Transient neonatal renal failure and massive polyuria in MEGDEL syndrome
Harbulot, Carole, Paquay, Stéphanie, Dorboz, Imen, Pichard, Samia, Bourillon, Agnès, Benoist, Jean-François, Jardel, Claude, Ogier de Baulny, Hélène, Boespflug-Tanguy, Odile, Schiff, Manuel
Published in Molecular genetics and metabolism reports (01.06.2016)
Published in Molecular genetics and metabolism reports (01.06.2016)
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QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease
Guarani, Virginia, Jardel, Claude, Chrétien, Dominique, Lombès, Anne, Bénit, Paule, Labasse, Clémence, Lacène, Emmanuelle, Bourillon, Agnès, Imbard, Apolline, Benoist, Jean-François, Dorboz, Imen, Gilleron, Mylène, Goetzman, Eric S, Gaignard, Pauline, Slama, Abdelhamid, Elmaleh-Bergès, Monique, Romero, Norma B, Rustin, Pierre, Ogier de Baulny, Hélène, Paulo, Joao A, Harper, J Wade, Schiff, Manuel
Published in eLife (13.09.2016)
Published in eLife (13.09.2016)
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Journal Article
Correlation of Phenotype/Genotype in a Cohort of 23 Xeroderma Pigmentosum-Variant Patients Reveals 12 New Disease-Causing POLH Mutations
Opletalova, Kristina, Bourillon, Agnès, Yang, Wei, Pouvelle, Caroline, Armier, Jacques, Despras, Emmanuelle, Martin, Ludovic, Mateus, Christine, Robert, Caroline, Kannouche, Patricia, Soufir, Nadem, Sarasin, Alain
Published in Human mutation (01.01.2014)
Published in Human mutation (01.01.2014)
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Journal Article
SLC13A3 variants cause acute reversible leukoencephalopathy and α‐ketoglutarate accumulation
Dewulf, Joseph P., Wiame, Elsa, Dorboz, Imen, Elmaleh‐Bergès, Monique, Imbard, Apolline, Dumitriu, Dana, Rak, Malgorzata, Bourillon, Agnès, Helaers, Raphaël, Malla, Alisha, Renaldo, Florence, Boespflug‐Tanguy, Odile, Vincent, Marie‐Françoise, Benoist, Jean‐François, Wevers, Ron A., Schlessinger, Avner, Van Schaftingen, Emile, Nassogne, Marie‐Cécile, Schiff, Manuel
Published in Annals of neurology (01.03.2019)
Published in Annals of neurology (01.03.2019)
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Journal Article
Genotype–phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease
Denamur, Erick, Delezoide, Anne-Lise, Alberti, Corinne, Bourillon, Agnès, Gubler, Marie-Claire, Bouvier, Raymonde, Pascaud, Olivier, Elion, Jacques, Grandchamp, Bernard, Michel-Calemard, Laurence, Missy, Pascale, Zaccaria, Isabelle, Le Nagard, Hervé, Gerard, Bénédicte, Loirat, Chantal
Published in Kidney international (01.02.2010)
Published in Kidney international (01.02.2010)
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Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis
Paquay, Stéphanie, Bourillon, Agnès, Pichard, Samia, Benoist, Jean-François, de Lonlay, Pascale, Dobbelaere, Dries, Fouilhoux, Alain, Guffon, Nathalie, Rouvet, Isabelle, Labarthe, François, Mention, Karine, Touati, Guy, Valayannopoulos, Vassili, Ogier de Baulny, Hélène, Elmaleh-Bergès, Monique, Acquaviva-Bourdain, Cécile, Vianey-Saban, Christine, Schiff, Manuel
Published in Journal of inherited metabolic disease (01.05.2017)
Published in Journal of inherited metabolic disease (01.05.2017)
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Journal Article
Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects
Hu, Hui-Han, Guedj, Mickael, Descamps, Vincent, Jouary, Thomas, Bourillon, Agnes, Ezzedine, Khaled, Taieb, Alain, Bagot, Martine, Bensussan, Armand, Saiag, Philippe, Grandchamp, Bernard, Basset-Seguin, Nicole, Soufir, Nadem
Published in Journal of dermatological science (01.11.2011)
Published in Journal of dermatological science (01.11.2011)
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Journal Article
Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population
Guedj, Mickaël, Bourillon, Agnès, Combadières, Christophe, Rodero, Mathieu, Dieudé, Philippe, Descamps, Vincent, Dupin, Nicolas, Wolkenstein, Pierre, Aegerter, Philippe, Lebbe, Céleste, Basset-Seguin, Nicole, Prum, Bernard, Saiag, Philippe, Grandchamp, Bernard, Soufir, Nadem
Published in Human mutation (01.09.2008)
Published in Human mutation (01.09.2008)
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Journal Article
A Large French Case-Control Study Emphasizes the Role of Rare Mc1R Variants in Melanoma Risk
Dumaz, Nicolas, Benfodda, Mériem, Hu, Hui-Han, Gazal, Steven, Descamps, Vincent, Bourillon, Agnès, Basset-Seguin, Nicole, Riffault, Angélique, Ezzedine, Khaled, Bagot, Martine, Bensussan, Armand, Saiag, Philippe, Grandchamp, Bernard, Soufir, Nadem
Published in BioMed research international (01.01.2014)
Published in BioMed research international (01.01.2014)
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Journal Article
Association Between Endothelin Receptor B Nonsynonymous Variants and Melanoma Risk
Soufir, Nadem, Meziani, Roubila, Lacapère, Jean-Jacques, Bertrand, Guylene, Fumeron, Frederic, Bourillon, Agnes, Gérard, Bénédicte, Descamps, Vincent, Crickx, Béatrice, Ollivaud, Laurence, Archimbaud, Alain, Lebbe, Céleste, Basset-Seguin, Nicole, Saiag, Philippe, Grandchamp, Bernard
Published in JNCI : Journal of the National Cancer Institute (07.09.2005)
Published in JNCI : Journal of the National Cancer Institute (07.09.2005)
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Journal Article
A Prevalent Mutation with Founder Effect in Xeroderma Pigmentosum Group C from North Africa
Soufir, Nadem, Ged, Cecile, Bourillon, Agnes, Austerlitz, Frederic, Chemin, Cécile, Stary, Anne, Armier, Jacques, Pham, Daniele, Khadir, Khadija, Roume, Joelle, Hadj-Rabia, Smail, Bouadjar, Bakar, Taieb, Alain, de Verneuil, Hubert, Benchiki, Hakima, Grandchamp, Bernard, Sarasin, Alain
Published in Journal of investigative dermatology (01.06.2010)
Published in Journal of investigative dermatology (01.06.2010)
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Journal Article
Variants of the xeroderma pigmentosum variant gene ( POLH ) are associated with melanoma risk
Di Lucca, Julie, Guedj, Mickael, Lacapère, Jean-Jacques, Fargnoli, Maria Concetta, Bourillon, Agnes, Dieudé, Philippe, Dupin, Nicolas, Wolkenstein, Pierre, Aegerter, Philippe, Saiag, Philippe, Descamps, Vincent, Lebbe, Celeste, Basset-Seguin, Nicole, Peris, Ketty, Grandchamp, Bernard, Soufir, Nadem
Published in European journal of cancer (1990) (01.12.2009)
Published in European journal of cancer (1990) (01.12.2009)
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Journal Article
Genetic variation at KIT locus may predispose to melanoma
Bourillon, Agnes, Hu, Hui-Han, Hetet, Gilles, Lacapere, Jean-Jacques, André, Jocelyne, Descamps, Vincent, Basset-Seguin, Nicole, Ogbah, Zighereda, Puig, Susana, Saiag, Philippe, Bagot, Martine, Bensussan, Armand, Grandchamp, Bernard, Dumaz, Nicolas, Soufir, Nadem
Published in Pigment cell and melanoma research (01.01.2013)
Published in Pigment cell and melanoma research (01.01.2013)
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