Søgeresultater - Jacques L Michaud

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  1. 1
    In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis

    In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of p... af Jacques L. Michaud

    Udgivet 2002
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    Artigo
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  2. 2
    Expression of the mouse Gli and Ptc genes is adjacent to embryonic sources of hedgehog signals suggesting a conservation of pathways between flies and mice

    Expression of the mouse Gli and Ptc genes is adjacent to embryonic sources of hedgehog signals suggesting a conservation of pathways between flies and mice af Kenneth A. Platt, Jacques L. Michaud, Alexandra L. Joyner

    Udgivet 1997
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    Artigo
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  3. 3
    Development of neuroendocrine lineages requires the bHLH–PAS transcription factor SIM1

    Development of neuroendocrine lineages requires the bHLH–PAS transcription factor SIM1 af Jacques L. Michaud, Thomas A. Rosenquist, Noah May, Chen‐Ming Fan

    Udgivet 1998
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    Artigo
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  4. 4
    ARNT2 acts as the dimerization partner of SIM1 for the development of the hypothalamus

    ARNT2 acts as the dimerization partner of SIM1 for the development of the hypothalamus af Jacques L. Michaud, Charles DeRossi, Noah May, Bernadette C. Holdener, Chen‐Ming Fan

    Udgivet 2000
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    Artigo
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  5. 5
    Population history and its impact on medical genetics in Quebec

    Population history and its impact on medical genetics in Quebec af A‐M Laberge, Jacques L. Michaud, Andréa Richter, Emmanuelle Lemyre, M Lambert, Bernard Brais, GA Mitchell

    Udgivet 2005
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    Revisão
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  6. 6
    Progressive impairment of developing neuroendocrine cell lineages in the hypothalamus of mice lacking the Orthopedia gene

    Progressive impairment of developing neuroendocrine cell lineages in the hypothalamus of mice lacking the Orthopedia gene af Dario Acampora, Maria Pia Postiglione, Virginia Avantaggiato, M. Di Bonito, Flora M. Vaccarino, Jacques L. Michaud, Antonio Simeone

    Udgivet 1999
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    Artigo
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  7. 7
    Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus

    Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus af Carlos Dombret, Tuan Huy Nguyen, Olivier Schakman, Jacques L. Michaud, Hélène Hardin‐Pouzet, Mathieu J.M. Bertrand, Olivier De Backer

    Udgivet 2012
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    Artigo
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  8. 8
    A Gain-of-Function Mutation in<i>NALCN</i>in a Child with Intellectual Disability, Ataxia, and Arthrogryposis

    A Gain-of-Function Mutation in<i>NALCN</i>in a Child with Intellectual Disability, Ataxia, and Arthrogryposis af Kyota Aoyagi, Elsa Rossignol, Fadi F. Hamdan, Ben Mulcahy, Lin Xie, Shinya Nagamatsu, Guy A. Rouleau, Mei Zhen, Jacques L. Michaud

    Udgivet 2015
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    Artigo
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  9. 9
    A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis

    A Missense Mutation (R565W) in Cirhin (FLJ14728) in North American Indian Childhood Cirrhosis af Pierre Chagnon, Jacques L. Michaud, Grant A. Mitchell, Jocelyne Mercier, Jean-François Marion, Éric Drouin, Andrée Rasquin‐Weber, Thomas J. Hudson, Andréa Richter

    Udgivet 2002
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    Artigo
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  10. 10
    Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.

    Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences. af Larry Brody, Grant A. Mitchell, Cassandra Obie, Jacques L. Michaud, Gary Steel, G Fontaine, M.F. Robert, Ilkka Sipilä, Muriel I. Kaiser‐Kupfer, David Valle

    Udgivet 1992
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    Artigo
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  11. 11
    A homozygous mutation in <i><scp>SLC1A4</scp></i> in siblings with severe intellectual disability and microcephaly

    A homozygous mutation in <i><scp>SLC1A4</scp></i> in siblings with severe intellectual disability and microcephaly af Myriam Srour, Fadi F. Hamdan, Ziv Gan‐Or, D. Labuda, Christina Nassif, Maryam Oskoui, Mali Gana‐Weisz, Avi Orr‐Urtreger, Guy A. Rouleau, Jacques L. Michaud

    Udgivet 2015
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    Artigo
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  12. 12
    Intellectual disability without epilepsy associated with STXBP1 disruption

    Intellectual disability without epilepsy associated with STXBP1 disruption af Fadi F. Hamdan, Julie Gauthier, Sylvia Dobrzeniecka, Anne Lortie, Laurent Mottron, Michel Vanasse, Guy D’Anjou, Jean Claude Lacaille, Guy A. Rouleau, Jacques L. Michaud

    Udgivet 2011
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  13. 13
    The genetic landscape of infantile spasms

    The genetic landscape of infantile spasms af Jacques L. Michaud, Mathieu Lachance, Fadi F. Hamdan, Lionel Carmant, Anne Lortie, Paola Diadori, Philippe Major, Inge A. Meijer, Emmanuelle Lemyre, Patrick Cossette, Heather C. Mefford, Guy A. Rouleau, Elsa Rossignol

    Udgivet 2014
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    Artigo
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  14. 14
    Identification and Biochemical Characterization of a Novel Mutation in<i>DDX11</i>Causing Warsaw Breakage Syndrome

    Identification and Biochemical Characterization of a Novel Mutation in<i>DDX11</i>Causing Warsaw Breakage Syndrome af José‐Mario Capo‐Chichi, Sanjay Kumar Bharti, Joshua A. Sommers, Tony Yammine, Éliane Chouery, Lysanne Patry, Guy A. Rouleau, Mark Samuels, Fadi F. Hamdan, Jacques L. Michaud, Robert Brosh, André Mégarbané, Zoha Kibar

    Udgivet 2012
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    Artigo
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  15. 15
    Identification of Novel Mutations Confirms<i>Pde4d</i>as a Major Gene Causing Acrodysostosis

    Identification of Novel Mutations Confirms<i>Pde4d</i>as a Major Gene Causing Acrodysostosis af Danielle C. Lynch, David A. Dyment, Lijia Huang, Sarah M. Nikkel, Didier Lacombe, Philippe M. Campeau, Brendan Lee, Carlos A. Bacino, Jacques L. Michaud, François Bernier, FORGE Canada Consortium, Jillian S. Parboosingh, A. Micheil Innes

    Udgivet 2012
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    Artigo
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  16. 16
    Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

    Mutations in NOTCH2 in families with Hajdu-Cheney syndrome af Jacek Majewski, Jeremy Schwartzentruber, Aurore Caqueret, Lysanne Patry, Janet Marcadier, Jean‐Pierre Fryns, Kym M. Boycott, Louis‐Georges Ste‐Marie, Fergus E. McKiernan, Ivo Mařík, Hilde Van Esch, Jacques L. Michaud, Mark E. Samuels

    Udgivet 2011
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    Artigo
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  17. 17
    Loss-of-function de novo mutations play an important role in severe human neural tube defects

    Loss-of-function de novo mutations play an important role in severe human neural tube defects af Philippe Lemay, Marie-Claude Guyot, Élizabeth Tremblay, Alexandre Dionne‐Laporte, Dan Spiegelman, Édouard Henrion, Ousmane Diallo, Patrizia De Marco, Elisa Merello, Christine Massicotte, Valérie Désilets, Jacques L. Michaud, Guy A. Rouleau, Valeria Capra, Zoha Kibar

    Udgivet 2015
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    Artigo
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  18. 18
    A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome

    A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome af Julie Gauthier, Bouchra Ouled Amar Bencheikh, Fadi F. Hamdan, Steven M. Harrison, Linda A. Baker, Françoise Couture, Isabelle Thiffault, Réda Ouazzani, Mark E. Samuels, Grant A. Mitchell, Guy A. Rouleau, Jacques L. Michaud, J.‐F. Soucy

    Udgivet 2014
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    Artigo
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  19. 19
    Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia

    Recessive and Dominant Mutations in Retinoic Acid Receptor Beta in Cases with Microphthalmia and Diaphragmatic Hernia af Myriam Srour, David Chitayat, Véronique Caron, Nicolas Chassaing, Pierre Bitoun, Lysanne Patry, Marie‐Pierre Cordier, José‐Mario Capo‐Chichi, Christine Francannet, Patrick Calvas, Nicola Ragge, Sylvia Dobrzeniecka, Fadi F. Hamdan, Guy A. Rouleau, André Tremblay, Jacques L. Michaud

    Udgivet 2013
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  20. 20
    Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies

    Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies af Rama Rao Damerla, Cheng Cui, George C. Gabriel, Xiaoqin Liu, Branch Craige, Brian Gibbs, Richard Francis, You Li, Bishwanath Chatterjee, Jovenal T. San Agustin, Thibaut Eguether, Ramiah Subramanian, George B. Witman, Jacques L. Michaud, Gregory J. Pazour, Cecilia Lo

    Udgivet 2015
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