检索结果 - Arveiler, Benoît

Analysis of the effect of aluminum in drinking water and transferrin C2 allele on Alzheimer's disease 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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. 由 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 由 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 由 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 由 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 由 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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