Canlyniadau Chwilio - Jean‐Baptiste Rivière

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  1. 1
    Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder

    Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder gan Deidre R. Krupp, Rebecca Barnard, Yannis Duffourd, Sara Evans-Dutson, Ryan M. Mulqueen, Raphael Bernier, Jean‐Baptiste Rivière, Éric Fombonne, Brian J. O’Roak

    Cyhoeddwyd 2017
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  2. 2
    Next-Generation Sequencing of Nevus Spilus–Type Congenital Melanocytic Nevus: Exquisite Genotype–Phenotype Correlation in Mosaic RASopathies

    Next-Generation Sequencing of Nevus Spilus–Type Congenital Melanocytic Nevus: Exquisite Genotype–Phenotype Correlation in Mosaic RASopathies gan Veronica A. Kinsler, Sven Krengel, Jean‐Baptiste Rivière, Regula Waelchli, Carolina Chapusot, Lara Al-Olabi, Laurence Faivre, Holger A. Haenssle, Lisa Weibel, G. Jeudy, P. Vabres

    Cyhoeddwyd 2014
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  3. 3
    Mutations in the nervous system–specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II

    Mutations in the nervous system–specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II gan Masoud Shekarabi, Nathalie Girard, Jean‐Baptiste Rivière, Patrick A. Dion, Martin Houle, André Toulouse, Ronald G. Lafrenière, F. Vercauteren, Pascale Hince, Janet Laganière, Daniel Rochefort, Laurence Faivre, Mark Samuels, Guy A. Rouleau

    Cyhoeddwyd 2008
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  4. 4
    MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels

    MEIS1 intronic risk haplotype associated with restless legs syndrome affects its mRNA and protein expression levels gan Lan Xiong, Hélène Catoire, Patrick A. Dion, Cláudia Gaspar, Ronald G. Lafrenière, Simon Girard, Аnastasia Levchenko, Jean‐Baptiste Rivière, Laura M. Fiori, Judith St‐Onge, Isabelle Bachand, Pascale Thibodeau, Richard P. Allen, Christopher J. Earley, Gustavo Turecki, Jacques Montplaisir, Guy A. Rouleau

    Cyhoeddwyd 2009
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  5. 5
    Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria

    Both Rare and De Novo Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria gan Samin A. Sajan, Liliana Fernández, Sahar Esmaeeli Nieh, Eric Rider, Polina Bukshpun, Mari Wakahiro, Susan L. Christian, Jean‐Baptiste Rivière, Christopher T. Sullivan, Jyotsna Sudi, Michael J. Herriges, Alexander Paciorkowski, A. James Barkovich, Joseph Glessner, Kathleen J. Millen, Hákon Hákonarson, William B. Dobyns, Elliott H. Sherr

    Cyhoeddwyd 2013
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  6. 6
    PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia

    PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia gan Laura A. Jansen, Ghayda Mirzaa, Gisele E. Ishak, Brian J. O’Roak, Joseph B. Hiatt, William H. Roden, Sonya A. Gunter, Susan L. Christian, Sarah Collins, Carissa Adams, Jean‐Baptiste Rivière, Judith St‐Onge, Jeffrey G. Ojemann, Jay Shendure, Robert F. Hevner, William B. Dobyns

    Cyhoeddwyd 2015
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  7. 7
    Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals

    Defining the Genetic Landscape of Congenital Mirror Movements in 80 Affected Individuals gan Meagan Collins, Judith St‐Onge, Sabrina Schlienger, Nassima Boudrahem‐Addour, Lina Mougharbel, J. Michaud, Clara Frances Lloyd, Elena Bruneau, Cedric Roux, Ahmed N. Sahly, Bradley Osterman, Kenneth A. Myers, Guy A. Rouleau, Daniel Alexander Jimenez Cruz, Jean‐Baptiste Rivière, Andrea Accogli, Frédéric Charron, Myriam Srour

    Cyhoeddwyd 2024
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  8. 8
    Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma

    Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma gan Jean- Benoît Courcet, Siham Chafai Elalaoui, Laurence Duplomb, Mariam Tajir, Jean‐Baptiste Rivière, Julien Thévenon, Nadège Gigot, Nathalie Marle, Bernard Aral, Yannis Duffourd, Alain Sarasin, Valeria Naim, Emilie Courcet-Degrolard, Marie Hélène Aubriot-Lorton, Laurent Martin, Jamal Eddin Abrid, Christel Thauvin, Abdelaziz Sefiani, P. Vabres, Laurence Faivre

    Cyhoeddwyd 2014
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  9. 9
    MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone

    MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone gan Chunmei Li, Victor L. Jensen, Kwangjin Park, Julie Kennedy, Francesc R. García-Gonzalo, Marta Romani, Roberta De Mori, Ange-Line Bruel, Dominique Gaillard, Bérénice Doray, Estelle Lopez, Jean‐Baptiste Rivière, Laurence Faivre, Christel Thauvin‐Robinet, Jeremy F. Reiter, Oliver E. Blacque, Enza Maria Valente, Michel R. Leroux

    Cyhoeddwyd 2016
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  10. 10
    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 gan 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

    Cyhoeddwyd 2015
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  11. 11
    OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome

    OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome gan Véronique Chevrier, Ange‐Line Bruel, Teunis J. P. van Dam, Brunella Franco, Melissa Lo Scalzo, Frédérique Lembo, Stéphane Audebert, Emilie Baudelet, Daniel Isnardon, Angélique Bôle, Jean‐Paul Borg, Paul Kuentz, Julien Thévenon, Lydie Bürglen, Laurence Faivre, Jean‐Baptiste Rivière, Martijn A. Huynen, Daniel Birnbaum, Olivier Rosnet, Christel Thauvin‐Robinet

    Cyhoeddwyd 2015
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  12. 12
    Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

    Bainbridge–Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition gan Alma Kuechler, Johanna Christina Czeschik, Elisabeth Graf, Ute Grasshoff, Ulrike Hüffmeier, Tiffany Busa, Stefanie Beck‐Woedl, Laurence Faivre, Jean-Baptiste Rivière, Ingrid Bader, Johannes Koch, André Reis, Ute Hehr, Olaf Rittinger, Wolfgang Sperl, Tobias B. Haack, Thomas Wieland, Hartmut Engels, Holger Prokisch, Tim M. Strom, Hermann‐Josef Lüdecke, Dagmar Wieczorek

    Cyhoeddwyd 2016
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  13. 13
    Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

    Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly gan Nataliya Di Donato, Andrew E. Timms, Kimberly A. Aldinger, Ghayda Mirzaa, James T. Bennett, Sarah Collins, Carissa Olds, Davide Mei, Sara Chiari, Gemma L. Carvill, Candace T. Myers, Jean‐Baptiste Rivière, Maha S. Zaki, Joseph G. Gleeson, Andreas Rump, Valerio Conti, Elena Parrini, M. Elizabeth Ross, David H. Ledbetter, Renzo Guerrini, William B. Dobyns

    Cyhoeddwyd 2018
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  14. 14
    Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

    Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor gan Nancy D. Merner, Simon Girard, Hélène Catoire, Cynthia V. Bourassa, Véronique Belzil, Jean‐Baptiste Rivière, Pascale Hince, Annie Levert, Alexandre Dionne‐Laporte, Dan Spiegelman, Anne Noreau, Sabrina Diab, Anna Szuto, Hélène Fournier, John Raelson, Majid Belouchi, Michel Panisset, Patrick Cossette, Nicolas Dupré, Geneviève Bernard, Sylvain Chouinard, Patrick A. Dion, Guy A. Rouleau

    Cyhoeddwyd 2012
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  15. 15
    KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2

    KIF1A, an Axonal Transporter of Synaptic Vesicles, Is Mutated in Hereditary Sensory and Autonomic Neuropathy Type 2 gan Jean‐Baptiste Rivière, Siriram Ramalingam, Valérie Lavastre, Masoud Shekarabi, Sébastien Holbert, Julie Lafontaine, Myriam Srour, Nancy D. Merner, Daniel Rochefort, Pascale Hince, Rébecca Gaudet, Anne‐Marie Mes‐Masson, Jonathan Baets, Henry Houlden, Bernard Brais, Garth A. Nicholson, Hilde Van Esch, Shahriar Nafissi, Peter De Jonghe, Mary M. Reilly, Vincent Timmerman, Patrick A. Dion, Guy A. Rouleau

    Cyhoeddwyd 2011
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  16. 16
    Cohen syndrome is associated with major glycosylation defects

    Cohen syndrome is associated with major glycosylation defects gan Laurence Duplomb, Sandrine Duvet, Damien Picot, Gaëtan Jégo, Salima El Chehadeh-Djebbar, Nathalie Marle, Nadège Gigot, Bernard Aral, Virginie Carmignac, Julien Thévenon, Estelle Lopez, Jean‐Baptiste Rivière, André Klein, Christophe Philippe, Nathalie Droin, Edward Blair, François Girodon, Jean Donadieu, Christine Bellanné‐Chantelot, Laurent Delva, Jean‐Claude Michalski, Éric Solary, Laurence Faivre, François Foulquier, Christel Thauvin‐Robinet

    Cyhoeddwyd 2013
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  17. 17
    Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis

    Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis gan Anna Thomas, Zhiqiang Zeng, Jean‐Baptiste Rivière, Ryan F.L. O’Shaughnessy, Lara Al-Olabi, Judith St.-Onge, David J. Atherton, H. Aubert, Lorea Bagazgoitia, S. Barbarot, E. Bourrat, C. Chiavérini, W.K. Chong, Yannis Duffourd, Mary Glover, Leopold Groesser, S. Hadj‐Rabia, Henning Hamm, Rudolf Happle, Imran Mushtaq, J.‐P. Lacour, Regula Waelchli, Marion Wobser, P. Vabres, E. Elizabeth Patton, Veronica A. Kinsler

    Cyhoeddwyd 2016
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  18. 18
    Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

    Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis gan Sophie Nambot, Julien Thévenon, Paul Kuentz, Yannis Duffourd, Émilie Tisserant, Ange‐Line Bruel, Anne‐Laure Mosca‐Boidron, Alice Masurel‐Paulet, Daphné Lehalle, Nolwenn Jean‐Marçais, Mathilde Lefebvre, P. Vabres, Salima El Chehadeh-Djebbar, Christophe Philippe, Frédéric Tran Mau‐Them, Judith St‐Onge, Thibaud Jouan, Martin Chevarin, Charlotte Pöe, Virginie Carmignac, Antonio Vitobello, Patrick Callier, Jean‐Baptiste Rivière, Laurence Faivre, Christel Thauvin‐Robinet

    Cyhoeddwyd 2017
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  19. 19
    PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy

    PIK3R1 Mutations Cause Syndromic Insulin Resistance with Lipoatrophy gan Christel Thauvin‐Robinet, Martine Auclair, Laurence Duplomb, Martine Caron-Debarle, Magali Avila, Judith St‐Onge, Martine Le Merrer, Bernard Le Luyer, Delphine Héron, Michèle Mathieu‐Dramard, Pierre Bitoun, Jean‐Michel Petit, Sylvie Odent, Jeanne Amiel, Damien Picot, Virginie Carmignac, Julien Thévenon, Patrick Callier, Martine Laville, Yves Reznik, C. Fagour, Marie‐Laure Nunes, Jacqueline Capeau, Olivier Lascols, Frédéric Huet, Laurence Bonhomme‐Faivre, Corinne Vigouroux, Jean-Baptiste Rivière

    Cyhoeddwyd 2013
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  20. 20
    TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome

    TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome gan Nils J. Lambacher, Ange‐Line Bruel, Teunis J. P. van Dam, Katarzyna Szymańska, Gisela G. Slaats, Stefanie Kuhns, Gavin McManus, Julie Kennedy, Karl Gaff, Ka Man Wu, Robin van der Lee, Lydie Bürglen, Diane Doummar, Jean‐Baptiste Rivière, Laurence Faivre, Tania Attié‐Bitach, Sophie Saunier, Alistair Curd, Michelle Peckham, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Christel Thauvin‐Robinet, Oliver E. Blacque

    Cyhoeddwyd 2015
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