Výsledky vyhledávání - Arveiler, Benoit

Analysis of the effect of aluminum in drinking water and transferrin C2 allele on Alzheimer's disease Autor Rondeau, Virginie, Iron, Albert, Letenneur, Luc, Commenges, Daniel, Duchêne, François, Arveiler, Benoit, Dartigues, Jean-François

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Syndrome de Costello: à propos d'une observation Autor Tajir, Mariam, Fergelot, Patricia, Lancelot, Gwenaelle, Arveiler, Benoit, Elalaoui, Siham Chafai, Lacombe, Didier, Sefiani, Abdelaziz

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Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS Autor Tingaud‐Sequeira, Angèle, Trimouille, Aurélien, Marlin, Sandrine, Lopez, Estelle, Berenguer, Marie, Gherbi, Souad, Arveiler, Benoit, Lacombe, Didier, Rooryck, Caroline

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Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome Autor Elalaoui, Siham Chafai, Smaili, Wiam, Van-Gils, Julien, Fergelot, Patricia, Ratbi, Ilham, Tajir, Mariam, Arveiler, Benoit, Lacombe, Didier, Sefiani, Abdelaziz

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Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture Autor Trimouille, Aurélien, Tingaud-Sequeira, Angèle, Pennamen, Perrine, André, Gwenaelle, Bouron, Julie, Boucher, Cécile, Fergelot, Patricia, Lacombe, Didier, Arveiler, Benoit, Rooryck, Caroline

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Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype Autor Morice-Picard, Fanny, Benard, Giovanni, Rezvani, Hamid R, Lasseaux, Eulalie, Simon, Delphine, Moutton, Sébastien, Rooryck, Caroline, Lacombe, Didier, Baumann, Clarisse, Arveiler, Benoit

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A novel de novo mutation in MYT1, the unique OAVS gene identified so far Autor Berenguer, Marie, Tingaud-Sequeira, Angele, Colovati, Mileny, Melaragno, Maria I, Bragagnolo, Silvia, Perez, Ana B A, Arveiler, Benoit, Lacombe, Didier, Rooryck, Caroline

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The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism Autor Michaud, Vincent, Lasseaux, Eulalie, Green, David J., Gerrard, Dave T., Plaisant, Claudio, Fitzgerald, Tomas, Birney, Ewan, Arveiler, Benoît, Black, Graeme C., Sergouniotis, Panagiotis I.

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The Dct(−/−) Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism Autor Tingaud-Sequeira, Angèle, Mercier, Elina, Michaud, Vincent, Pinson, Benoît, Gazova, Ivet, Gontier, Etienne, Decoeur, Fanny, McKie, Lisa, Jackson, Ian J., Arveiler, Benoît, Javerzat, Sophie

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The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible Autor Hinzpeter, Alexandre, Reboul, Marie‐Pierre, Callebaut, Isabelle, Zordan, Cécile, Costes, Bruno, Guichoux, Julie, Iron, Albert, Lacombe, Didier, Martin, Natacha, Arveiler, Benoit, Fanen, Pascale, Fergelot, Patricia, Girodon, Emmanuelle

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Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome Autor Bieth, Eric, Eddiry, Sanaa, Gaston, Véronique, Lorenzini, Françoise, Buffet, Alexandre, Conte Auriol, Françoise, Molinas, Catherine, Cailley, Dorothée, Rooryck, Caroline, Arveiler, Benoit, Cavaillé, Jérome, Salles, Jean Pierre, Tauber, Maïthé

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Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination Autor Trimouille, Aurélien, Marguet, Florent, Sauvestre, Fanny, Lasseaux, Eulalie, Pelluard, Fanny, Martin-Négrier, Marie-Laure, Plaisant, Claudio, Rooryck, Caroline, Lacombe, Didier, Arveiler, Benoît, Boespflug-Tanguy, Odile, Naudion, Sophie, Laquerrière, Annie

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ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency Autor Joly, Philippe, Vignaud, Hélène, Di Martino, Julie, Ruiz, Mathias, Garin, Roman, Restier, Lioara, Belmalih, Abdelouahed, Marchal, Christelle, Cullin, Christophe, Arveiler, Benoit, Fergelot, Patricia, Gitler, Aaron D., Lachaux, Alain, Couthouis, Julien, Bouchecareilh, Marion

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Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes Autor Markus, Fenja, Angelini, Chloé, Trimouille, Aurelien, Rudolf, Gabrielle, Lesca, Gaetan, Goizet, Cyril, Lasseaux, Eulalie, Arveiler, Benoit, van Slegtenhorst, Marjon, Brooks, Alice S., Abou Jamra, Rami, Korenke, Georg‐Christoph, Neidhardt, John, Owczarek‐Lipska, Marta

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Cardio‐facio‐cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome Autor Nava, Caroline, Hanna, Nadine, Michot, Caroline, Pereira, Sabrina, Pouvreau, Nathalie, Niihori, Tetsuya, Aoki, Yoko, Matsubara, Yoichi, Arveiler, Benoit, Lacombe, Didier, Pasmant, Eric, Parfait, Béatrice, Baumann, Clarisse, Héron, Delphine, Sigaudy, Sabine, Toutain, Annick, Rio, Marlène, Goldenberg, Alice, Leheup, Bruno, Verloes, Alain, Cavé, Hélène

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BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak Syndrome. Autor Pennamen, Perrine, Le, Linh, Tingaud-Sequeira, Angèle, Fiore, Mathieu, Bauters, Anne, Van Duong Béatrice, Nguyen, Coste, Valentine, Bordet, Jean-Claude, Plaisant, Claudio, Diallo, Modibo, Michaud, Vincent, Trimouille, Aurélien, Lacombe, Didier, Lasseaux, Eulalie, Delevoye, Cédric, Picard, Fanny Morice, Delobel, Bruno, Marks, Michael S., Arveiler, Benoit

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The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences Autor Kruijt, Charlotte C., Gradstein, Libe, Bergen, Arthur A., Florijn, Ralph J., Arveiler, Benoit, Lasseaux, Eulalie, Zanlonghi, Xavier, Bagdonaite-Bejarano, Laura, Fulton, Anne B., Yahalom, Claudia, Blumenfeld, Anat, Perez, Yonatan, Birk, Ohad S., de Wit, Gerard C., Schalij-Delfos, Nicoline E., van Genderen, Maria M.

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New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation Autor Pierron, Denis, Rocher, Christophe, Amati-Bonneau, Patricia, Reynier, Pascal, Martin-Négrier, Marie-Laure, Allouche, Stéphane, Batandier, Cécile, de Camaret, Benedicte Mousson, Godinot, Catherine, Rotig, Agnes, Feldmann, Delphine, Bellanne-Chantelot, Christine, Arveiler, Benoit, Pennarun, Erwann, Rossignol, Rodrigue, Crouzet, Marc, Murail, Pascal, Thoraval, Didier, Letellier, Thierry

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19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference Autor Trimouille, Aurélien, Houcinat, Nada, Vuillaume, Marie-Laure, Fergelot, Patricia, Boucher, Cécile, Toutain, Jérôme, Caignec, Cédric Le, Vincent, Marie, Nizon, Mathilde, Andrieux, Joris, Vanlerberghe, Clémence, Delobel, Bruno, Duban, Bénédicte, Mansour, Sahar, Baple, Emma, McKeown, Colina, Poke, Gemma, Robertshaw, Kate, Fifield, Eve, Fabretto, Antonella, Pecile, Vanna, Gasparini, Paolo, Carrozzi, Marco, Lacombe, Didier, Arveiler, Benoît, Rooryck, Caroline, Moutton, Sébastien

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Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study Autor Kuht, Helen J, Maconachie, Gail DE, Han, Jinu, Kessel, Line, van Genderen, Maria M, McLean, Rebecca J, Hisaund, Michael, Tu, Zhanhan, Hertle, Richard W, Gronskov, Karen, Bai, Dayong, Wei, Aihua, Li, Wei, Jiao, Yonghong, Smirnov, Vasily, Choi, Jae-Hwan, Tobin, Martin D, Sheth, Viral, Purohit, Ravi, Dawar, Basu, Girach, Ayesha, Strul, Sasha, May, Laura, Chen, Fred K, Heath Jeffery, Rachael C, Aamir, Abdullah, Sano, Ronaldo, Jin, Jing, Brooks, Brian P, Kohl, Susanne, Arveiler, Benoit, Montoliu, Lluis, Engle, Elizabeth C, Proudlock, Frank A, Nishad, Garima, Pani, Prateek, Varma, Girish, Gottlob, Irene, Thomas, Mervyn G

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