Gouya, Laurent: search on Z-Library

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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

Pilot experience of multidisciplinary team discussion dedicated to inherited pulmonary fibrosis

Borie, Raphael, Kannengiesser, Caroline, Gouya, Laurent, Dupin, Clairelyne, Amselem, Serge, Ba, Ibrahima, Bunel, Vincent, Bonniaud, Philippe, Bouvry, Diane, Cazes, Aurélie, Clement, Annick, Debray, Ma

Journal:

Orphanet Journal of Rare Diseases

Year:

2019

File:

PDF, 1.31 MB

2019

4

Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria

Blouin, Jean-Marc, Ged, Cecile, Lalanne, Magalie, Lamrissi-Garcia, Isabelle, Morice-Picard, Fanny, Costet, Pierre, Daher, RaÃªd, Moreau-Gaudry, Francois, Bedel, Aurelie, Puy, Herve, Gouya, Laurent, Ka

Journal:

Year:

2020

File:

PDF, 1000 KB

2020

5

Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria

Laurent Gouya, Caroline Martin-Schmitt, Anne-Marie Robreau, Frédéric Austerlitz, Vasco Da Silva, Patrick Brun, Sylvie Simonin, Saïd Lyoumi, Bernard Grandchamp, Carole Beaumont, Hervé Puy, Jean-Charles

Journal:

The American Journal of Human Genetics

Year:

2006

Language:

english

File:

PDF, 705 KB

english, 2006

6

TSPO2 translocates 5âaminolevulinic acid into human erythroleukemia cells

Manceau, Hana, Lefevre, Sophie D, Mirmiran, Arienne, Hattab, Claude, Sugier, Hugo R, Schmitt, Caroline, Peoc'h, Katell, Puy, HervÃ©, Ostuni, Mariano A, Gouya, Laurent, Lacapere, JeanâJacques

Journal:

Biology of the Cell

Year:

2020

File:

PDF, 1.44 MB

2020

7

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

8

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

9

Liver Transplantation for Acute Intermittent Porphyria

Lissing, Mattias, Nowak, Greg, Adam, RenÃ©, Karam, Vincent, Boyd, Alexander, Gouya, Laurent, Meersseman, Wouter, Melum, Espen, OÅdakowskaâJedynak, Urszula, Reiter, Florian P., Colmenero, Jordi, San

Journal:

Liver Transplantation

Year:

2020

File:

PDF, 14.53 MB

2020

10

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys-Dietz syndrome and related disorders

Chantal Stheneur, Gwenaëlle Collod-Béroud, Laurence Faivre, Laurent Gouya, Gilles Sultan, Jean-Marie Le Parc, Bertrand Moura, David Attias, Christine Muti, Marc Sznajder, Mireille Claustres, Claudine

Journal:

Year:

2008

Language:

english

File:

PDF, 421 KB

english, 2008

11

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

Sharon D. Whatley, Sarah Ducamp, Laurent Gouya, Bernard Grandchamp, Carole Beaumont, Michael N. Badminton, George H. Elder, S. Alexander Holme, Alexander V. Anstey, Michelle Parker, Anne V. Corrigall,

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 617 KB

english, 2008

12

Hepcidin regulates intrarenal iron handling at the distal nephron

Moulouel, Boualem, Houamel, Dounia, Delaby, Constance, Tchernitchko, Dimitri, Vaulont, Sophie, Letteron, Philippe, Thibaudeau, Olivier, Puy, Hervé, Gouya, Laurent, Beaumont, Carole, Karim, Zoubida

Journal:

Kidney International

Year:

2013

Language:

english

File:

PDF, 2.99 MB

english, 2013

13

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

14

FRI-442-Acute hepatic porphyria disease manifestations and daily life impacts in EXPLORE international, prospective, natural history study

Gouya, Laurent, Balwani, Manisha, Bissell, D Montgomery, Rees, David, Stölzel, Ulrich, Phillips, John, Kauppinen, Raili, Langendonk, Janneke, Desnick, Robert, Deybach, Jean Charles, Bonkovsky, Herbert

Journal:

Journal of Hepatology

Year:

2019

Language:

english

File:

PDF, 210 KB

english, 2019

15

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

16

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

17

Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient

Laurent Gouya, Olivier Pascaud, Anne Munck, Jacques Elion, Erick Denamur

Journal:

Year:

1997

Language:

english

File:

PDF, 86 KB

english, 1997

18

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

19

Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients

Fratz-Berilla, Erica J., Breydo, Leonid, Gouya, Laurent, Puy, Hervé, Uversky, Vladimir N., Ferreira, Gloria C.

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2017

Language:

english

File:

PDF, 1.76 MB

english, 2017

20

Correction to: Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm

Luck, Margaux, Schmitt, Caroline, Talbi, Neila, Gouya, Laurent, Caradeuc, Cédric, Puy, Hervé, Bertho, Gildas, Pallet, Nicolas

Journal:

Year:

2018

Language:

english

File:

PDF, 518 KB

english, 2018

21

Stability of serum ferritin measured by immunoturbidimetric assay after storage at -80°C for several years

Sacri, Anne-Sylvia, Ferreira, Daniela, Khoshnood, Babak, Gouya, Laurent, Barros, Henrique, Chalumeau, Martin, Connor, James R.

Journal:

Year:

2017

Language:

english

File:

PDF, 1.33 MB

english, 2017

22

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

23

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

24

Reply

Karim, Zoubida, Puy, Hervé, Beaumont, Carole, Gouya, Laurent, Kannengiesser, Caroline

Journal:

Gastroenterology

Year:

2016

Language:

english

File:

PDF, 72 KB

english, 2016

25

Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias

Peoc'h, Katell, Nicolas, Gaël, Schmitt, Caroline, Mirmiran, Arienne, Daher, Raed, Lefebvre, Thibaud, Gouya, Laurent, Karim, Zoubida, Puy, Hervé

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 1.83 MB

english, 2019

26

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

27

Lethal ALAS2 mutation in males X-linked sideroblastic anaemia

Rose, Christian, Callebaut, Isabelle, Pascal, Laurent, Oudin, Claire, Fournier, Martine, Gouya, Laurent, Lambilliotte, Anne, Kannengiesser, Caroline

Journal:

British Journal of Haematology

Year:

2016

Language:

english

File:

PDF, 749 KB

english, 2016

28

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

29

PXR-ALAS1: A key regulatory pathway in liver toxicity induced by isoniazid-rifampicin antituberculosis treatment

Lyoumi, Said, Lefebvre, Thibaud, Karim, Zoubida, Gouya, Laurent, Puy, Hervé

Journal:

Clinics and Research in Hepatology and Gastroenterology

Year:

2013

Language:

english

File:

PDF, 492 KB

english, 2013

30

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations

Thevenon, Julien, Laurent, Gabriel, Ader, Flavie, Laforêt, Pascal, Klug, Didier, Duva Pentiah, Anju, Gouya, Laurent, Maurage, Claude Alain, Kacet, Salem, Eicher, Jean-Christophe, Albuisson, Juliette,

Journal:

Year:

2016

Language:

english

File:

PDF, 593 KB

english, 2016

31

A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease

Tchernitchko, Dimitri, Tavernier, Quentin, Lamoril, Jérôme, Schmitt, Caroline, Talbi, Neila, Lyoumi, Said, Robreau, Anne-Marie, Karim, Zoubida, Gouya, Laurent, Thervet, Eric, Karras, Alexandre, Puy, H

Journal:

Journal of the American Society of Nephrology

Year:

2016

Language:

english

File:

PDF, 766 KB

english, 2016

32

Porphyria and kidney diseases

Pallet, Nicolas, Karras, Alexandre, Thervet, Eric, Gouya, Laurent, Karim, Zoubida, Puy, Hervé

Journal:

Clinical Kidney Journal

Year:

2018

Language:

english

File:

PDF, 567 KB

english, 2018

33

CT, Endoscopic Sonography, and a Combined Protocol for Preoperative Evaluation of Pancreatic Insulinomas

Gouya, Hervé, Vignaux, Olivier, Augui, Joelle, Dousset, Bertrand, Palazzo, Laurent, Louvel, André, Chaussade, Stanislas, Legmann, Paul

Journal:

American Journal of Roentgenology

Year:

2003

Language:

english

File:

PDF, 2.36 MB

english, 2003

34

Urinary metabolic profiling of asymptomatic acute intermittent porphyria using a rule-mining-based algorithm

Luck, Margaux, Schmitt, Caroline, Talbi, Neila, Gouya, Laurent, Caradeuc, Cédric, Puy, Hervé, Bertho, Gildas, Pallet, Nicolas

Journal:

Year:

2018

Language:

english

File:

PDF, 2.73 MB

english, 2018

35

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

36

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

37

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

38

Erythrocyte Efferocytosis by the Arterial Wall Promotes Oxidation in Early-Stage Atheroma in Humans

Delbosc, Sandrine, Bayles, Richard Graham, Laschet, Jamila, Ollivier, Veronique, Ho-Tin-Noé, Benoit, Touat, Ziad, Deschildre, Catherine, Morvan, Marion, Louedec, Liliane, Gouya, Laurent, Guedj, Kevin,

Journal:

Frontiers in Cardiovascular Medicine

Year:

2017

Language:

english

File:

PDF, 6.55 MB

english, 2017

39

Genetic Study of Variation in Normal Mouse Iron Homeostasis Reveals Ceruloplasmin as an HFE-Hemochromatosis Modifier Gene

Laurent Gouya, Francoise Muzeau, Anne–Marie Robreau, Philippe Letteron, Eric Couchi, Saïd Lyoumi, Jean–Charles Deybach, Herve Puy, Robert Fleming, Peter Demant, Carole Beaumont, Bernard Grandchamp

Journal:

Gastroenterology

Year:

2007

Language:

english

File:

PDF, 354 KB

english, 2007

40

Urinary Metabolic Fingerprint of Acute Intermittent Porphyria Analyzed by 1 H NMR Spectroscopy

Carichon, Mickael, Pallet, Nicolas, Schmitt, Caroline, Lefebvre, Thibaud, Gouya, Laurent, Talbi, Neila, Deybach, Jean Charles, Beaune, Philippe, Vasos, Paul, Puy, Hervé, Bertho, Gildas

Journal:

Analytical Chemistry

Year:

2014

Language:

english

File:

PDF, 2.17 MB

english, 2014

41

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

42

Acute hepatic and erythropoietic porphyrias

Manceau, Hana, Gouya, Laurent, Puy, Hervé

Journal:

Current Opinion in Hematology

Year:

2017

Language:

english

File:

PDF, 1.93 MB

english, 2017

43

Bone marrow transplantation in congenital erythropoietic porphyria: Sustained efficacy but unexpected liver dysfunction

Besnard, Caroline, Schmitt, Caroline, Galmiche-Rolland, Louise, Debray, Dominique, Fabre, Monique, Molina, Thierry, Gouya, Laurent, Ged, Cécile, Castelle, Martin, Cavazzana, Marina, Magrin, Elisa, Nev

Journal:

Biology of Blood and Marrow Transplantation

Year:

2019

File:

PDF, 1.21 MB

2019

44

Late-Onset X-Linked Dominant Protoporphyria: An Etiology of Photosensitivity in the Elderly

Livideanu, Cristina Bulai, Ducamp, Sarah, Lamant, Laurence, Gouya, Laurent, Rauzy, Odile B, Deybach, Jean C, Paul, Carle, Puy, Hervé, Marguery, Marie C

Journal:

The Journal of Investigative Dermatology

Year:

2013

Language:

english

File:

PDF, 419 KB

english, 2013

45

A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity

Friedrich, Felix W., Dilanian, Gilles, Khattar, Patricia, Juhr, Denise, Gueneau, Lucie, Charron, Philippe, Fressart, Véronique, Vilquin, Jean-Thomas, Isnard, Richard, Gouya, Laurent, Richard, Pascale,

Journal:

European Journal of Heart Failure

Year:

2013

Language:

english

File:

PDF, 436 KB

english, 2013

46

Mutation in human CLPX elevates levels of δ- aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyria

Yien, Yvette Y., Ducamp, Sarah, van der Vorm, Lisa N., Kardon, Julia R., Manceau, Hana, Kannengiesser, Caroline, Bergonia, Hector A., Kafina, Martin D., Karim, Zoubida, Gouya, Laurent, Baker, Tania A.

Journal:

Proceedings of the National Academy of Sciences

Year:

2017

Language:

english

File:

PDF, 1.26 MB

english, 2017

47

Characterization and origin of heme precursors in amniotic fluid: lessons from normal and pathological pregnancies

Manceau, Hana, Puy, Vincent, Schmitt, Caroline M., Gil, Sophie, Lefebvre, Thibaud, Allaf, Bichr, Rosenblatt, Jonathan, Gouya, Laurent, Puy, Hervé, Muller, Francoise, Peoc’h, Katell

Journal:

Pediatric Research

Year:

2018

Language:

english

File:

PDF, 665 KB

english, 2018

48

LC-MS/MS method for hepcidin-25 measurement in human and mouse serum: clinical and research implications in iron disorders

Lefebvre, Thibaud, Dessendier, Nathalie, Houamel, Dounia, Ialy-Radio, Nathalie, Kannengiesser, Caroline, Manceau, Hana, Beaumont, Carole, Nicolas, Gael, Gouya, Laurent, Puy, Hervé, Karim, Zoubida

Journal:

Clinical Chemistry and Laboratory Medicine

Year:

2015

Language:

english

File:

PDF, 873 KB

english, 2015

49

Young children formula consumption and iron deficiency at 24 months in the general population: A national-level study

Sacri, Anne-Sylvia, Bocquet, Alain, de Montalembert, Mariane, Hercberg, Serge, Gouya, Laurent, Blondel, BÃ©atrice, Ganon, Amandine, Hebel, Pascale, Vincelet, Catherine, Thollot, Franck, Rallo, Massimi

Journal:

Clinical Nutrition

Year:

2020

File:

PDF, 453 KB

2020

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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