Search Results - Arveiler, Benoit

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  1. 1
    Analysis of the effect of aluminum in drinking water and transferrin C2 allele on Alzheimer's disease

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

    Published 2006
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  2. 2
    Syndrome de Costello: à propos d'une observation

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

    Published 2012
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  3. 3
    Functional and genetic analyses of ZYG11B provide evidences for its involvement in OAVS

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

    Published 2020
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  4. 4
    Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome

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

    Published 2021
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  5. 5
    Deletion in 2q35 excluding the IHH gene leads to fetal severe limb anomalies and suggests a disruption of chromatin architecture

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

    Published 2018
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  6. 6
    Complete loss of function of the ubiquitin ligase HERC2 causes a severe neurodevelopmental phenotype

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

    Published 2017
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  7. 7
    A novel de novo mutation in MYT1, the unique OAVS gene identified so far

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

    Published 2017
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  8. 8
    The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism

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

    Published 2022
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  9. 9
    The Dct(−/−) Mouse Model to Unravel Retinogenesis Misregulation in Patients with Albinism

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

    Published 2022
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  10. 10
    The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible

    The importance of functional tests to assess the effect of a new CFTR variant when genotype–phenotype correlation is not possible by 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

    Published 2017
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  11. 11
    Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome

    Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome by 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

    Published 2015
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  12. 12
    Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination

    Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination by 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

    Published 2020
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  13. 13
    ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency

    ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency by 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

    Published 2017
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  14. 14
    Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes

    Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes by 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

    Published 2020
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  15. 15
    Cardio‐facio‐cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

    Cardio‐facio‐cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome by 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

    Published 2007
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  16. 16
    BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak Syndrome.

    BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak Syndrome. by 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

    Published 2020
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  17. 17
    The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences

    The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences by 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.

    Published 2022
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  18. 18
    New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation

    New evidence of a mitochondrial genetic background paradox: Impact of the J haplogroup on the A3243G mutation by 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

    Published 2008
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  19. 19
    19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference

    19p13 microduplications encompassing NFIX are responsible for intellectual disability, short stature and small head circumference by 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

    Published 2017
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  20. 20
    Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study

    Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multi-centre Study by 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

    Published 2022
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