Porphyrias
Puy, Hervé, Prof, Gouya, Laurent, Prof, Deybach, Jean-Charles, Prof
Published in The Lancet (British edition) (13.03.2010)
Published in The Lancet (British edition) (13.03.2010)
Get full text
Journal Article
Clinical relevance of genotype–phenotype correlations beyond vascular events in a cohort study of 1500 Marfan syndrome patients with FBN1 pathogenic variants
Arnaud, Pauline, Milleron, Olivier, Hanna, Nadine, Ropers, Jacques, Ould Ouali, Nadia, Affoune, Amel, Langeois, Maud, Eliahou, Ludivine, Arnoult, Florence, Renard, Philippe, Michelon-Jouneaux, Marlène, Cotillon, Marie, Gouya, Laurent, Boileau, Catherine, Jondeau, Guillaume
Published in Genetics in medicine (01.07.2021)
Published in Genetics in medicine (01.07.2021)
Get full text
Journal Article
Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome
Arnaud, Pauline, Morel, Hélène, Milleron, Olivier, Gouya, Laurent, Francannet, Christine, Da Costa, Antoine, Le Goff, Carine, Jondeau, Guillaume, Boileau, Catherine, Hanna, Nadine
Published in Genetics in medicine (01.05.2021)
Published in Genetics in medicine (01.05.2021)
Get full text
Journal Article
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
Aubart, Melodie, Gazal, Steven, Arnaud, Pauline, Benarroch, Louise, Gross, Marie-Sylvie, Buratti, Julien, Boland, Anne, Meyer, Vincent, Zouali, Habib, Hanna, Nadine, Milleron, Olivier, Stheneur, Chantal, Bourgeron, Thomas, Desguerre, Isabelle, Jacob, Marie-Paule, Gouya, Laurent, Génin, Emmanuelle, Deleuze, Jean-François, Jondeau, Guillaume, Boileau, Catherine
Published in European journal of human genetics : EJHG (01.12.2018)
Published in European journal of human genetics : EJHG (01.12.2018)
Get full text
Journal Article
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, Hervé, Pallet, Nicolas
Published in Journal of the American Society of Nephrology (01.06.2017)
Published in Journal of the American Society of Nephrology (01.06.2017)
Get full text
Journal Article
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)
Arnaud, Pauline, Hanna, Nadine, Benarroch, Louise, Aubart, Mélodie, Bal, Laurence, Bouvagnet, Patrice, Busa, Tiffany, Dulac, Yves, Dupuis-Girod, Sophie, Edouard, Thomas, Faivre, Laurence, Gouya, Laurent, Lacombe, Didier, Langeois, Maud, Leheup, Bruno, Milleron, Olivier, Naudion, Sophie, Odent, Sylvie, Tchitchinadze, Maria, Ropers, Jacques, Jondeau, Guillaume, Boileau, Catherine
Published in Genetics in medicine (01.09.2019)
Published in Genetics in medicine (01.09.2019)
Get full text
Journal Article
Iron refractory iron deficiency anemia
De Falco, Luigia, Sanchez, Mayka, Silvestri, Laura, Kannengiesser, Caroline, Muckenthaler, Martina U, Iolascon, Achille, Gouya, Laurent, Camaschella, Clara, Beaumont, Carole
Published in Haematologica (Roma) (01.06.2013)
Published in Haematologica (Roma) (01.06.2013)
Get full text
Journal Article
Efficacy and safety of givosiran for acute hepatic porphyria: 24‐month interim analysis of the randomized phase 3 ENVISION study
Ventura, Paolo, Bonkovsky, Herbert L., Gouya, Laurent, Aguilera‐Peiró, Paula, Montgomery Bissell, D., Stein, Penelope E., Balwani, Manisha, Anderson, D. Karl E., Parker, Charles, Kuter, David J., Monroy, Susana, Oh, Jeeyoung, Ritchie, Bruce, Ko, John J., Hua, Zhaowei, Sweetser, Marianne T., Sardh, Eliane
Published in Liver international (01.01.2022)
Published in Liver international (01.01.2022)
Get full text
Journal Article
MFAP5 Loss-of-Function Mutations Underscore the Involvement of Matrix Alteration in the Pathogenesis of Familial Thoracic Aortic Aneurysms and Dissections
Barbier, Mathieu, Gross, Marie-Sylvie, Aubart, Mélodie, Hanna, Nadine, Kessler, Ketty, Guo, Dong-Chuan, Tosolini, Laurent, Ho-Tin-Noe, Benoit, Regalado, Ellen, Varret, Mathilde, Abifadel, Marianne, Milleron, Olivier, Odent, Sylvie, Dupuis-Girod, Sophie, Faivre, Laurence, Edouard, Thomas, Dulac, Yves, Busa, Tiffany, Gouya, Laurent, Milewicz, Dianna M., Jondeau, Guillaume, Boileau, Catherine
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
Get full text
Journal Article
A mutation in the iron-responsive element of ALAS2 is a modifier of disease severity in a patient suffering from CLPX associated erythropoietic protoporphyria
Ducamp, Sarah, Luscieti, Sara, Ferrer-Cortès, Xènia, Nicolas, Gaël, Manceau, Hana, Peoc'h, Katell, Yien, Yvette Y, Kannengiesser, Caroline, Gouya, Laurent, Puy, Herve, Sanchez, Mayka
Published in Haematologica (Roma) (01.07.2021)
Published in Haematologica (Roma) (01.07.2021)
Get full text
Journal Article
Deficient mitophagy pathways in sickle cell disease
Martino, Suella, Arlet, Jean‐Benoit, Odièvre, Marie‐Hélène, Jullien, Vincent, Moras, Martina, Hattab, Claude, Lefebvre, Thibaud, Gouya, Laurent, Ostuni, Mariano A., Lefevre, Sophie D., Le Van Kim, Caroline
Published in British journal of haematology (01.06.2021)
Published in British journal of haematology (01.06.2021)
Get full text
Journal Article
Liver Transplantation for Acute Intermittent Porphyria
Lissing, Mattias, Nowak, Greg, Adam, René, Karam, Vincent, Boyd, Alexander, Gouya, Laurent, Meersseman, Wouter, Melum, Espen, Ołdakowska‐Jedynak, Urszula, Reiter, Florian P., Colmenero, Jordi, Sanchez, Rosario, Herden, Uta, Langendonk, Janneke, Ventura, Paolo, Isoniemi, Helena, Boillot, Olivier, Braun, Felix, Perrodin, Stéphanie, Mowlem, Elizabeth, Wahlin, Staffan
Published in Liver transplantation (01.04.2021)
Published in Liver transplantation (01.04.2021)
Get full text
Journal Article
Management of suspected monogenic lung fibrosis in a specialised centre
Borie, Raphael, Kannengiesser, Caroline, Sicre de Fontbrune, Flore, Gouya, Laurent, Nathan, Nadia, Crestani, Bruno
Published in European respiratory review (30.06.2017)
Published in European respiratory review (30.06.2017)
Get full text
Journal Article
A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis
Arnaud, Pauline, Racine, Caroline, Hanna, Nadine, Thevenon, Julien, Alessandri, Jean-Luc, Bonneau, Dominique, Clayton-Smith, Jill, Coubes, Christine, Delobel, Bruno, Dupuis-Girod, Sophie, Gouya, Laurent, Odent, Sylvie, Carmignac, Virginie, Thauvin-Robinet, Christel, Le Goff, Carine, Jondeau, Guillaume, Boileau, Catherine, Faivre, Laurence
Published in Human genetics (01.04.2020)
Published in Human genetics (01.04.2020)
Get full text
Journal Article
The clinical presentation of Marfan syndrome is modulated by expression of wild-type FBN1 allele
Aubart, Mélodie, Gross, Marie-Sylvie, Hanna, Nadine, Zabot, Marie-Thérèse, Sznajder, Marc, Detaint, Delphine, Gouya, Laurent, Jondeau, Guillaume, Boileau, Catherine, Stheneur, Chantal
Published in Human molecular genetics (15.05.2015)
Published in Human molecular genetics (15.05.2015)
Get full text
Journal Article
Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria
Mirmiran, Arienne, Poli, Antoine, Ged, Cecile, Schmitt, Caroline, Lefebvre, Thibaud, Manceau, Hana, Daher, Raêd, Moulouel, Boualem, Peoc'h, Katell, Simonin, Sylvie, Blouin, Jean-Marc, Deybach, Jean-Charles, Nicolas, Gaël, Puy, Hervé, Richard, Emmanuel, Gouya, Laurent
Published in Haematologica (Roma) (01.03.2021)
Published in Haematologica (Roma) (01.03.2021)
Get full text
Journal Article
Autofluorescence imaging within the liver: a promising tool for the detection and characterization of primary liver tumors
Benoit, Charlotte, Rodrigues, Aurélie, Calderaro, Julien, Charpy, Cécile, Simonin, Sylvie, Deybach, Jean-Charles, Gouya, Laurent, Puy, Hervé, Schmitt, Caroline, Farcy, René, Vilgrain, Valérie, Paradis, Valérie, Pote, Nicolas, Lafdil, Fouad, Mule, Sébastien, Itti, Emmanuel, Luciani, Alain
Published in European radiology (01.04.2022)
Published in European radiology (01.04.2022)
Get full text
Journal Article
Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay
Poli, Antoine, Schmitt, Caroline, Moulouel, Boualem, Mirmiran, Arienne, Puy, Hervé, Lefèbvre, Thibaud, Gouya, Laurent
Published in Metabolites (23.11.2021)
Published in Metabolites (23.11.2021)
Get full text
Journal Article
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, Marie Pierre, Dieude, Philippe, Epaud, Ralph, Fanen, Pascale, Lainey, Elodie, Legendre, Marie, Plessier, Aurélie, Sicre de Fontbrune, Flore, Wemeau-Stervinou, Lidwine, Cottin, Vincent, Nathan, Nadia, Crestani, Bruno
Published in Orphanet journal of rare diseases (03.12.2019)
Published in Orphanet journal of rare diseases (03.12.2019)
Get full text
Journal Article