Resultados de búsqueda - Amélie Piton

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  1. 1
    XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

    XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing por Amélie Piton, Claire Redin, Jean‐Louis Mandel

    Publicado 2013
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  2. 2
    Gene and Protein Characterization of the Human Glutathione S-Transferase Kappa and Evidence for a Peroxisomal Localization

    Gene and Protein Characterization of the Human Glutathione S-Transferase Kappa and Evidence for a Peroxisomal Localization por Fabrice Morel, Claudine Rauch, Elise Petit, Amélie Piton, Nathalie Théret, Brian Coles, André Guillouzo

    Publicado 2004
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  3. 3
    AnnotSV: an integrated tool for structural variations annotation

    AnnotSV: an integrated tool for structural variations annotation por Véronique Geoffroy, Yvan Herenger, Arnaud Kress, Corinne Stoetzel, Amélie Piton, Hélène Dollfus, Jean Muller

    Publicado 2018
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  4. 4
    Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals

    Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals por Amélie Piton, Loubna Jouan, Daniel Rochefort, Sylvia Dobrzeniecka, Karine Lachapelle, Patrick A. Dion, Julie Gauthier, Guy A. Rouleau

    Publicado 2012
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  5. 5
    VaRank: a simple and powerful tool for ranking genetic variants

    VaRank: a simple and powerful tool for ranking genetic variants por Véronique Geoffroy, Cécile Pizot, Claire Redin, Amélie Piton, Nasim Vasli, Corinne Stoetzel, André Blavier, Jocelyn Laporte, Jean Muller

    Publicado 2015
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  6. 6
    Exome sequencing reveals a nonsense mutation in<i>TEX15</i>causing spermatogenic failure in a Turkish family

    Exome sequencing reveals a nonsense mutation in<i>TEX15</i>causing spermatogenic failure in a Turkish family por Özlem Okutman, Jean Muller, Yoni Baert, Münevver Serdarogullari, Meral Gültomruk, Amélie Piton, Charlotte Rombaut, Moncef Benkhalifa, Marius Teletin, Valerie Skory, Emre Bakırcıoğlu, Ellen Goossens, Mustafa Bahçeci, Stéphane Viville

    Publicado 2015
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  7. 7
    Points to consider for laboratories reporting results from diagnostic genomic sequencing

    Points to consider for laboratories reporting results from diagnostic genomic sequencing por Danya F. Vears, Karine Sénécal, Angus Clarke, Leigh Jackson, Anne‐Marie Laberge, Luca Lovrečić, Amélie Piton, Koen L.I. van Gassen, Helger G. Yntema, Bartha Maria Knoppers, Pascal Borry

    Publicado 2017
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  8. 8
    SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth

    SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth por Anna Corradi, Manuela Fadda, Amélie Piton, Lysanne Patry, Antonella Marte, Pia Rossi, Maxime Cadieux‐Dion, Julie Gauthier, Line Lapointe, Laurent Mottron, Flavia Valtorta, Guy A. Rouleau, Anna Fassio, Fabio Benfenati, Patrick Cossette

    Publicado 2013
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  9. 9
    A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders

    A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders por Anjené Addington, J Gauthier, Amélie Piton, Fadi F. Hamdan, A Raymond, Nitin Gogtay, Rachel Miller, Julia W. Tossell, Jennifer L. Bakalar, G Germain, Peter Gochman, R Long, Judith L. Rapoport, Guy A. Rouleau

    Publicado 2010
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  10. 10
    Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment

    Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment por Angélique Quartier, Jérémie Courraud, Thuong Ha, George McGillivray, Bertrand Isidor, Katherine Rose, Nathalie Drouot, Marie‐Armel Savidan, Claire Feger, Hélène Jagline, Jamel Chelly, Marie Shaw, Frédéric Laumonnier, Jozef Gécz, Jean‐Louis Mandel, Amélie Piton

    Publicado 2019
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  11. 11
    Sex-specific impact of prenatal androgens on social brain default mode subsystems

    Sex-specific impact of prenatal androgens on social brain default mode subsystems por Michael Lombardo, Bonnie Auyeung, Tiziano Pramparo, Angélique Quartier, Jérémie Courraud, Rosemary Holt, Jack Waldman, Amber Ruigrok, Natasha Mooney, Richard A.I. Bethlehem, Meng‐Chuan Lai, Prantik Kundu, Edward T. Bullmore, Jean‐Louis Mandel, Amélie Piton, Simon Baron‐Cohen

    Publicado 2018
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  12. 12
    Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

    Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis por Francesca Mattioli, Élise Schaefer, Alex Magee, Paul R. Mark, Grazia M.S. Mancini, Klaus Dieterich, Gretchen Von Allmen, Mariëlle Alders, Charles Coutton, Marjon van Slegtenhorst, Gaëlle Vieville, Marc Engelen, Jan Maarten Cobben, Jane Juusola, Aurora Pujol, Jean‐Louis Mandel, Amélie Piton

    Publicado 2016
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  13. 13
    MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

    MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus por Patricia Blanchet, Martina Bebin, Shaam Bruet, Gregory M. Cooper, Michelle L. Thompson, Bénédicte Duban‐Bedu, Bénédicte Gerard, Amélie Piton, Sylvie Suckno, Charu Deshpande, Virginia Clowes, Julie Vogt, Peter D. Turnpenny, Michael P. Williamson, Yves Alembik, Eric Glasgow, Alisdair McNeill

    Publicado 2017
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  14. 14
    Natural History and Phenotypic Spectrum of <scp>GAA‐<i>FGF14</i></scp> Sporadic Late‐Onset Cerebellar Ataxia (<scp>SCA27B</scp>)

    Natural History and Phenotypic Spectrum of <scp>GAA‐<i>FGF14</i></scp> Sporadic Late‐Onset Cerebellar Ataxia (<scp>SCA27B</scp>) por Thomas Wirth, Guillemette Clément, Clarisse Delvallée, Céline Bonnet, Thomas Bogdan, Andra Iosif, Audrey Schalk, Jean‐Baptiste Chanson, David Pellerin, Bernard Brais, Virginie Roth, Marion Wandzel, Marie‐Céline Fleury, Amélie Piton, Nadège Calmels, Izzie Jacques Namer, Stéphane Kremer, Christine Tranchant, M. Renaud, Mathieu Anheim

    Publicado 2023
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  15. 15
    De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment

    De Novo Mutations in FOXP1 in Cases with Intellectual Disability, Autism, and Language Impairment por Fadi F. Hamdan, Hussein Daoud, Daniel Rochefort, Amélie Piton, Julie Gauthier, Mathieu Langlois, Gila Foomani, Sylvia Dobrzeniecka, Marie‐Odile Krebs, Ridha Joober, Ronald G. Lafrenière, Jean‐Claude Lacaille, Laurent Mottron, Pierre Drapeau, Miriam H. Beauchamp, Michael Phillips, Éric Fombonne, Guy A. Rouleau, Jacques L. Michaud

    Publicado 2010
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  16. 16
    Mutations in the calcium-related gene IL1RAPL1 are associated with autism

    Mutations in the calcium-related gene IL1RAPL1 are associated with autism por Amélie Piton, Jacques L. Michaud, Boon‐Peng Hoh, Swaroop Aradhya, J Gauthier, Laurent Mottron, Nathalie Champagne, Ronald G. Lafrenière, Fadi F. Hamdan, Ridha Joober, Éric Fombonne, Claude Marineau, Patrick Cossette, Marie‐Pierre Dubé, Parviz Haghighi, Pierre Drapeau, Philip A. Barker, S. Carbonetto, Guy A. Rouleau

    Publicado 2008
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  17. 17
    SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function

    SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function por Anna Fassio, Lysanne Patry, Sonia Congia, Franco Onofri, Amélie Piton, Julie Gauthier, Davide Pozzi, Mirko Messa, Enrico Defranchi, Manuela Fadda, Anna Corradi, Pietro Baldelli, Line Lapointe, Judith St‐Onge, Caroline Meloche, Laurent Mottron, Flavia Valtorta, Dang Khoa Nguyen, Guy A. Rouleau, Fabio Benfenati, Patrick Cossette

    Publicado 2011
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  18. 18
    A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing

    A Population Genetic Approach to Mapping Neurological Disorder Genes Using Deep Resequencing por Rachel A. Myers, Ferrán Casals, Julie Gauthier, Fadi F. Hamdan, Jon Keebler, Adam R. Boyko, Carlos D. Bustamante, Amélie Piton, Dan Spiegelman, Édouard Henrion, Martine Zilversmit, Julie Hussin, Jacklyn Quinlan, Yanlian Yang, Ronald G. Lafrenière, Alexander R. Griffing, Eric A. Stone, Guy A. Rouleau, Philip Awadalla

    Publicado 2011
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  19. 19
    20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

    20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition por Amélie Piton, Hélène Poquet, Claire Redin, Alice Masurel, Julia Lauer, Jean Muller, Julien Thévenon, Yvan Herenger, Sophie Chancenotte, Marlène Bonnet, Jean‐Michel Pinoit, Frédéric Huet, Christel Thauvin‐Robinet, Anne-Sophie Jaeger, Stéphanie Le Gras, Bernard Jost, Bénédicte Gérard, Katell Peoc’h, Jean‐Marie Launay, Laurence Faivre, Jean‐Louis Mandel

    Publicado 2013
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  20. 20
    Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

    Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A por Lucas Bronicki, Claire Redin, Séverine Drunat, Amélie Piton, Michael J. Lyons, Sandrine Passemard, Clarisse Baumann, Laurence Faivre, Julien Thévenon, Jean‐Baptiste Rivière, Bertrand Isidor, Grace Gan, Christine Francannet, Marjolaine Willems, Murat Günel, Julie R. Jones, Joseph G. Gleeson, Jean‐Louis Mandel, Roger E. Stevenson, Michael J. Friez, Arthur S. Aylsworth

    Publicado 2015
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