Adult diagnosis of Townes–Brocks syndrome with renal failure: Two related cases and review of literature
Beaudoux, Olivia, Lebre, Anne‐Sophie, Doco Fenzy, Martine, Spodenkiewicz, Marta, Canivet, Eric, Colosio, Charlotte, Poirsier, Céline
Published in American journal of medical genetics. Part A (01.03.2021)
Published in American journal of medical genetics. Part A (01.03.2021)
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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature
Bar, Claire, Barcia, Giulia, Jennesson, Mélanie, Le Guyader, Gwenaël, Schneider, Amy, Mignot, Cyril, Lesca, Gaetan, Breuillard, Delphine, Montomoli, Martino, Keren, Boris, Doummar, Diane, Billette de Villemeur, Thierry, Afenjar, Alexandra, Marey, Isabelle, Gerard, Marion, Isnard, Hervé, Poisson, Alice, Dupont, Sophie, Berquin, Patrick, Meyer, Pierre, Genevieve, David, De Saint Martin, Anne, El Chehadeh, Salima, Chelly, Jamel, Guët, Agnès, Scalais, Emmanuel, Dorison, Nathalie, Myers, Candace T., Mefford, Heather C., Howell, Katherine B., Marini, Carla, Freeman, Jeremy L., Nica, Anca, Terrone, Gaetano, Sekhara, Tayeb, Lebre, Anne‐Sophie, Odent, Sylvie, Sadleir, Lynette G., Munnich, Arnold, Guerrini, Renzo, Scheffer, Ingrid E., Kabashi, Edor, Nabbout, Rima
Published in Human mutation (01.01.2020)
Published in Human mutation (01.01.2020)
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Journal Article
Genetics of Usher Syndrome: New Insights From a Meta-analysis
Jouret, Guillaume, Poirsier, Céline, Spodenkiewicz, Marta, Jaquin, Clémence, Gouy, Evan, Arndt, Carl, Labrousse, Marc, Gaillard, Dominique, Doco-Fenzy, Martine, Lebre, Anne-Sophie
Published in Otology & neurotology (01.01.2019)
Published in Otology & neurotology (01.01.2019)
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Journal Article
Spectrum of HNF1B Mutations in a Large Cohort of Patients Who Harbor Renal Diseases
Heidet, Laurence, Decramer, Stéphane, Pawtowski, Audrey, Morinière, Vincent, Bandin, Flavio, Knebelmann, Bertrand, Lebre, Anne-Sophie, Faguer, Stanislas, Guigonis, Vincent, Antignac, Corinne, Salomon, Rémi
Published in Clinical journal of the American Society of Nephrology (01.06.2010)
Published in Clinical journal of the American Society of Nephrology (01.06.2010)
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Journal Article
Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy
Galmiche, Louise, Serre, Valérie, Beinat, Marine, Assouline, Zahra, Lebre, Anne-Sophie, Chretien, Dominique, Nietschke, Patrick, Benes, Vladimir, Boddaert, Nathalie, Sidi, Daniel, Brunelle, Francis, Rio, Marlène, Munnich, Arnold, Rötig, Agnès
Published in Human mutation (01.11.2011)
Published in Human mutation (01.11.2011)
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Journal Article
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome
Bar, Claire, Kuchenbuch, Mathieu, Barcia, Giulia, Schneider, Amy, Jennesson, Mélanie, Le Guyader, Gwenaël, Lesca, Gaetan, Mignot, Cyril, Montomoli, Martino, Parrini, Elena, Isnard, Hervé, Rolland, Anne, Keren, Boris, Afenjar, Alexandra, Dorison, Nathalie, Sadleir, Lynette G., Breuillard, Delphine, Levy, Raphael, Rio, Marlène, Dupont, Sophie, Negrin, Susanna, Danieli, Alberto, Scalais, Emmanuel, De Saint Martin, Anne, El Chehadeh, Salima, Chelly, Jamel, Poisson, Alice, Lebre, Anne‐Sophie, Nica, Anca, Odent, Sylvie, Sekhara, Tayeb, Brankovic, Vesna, Goldenberg, Alice, Vrielynck, Pascal, Lederer, Damien, Maurey, Hélène, Terrone, Gaetano, Besmond, Claude, Hubert, Laurence, Berquin, Patrick, Billette de Villemeur, Thierry, Isidor, Bertrand, Freeman, Jeremy L., Mefford, Heather C., Myers, Candace T., Howell, Katherine B., Rodríguez‐Sacristán Cascajo, Andrés, Meyer, Pierre, Genevieve, David, Guët, Agnès, Doummar, Diane, Durigneux, Julien, van Dooren, Marieke F., de Wit, Marie Claire Y., Gerard, Marion, Marey, Isabelle, Munnich, Arnold, Guerrini, Renzo, Scheffer, Ingrid E., Kabashi, Edor, Nabbout, Rima
Published in Epilepsia (Copenhagen) (01.11.2020)
Published in Epilepsia (Copenhagen) (01.11.2020)
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Journal Article
Epileptic phenotypes in children with respiratory chain disorders
El Sabbagh, Sandra, Lebre, Anne‐Sophie, Bahi‐Buisson, Nadia, Delonlay, Pascale, Soufflet, Christine, Boddaert, Nathalie, Rio, Marlène, Rötig, Agnès, Dulac, Olivier, Munnich, Arnold, Desguerre, Isabelle
Published in Epilepsia (Copenhagen) (01.07.2010)
Published in Epilepsia (Copenhagen) (01.07.2010)
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Journal Article
Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for KMT2A -Related Syndrome
Foroutan, Aidin, Haghshenas, Sadegheh, Bhai, Pratibha, Levy, Michael A, Kerkhof, Jennifer, McConkey, Haley, Niceta, Marcello, Ciolfi, Andrea, Pedace, Lucia, Miele, Evelina, Genevieve, David, Heide, Solveig, Alders, Mariëlle, Zampino, Giuseppe, Merla, Giuseppe, Fradin, Mélanie, Bieth, Eric, Bonneau, Dominique, Dieterich, Klaus, Fergelot, Patricia, Schaefer, Elise, Faivre, Laurence, Vitobello, Antonio, Maitz, Silvia, Fischetto, Rita, Gervasini, Cristina, Piccione, Maria, van de Laar, Ingrid, Tartaglia, Marco, Sadikovic, Bekim, Lebre, Anne-Sophie
Published in International journal of molecular sciences (05.02.2022)
Published in International journal of molecular sciences (05.02.2022)
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Journal Article
Natural history of Barth syndrome: a national cohort study of 22 patients
Rigaud, Charlotte, Lebre, Anne-Sophie, Touraine, Renaud, Beaupain, Blandine, Ottolenghi, Chris, Chabli, Allel, Ansquer, Helene, Ozsahin, Hulya, Di Filippo, Sylvie, De Lonlay, Pascale, Borm, Betina, Rivier, Francois, Vaillant, Marie-Catherine, Mathieu-Dramard, Michèle, Goldenberg, Alice, Viot, Géraldine, Charron, Philippe, Rio, Marlene, Bonnet, Damien, Donadieu, Jean
Published in Orphanet journal of rare diseases (08.05.2013)
Published in Orphanet journal of rare diseases (08.05.2013)
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Journal Article
Significant contribution of intragenic deletions to ARID1B mutation spectrum
Gorokhova, Svetlana, Mortreux, Jeremie, Afenjar, Alexandra, Attie-Bitach, Tania, Blanluet, Maud, Cormier-Daire, Valérie, Guerrot, Anne-Marie, Lebre, Anne-Sophie, Malan, Valérie, Nicolas, Gael, Rondeau, Sophie, Philip, Nicole, Saugier-Veber, Pascale, Badens, Catherine, Missirian, Chantal
Published in Genetics in medicine (01.11.2019)
Published in Genetics in medicine (01.11.2019)
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Journal Article
Diagnostic approach to neurotransmitter monoamine disorders: experience from clinical, biochemical, and genetic profiles
Kuster, Alice, Arnoux, Jean-Baptiste, Barth, Magalie, Lamireau, Delphine, Houcinat, Nada, Goizet, Cyril, Doray, Bérénice, Gobin, Stéphanie, Schiff, Manuel, Cano, Aline, Amsallem, Daniel, Barnerias, Christine, Chaumette, Boris, Plaze, Marion, Slama, Abdelhamid, Ioos, Christine, Desguerre, Isabelle, Lebre, Anne-Sophie, de Lonlay, Pascale, Christa, Laurence
Published in Journal of inherited metabolic disease (2018)
Published in Journal of inherited metabolic disease (2018)
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Primary mitochondrial disorders and mimics: Insights from a large French cohort
Rouzier, Cécile, Pion, Emmanuelle, Chaussenot, Annabelle, Bris, Céline, Ait‐El‐Mkadem Saadi, Samira, Desquiret‐Dumas, Valérie, Gueguen, Naïg, Fragaki, Konstantina, Amati‐Bonneau, Patrizia, Barcia, Giulia, Gaignard, Pauline, Steffann, Julie, Pennisi, Alessandra, Bonnefont, Jean‐Paul, Lebigot, Elise, Bannwarth, Sylvie, Francou, Bruno, Rucheton, Benoit, Sternberg, Damien, Martin‐Negrier, Marie‐Laure, Trimouille, Aurélien, Hardy, Gaëlle, Allouche, Stéphane, Acquaviva‐Bourdain, Cécile, Pagan, Cécile, Lebre, Anne‐Sophie, Reynier, Pascal, Cossee, Mireille, Attarian, Shahram, Paquis‐Flucklinger, Véronique, Procaccio, Vincent
Published in Annals of clinical and translational neurology (01.06.2024)
Published in Annals of clinical and translational neurology (01.06.2024)
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Journal Article
Huntington’s disease‐like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes
Stevanin, Giovanni, Fujigasaki, Hiroto, Lebre, Anne‐Sophie, Camuzat, Agnès, Jeannequin, Cécile, Dodé, Catherine, Takahashi, Junko, Sân, Chankranira, Bellance, Robert, Brice, Alexis, Durr, Alexandra
Published in Brain (London, England : 1878) (01.07.2003)
Published in Brain (London, England : 1878) (01.07.2003)
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Monoallelic Loss-of-Function IFT140 Pathogenic Variants Cause Autosomal Dominant Polycystic Kidney Disease: A Confirmatory Study With Suspicion of an Additional Cardiac Phenotype
Salhi, Sofiane, Doreille, Alice, Dancer, Marine Serveaux, Boueilh, Anna, Filipozzi, Pierre, El Karoui, Khalil, Ponce, Fanny, Lebre, Anne-Sophie, Raymond, Laure, Mesnard, Laurent
Published in American journal of kidney diseases (01.05.2024)
Published in American journal of kidney diseases (01.05.2024)
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Journal Article
Amyloid precursor-like protein 2 cleavage contributes to neuronal intranuclear inclusions and cytotoxicity in spinocerebellar ataxia-7 (SCA7)
Takahashi-Fujigasaki, Junko, Breidert, Tilo, Fujigasaki, Hiroto, Duyckaerts, Charles, Camonis, Jacques H, Brice, Alexis, Lebre, Anne-Sophie
Published in Neurobiology of disease (01.01.2011)
Published in Neurobiology of disease (01.01.2011)
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Journal Article
Nephronophthisis in Young Adults Phenocopying Thrombotic Microangiopathy and Severe Nephrosclerosis
Doreille, Alice, Raymond, Laure, Lebre, Anne-Sophie, Linster, Charel, Saraeva Lamri, Radoslava, Karras, Alexandre, Khayat, Rateb, Michel, Pierre-Antoine, Buob, David, Luque, Yosu, Rafat, Cédric, Mesnard, Laurent
Published in Clinical journal of the American Society of Nephrology (07.04.2021)
Published in Clinical journal of the American Society of Nephrology (07.04.2021)
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Journal Article
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: A study of an Indian family
Fujigasaki, Hiroto, Verma, Ishwar C., Camuzat, Agnès, Margolis, Russell L., Zander, Cecilia, Lebre, Anne-Sophie, Jamot, Laure, Saxena, Renu, Anand, Ish, Holmes, Susan E., Ross, Christopher A., Dürr, Alexandra, Brice, Alexis
Published in Annals of neurology (01.01.2001)
Published in Annals of neurology (01.01.2001)
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Journal Article
Prolidase deficiency: a new genetic cause of combined pulmonary fibrosis and emphysema syndrome in the adult
Cottin, Vincent, Nasser, Mouhamad, Traclet, Julie, Chalabreysse, Lara, Lèbre, Anne-Sophie, Si-Mohamed, Salim, Philit, François, Thivolet-Béjui, Françoise
Published in The European respiratory journal (01.04.2020)
Published in The European respiratory journal (01.04.2020)
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Journal Article
Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content
Takahashi, Junko, Fujigasaki, Hiroto, Zander, Cecilia, El Hachimi, Khalid H., Stevanin, Giovanni, Dürr, Alexandra, Lebre, Anne‐Sophie, Yvert, Gaël, Trottier, Yvon, Thé, Hugues de, Hauw, Jean‐Jacques, Duyckaerts, Charles, Brice, Alexis
Published in Brain (London, England : 1878) (01.07.2002)
Published in Brain (London, England : 1878) (01.07.2002)
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