactions Weekly

Year:

2013

Language:

english

File:

PDF, 128 KB

english, 2013

28

Porphyries hépatiques aiguës : classification, diagnostic, traitement et prévention

Deybach, Jean-Charles

Journal:

EMC - Traité de Médecine AKOS

Year:

2006

Language:

french

File:

PDF, 140 KB

french, 2006

29

Study of anaesthetic agents for their ability to elicit porphyrin biosynthesis in chick embryo liver

Hubert de Verneuil, Jean-Charles Deybach, Nhu Phung, Vasco Da Silva, Yves Nordmann

Journal:

Biochemical Pharmacology

Year:

1983

Language:

english

File:

PDF, 544 KB

english, 1983

30

Acute Hepatic Porphyrias and Primary Liver Cancer

Andant, Christophe, Puy, Hervé, Faivre, Jean, Deybach, Jean-Charles

Journal:

Boston Medical and Surgical Journal

Year:

1998

Language:

english

File:

PDF, 146 KB

english, 1998

31

Recovery from a variegate porphyria by a liver transplantation

Nathalie Stojeba, Carole Meyer, Catherine Jeanpierre, Frédéric Perrot, Christine Hirth, Thierry Pottecher, Jean-Charles Deybach

Journal:

Liver Transplantation

Year:

2004

Language:

english

File:

PDF, 77 KB

english, 2004

32

Inheritance in Erythropoietic Protoporphyria: A Common Wild-Type Ferrochelatase Allelic Variant With Low Expression Accounts for Clinical Manifestation

Gouya, Laurent, Puy, Herve, Lamoril, JeroÌme, Da Silva, Vasco, Grandchamp, Bernard, Nordmann, Yves, Deybach, Jean-Charles

Journal:

Year:

1999

File:

PDF, 243 KB

1999

33

The incidence of inherited porphyrias in Europe

Elder, George, Harper, Pauline, Badminton, Michael, Sandberg, Sverre, Deybach, Jean-Charles

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 194 KB

english, 2013

34

Decreased nocturnal plasma melatonin levels in patients with recurrent acute intermittent porphyria attacks

Hervé Puy, Jean-Charles Deybach, Patrice Baudry, Jacques Callebert, Yvan Touitou, Yves Nordmann

Journal:

Year:

1993

Language:

english

File:

PDF, 319 KB

english, 1993

35

Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release

Fratz, Erica J., Clayton, Jerome, Hunter, Gregory A., Ducamp, Sarah, Breydo, Leonid, Uversky, Vladimir N., Deybach, Jean-Charles, Gouya, Laurent, Puy, Hervé, Ferreira, Gloria C.

Journal:

Year:

2015

Language:

english

File:

PDF, 2.66 MB

english, 2015

36

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

Gouya, Laurent, Puy, Herve, Robreau, Anne-Marie, Bourgeois, Monique, Lamoril, Jerôme, Silva, Vasco Da, Grandchamp, Bernard, Deybach, Jean-Charles

Journal:

Nature Genetics

Year:

2002

Language:

english

File:

PDF, 456 KB

english, 2002

37

An Uncommon Option for Surviving Bariatric Surgery: Regaining Weight!

Danion, François, Guillot, Max, Castelain, Vincent, Puy, Hervé, Deybach, Jean-Charles, Schneider, Francis

Journal:

The American Journal of Medicine

Year:

2012

Language:

english

File:

PDF, 128 KB

english, 2012

38

Three novel mutations in the coproporphyrinogen oxidase gene

Jérôme Lamoril, Jean-Charles Deybach, Hervé Puy, Bernard Grandchamp, Yves Nordmann

Journal:

Year:

1997

Language:

english

File:

PDF, 109 KB

english, 1997

39

Epidemiology of hepatitis C and G in sporadic and familial porphyria cutanea tarda

Jérôme Lamoril, Christophe Andant, Catherine Bogard, Hervé Puy, Laurent Gouya, Jean-Michel Pawlotsky, Vasco Da Silva, Jean-Claude Soulé, Jean-Charles Deybach, Yves Nordmann

Journal:

Year:

1998

Language:

english

File:

PDF, 65 KB

english, 1998

40

Systemic Administered mRNA as Therapy for Metabolic Diseases

Puy, Hervé, Deybach, Jean-Charles, Gouya, Laurent

Journal:

Trends in Molecular Medicine

Year:

2018

Language:

english

File:

PDF, 769 KB

english, 2018

41

A genetic schizophrenia-susceptibility region located between the ANKK1 and DRD2 genes

Caroline Dubertret, Claire Bardel, Nicolas Ramoz, Pierre-Marie Martin, Jean-Charles Deybach, Jean Adès, Philip Gorwood, Laurent Gouya

Journal:

Progress in Neuro-Psychopharmacology and Biological Psychiatry

Year:

2010

Language:

english

File:

PDF, 363 KB

english, 2010

42

Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors

Christophe Andant, Hervé Puy, Catherine Bogard, Jean Faivre, Jean-Claude Soulé, Yves Nordmann, Jean-Charles Deybach

Journal:

Journal of Hepatology

Year:

2000

Language:

english

File:

PDF, 914 KB

english, 2000

43

The V249I polymorphism of the CX3CR1 gene is associated with fibrostenotic disease behavior in patients with Crohnʼs disease

Sabate, Jean-Marc, Ameziane, Nejma, Lamoril, Jérôme, Jouet, Pauline, Farmachidi, Jean-Pierre, Soulé, Jean-Claude, Harnois, Florence, Sobhani, Iradj, Jian, Raymond, Deybach, Jean-Charles, de Prost, Dom

Journal:

European Journal of Gastroenterology & Hepatology

Year:

2008

Language:

english

File:

PDF, 117 KB

english, 2008

44

New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care

Schneider-Yin, Xiaoye, Gouya, Laurent, Meier-Weinand, Almut, Deybach, Jean-Charles, Minder, Elisabeth I.

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 99 KB

english, 2000

45

Combined factor V Leiden (G1691A) and prothrombin (G20210A) genotyping by multiplex real-time polymerase chain reaction using fluorescent resonance energy transfer hybridization probes on the Rotor-Gene 2000

Ameziane, Nejma, Lamotte, Maryse, Lamoril, Jérôme, Lebret, Dominique, Deybach, Jean-Charles, Kaiser, Thomas, de Prost, Dominique

Journal:

Blood Coagulation & Fibrinolysis

Year:

2003

Language:

english

File:

PDF, 78 KB

english, 2003

46

Identification of a Prevalent Nonsense Mutation (W283X) and Two Novel Mutations in the Porphobilinogen Deaminase Gene of Swiss Patients with Acute Intermittent Porphyria

Schneider-Yin, Xiaoye, Bogard, Catherine, Rüfenacht, Ursula B., Puy, Hervé, Nordmann, Yves, Minder, Elisabeth I., Deybach, Jean-Charles

Journal:

Year:

2000

Language:

english

File:

PDF, 419 KB

english, 2000

47

High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria

Pallet, Nicolas, Mami, Iadh, Schmitt, Caroline, Karim, Zoubida, François, Arnaud, Rabant, Marion, Nochy, Dominique, Gouya, Laurent, Deybach, Jean-Charles, Xu-Dubois, Yichum, Thervet, Eric, Puy, Hervé,

Journal:

Kidney International

Year:

2015

Language:

english

File:

PDF, 1.84 MB

english, 2015

48

The Porphyrin Handbook || Acute Intermittent Porphyria: From Clinical to Molecular Aspects

DEYBACH, JEAN-CHARLES

Year:

2003

Language:

english

File:

PDF, 2.37 MB

english, 2003

49

Vemurafenib: an unusual UVA-induced photosensitivity

Gelot, Pauline, Dutartre, Hervé, Khammari, Amir, Boisrobert, Aurélie, Schmitt, Caroline, Deybach, Jean-Charles, Nguyen, Jean-Michel, Seité, Sophie, Dréno, Brigitte

Journal:

Experimental Dermatology

Year:

2013

Language:

english

File:

PDF, 407 KB

english, 2013

50

Male limited association of the dopamine receptor D2 gene TaqI a polymorphism and alcohol dependence

Frédéric Limosin, Philip Gorwood, Jean-Yves Loze, Caroline Dubertret, Laurent Gouya, Jean-Charles Deybach, Jean Adès

Journal:

American Journal of Medical Genetics Part A

Year:

2002

Language:

english

File:

PDF, 59 KB

english, 2002

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