检索结果 - Joris Andrieux

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  1. 1
    A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/B<i>GNAS</i>and Autosomal Dominant Pseudohypoparathyroidism Type Ib

    A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/B<i>GNAS</i>and Autosomal Dominant Pseudohypoparathyroidism Type Ib 由 Nicolas Richard, Geneviève Abéguilé, Nadia Coudray, Hervé Mittre, Nicolas Gruchy, Joris Andrieux, P. Cathébras, Marie‐Laure Kottler

    出版 2012
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  2. 2
    Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

    Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability 由 Reza Asadollahi, Beatrice Oneda, Frenny Sheth, Silvia Azzarello‐Burri, Rosa Baldinger, Pascal Joset, Beatrice Latal, Walter Knirsch, Soaham Desai, Alessandra Baumer, Gunnar Houge, Joris Andrieux, Anita Rauch

    出版 2013
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  3. 3
    Disruption and aberrant expression of HMGA2 as a consequence of diverse chromosomal translocations in myeloid malignancies

    Disruption and aberrant expression of HMGA2 as a consequence of diverse chromosomal translocations in myeloid malignancies 由 María D. Odero, Francis Grand, Sameena Iqbal, F. Ross, José P. Román, J.L. Vizmanos, Joris Andrieux, J L Laï, Marı́a José Calasanz, Nicholas C.P. Cross

    出版 2004
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  4. 4
    Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)

    Genotype-phenotype correlation in 21 patients with Wolf-Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH) 由 Nicole Maas, Griet Van Buggenhout, Femke Hannes, Bernard Thienpont, Damien Sanlaville, Klaas Kok, Alina T. Midro, Joris Andrieux, B-M Anderlid, Jacqueline Schoumans, Roel Hordijk, Koenraad Devriendt, JP Fryns, Joris Vermeesch

    出版 2007
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  5. 5
    Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

    Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families 由 Virpi Leppä, Stephanie N. Kravitz, Alastair J. Martin, Joris Andrieux, Cédric Le Caignec, Dominique Martin–Coignard, Christina T. DyBuncio, Stephan Sanders, Jennifer K. Lowe, Rita M. Cantor, Daniel H. Geschwind

    出版 2016
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  6. 6
    The PI3K/AKT Signaling Pathway Controls the Quiescence of the Low-Rhodamine123-Retention Cell Compartment Enriched for Melanoma Stem Cell Activity

    The PI3K/AKT Signaling Pathway Controls the Quiescence of the Low-Rhodamine123-Retention Cell Compartment Enriched for Melanoma Stem Cell Activity 由 Yasmine Touil, Thomas Zuliani, Isabelle Wolowczuk, Klaudia Kuranda, Jiřina Procházková, Joris Andrieux, Hélène Le Roy, Laurent Mortier, Jérôme Vandomme, Nathalie Jouy, Bernadette Masselot, Pascaline Ségard, Bruno Quesnel, Pierre Formstecher, Renata Polakowska

    出版 2013
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  7. 7
    Male-Biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders

    Male-Biased Autosomal Effect of 16p13.11 Copy Number Variation in Neurodevelopmental Disorders 由 Maria Tropeano, Joo Wook Ahn, Richard Dobson, Gerome Breen, James Rucker, Abhishek Dixit, Deb K. Pal, Peter McGuffin, Anne Farmer, Peter S. White, Joris Andrieux, Evangelos Vassos, Caroline Mackie Ogilvie, Sarah Curran, David Collier

    出版 2013
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  8. 8
    New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects

    New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects 由 Julie Demars, Sylvie Rossignol, Irène Netchine, Kai Syin Lee, Mansur E Shmela, Laurence Faivre, Jacques Weill, Sylvie Odent, Salah Azzi, Patrick Callier, Josette Lucas, Christèle Dubourg, Joris Andrieux, Yves Le Bouc, Assam El‐Osta, Christine Gicquel

    出版 2011
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  9. 9
    MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations

    MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or ce... 由 Nathalie Le Meur, Muriel Holder‐Espinasse, Sylvie Jaillard, Alice Goldenberg, Sylvie Joriot, Patrizia Amati‐Bonneau, Agnès Guichet, M. Barth, Aude Charollais, Hubert Journel, Stéphane Auvin, Cécile Boucher, Jean Pierre Kerckaert, Véronique David, Sylvie Manouvrier‐Hanu, Pascale Saugier‐Veber, Thierry Frébourg, Christèle Dubourg, Joris Andrieux, Dominique Bonneau

    出版 2009
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  10. 10
    Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases

    Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated cases 由 Caroline Schluth–Bolard, Bruno Delobel, Damien Sanlaville, Odile Boute, Jean‐Marie Cuisset, Sylvie Sukno, Audrey Labalme, Bénédicte Duban‐Bedu, Ghislaine Plessis, Sylvie Jaillard, Christèle Dubourg, Cathérine Henry, Josette Lucas, Sylvie Odent, Laurent Pasquier, Henri Copin, Philippe Latour, Marie‐Pierre Cordier, Gwenaël Nadeau, Marianne Till, Patrick Edery, Joris Andrieux

    出版 2009
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  11. 11
    12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

    12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech 由 Julien Thévenon, Patrick Callier, Joris Andrieux, Bruno Delobel, Albert David, Sylvie Sukno, Delphine Minot, Laure Mosca Anne, Nathalie Marle, Damien Sanlaville, Marlène Bonnet, Alice Masurel‐Paulet, Fabienne Levy, Lorraine Gaunt, Sandra A. Farrell, Cédric Le Caignec, Annick Toutain, Virginie Carmignac, Francine Mugneret, Jill Clayton‐Smith, Christel Thauvin‐Robinet, Laurence Faivre

    出版 2012
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  12. 12
    Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

    Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes 由 Martine Doco‐Fenzy, Camille Leroy, Anouck Schneider, Florence Petit, Marie‐Ange Delrue, Joris Andrieux, Laurence Perrin‐Sabourin, Emilie Landais, Azzedine Aboura, Jacques Puechberty, Manon Girard, Magali Tournaire, Elodie Sanchez, Caroline Rooryck, Agnès Ameil, Michel Goossens, Philippe Jonveaux, Geneviève Lefort, Laurence Taine, Dorothée Cailley, Dominique Gaillard, Bruno Leheup, Pierre Sarda, David Geneviève

    出版 2013
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  13. 13
    Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

    Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases 由 Francesca Novara, Berardo Rinaldi, Sanjay M. Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny M.A. van Ravenswaaij‐Arts, Wilhelmina S. Kerstjens‐Frederikse, Joris Vermeesch, Koenraad Devriendt, Carlos A. Bacino, Andrée Delahaye‐Duriez, Saskia M. Maas, Achille Iolascon, Orsetta Zuffardi

    出版 2017
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  14. 14
    Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

    Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability 由 Marjolein H. Willemsen, Astrid Vallès, Laurens A. M. H. Kirkels, Mathilde Mastebroek, Nikkie Olde Loohuis, Aron Kos, W.M. Wissink-Lindhout, Arjan P.M. de Brouwer, Willy M. Nillesen, Rolph Pfundt, Muriel Holder‐Espinasse, Louis Vallée, Joris Andrieux, Marjolein C. Coppens‐Hofman, Hanneke Rensen, Ben C.J. Hamel, Hans van Bokhoven, Armaz Aschrafi, Tjitske Kleefstra

    出版 2011
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  15. 15
    Microdeletions of<i>ELP4</i>Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation

    Microdeletions of<i>ELP4</i>Are Associated with Language Impairment, Autism Spectrum Disorder, and Mental Retardation 由 Laura Addis, Joo Wook Ahn, Richard Dobson, Abhishek Dixit, Caroline Mackie Ogilvie, Dalila Pinto, Andrea K. Vaags, Hilary Coon, Pauline Chaste, Scott G. Wilson, Jeremy Parr, Joris Andrieux, Bruno Lenne, Zeynep Tümer, Vincenzo Leuzzi, Kristina Aubell, Hannele Koillinen, Sarah Curran, Christian R. Marshall, Stephen W. Scherer, Lisa J. Strug, David Collier, Deb K. Pal

    出版 2015
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  16. 16
    Chromosomal aberrations and their prognostic value in a series of 174 untreated patients with Waldenstrom's macroglobulinemia

    Chromosomal aberrations and their prognostic value in a series of 174 untreated patients with Waldenstrom's macroglobulinemia 由 Florence Nguyen‐Khac, Jérôme Lambert, Élise Chapiro, Aurore Grelier, Sarah Mould, Carole Barin, Agnès Daudignon, Nathalie Gachard, Stéphanie Struski, Cathérine Henry, Dominique Penther, Hossein Mossafa, Joris Andrieux, Virginie Éclache, C Bilhou-Nabéra, Isabelle Luquet, Christine Terré, Laurence Baranger, Francine Mugneret, Jean Chiésa, Julien Mozziconacci, Evelyne Callet‐Bauchu, Lauren Véronèse, Hélène Blons, R. G. Owen, Julie Lejeune, Sylvie Chevret, Hélène Merle‐Béral, V. Leblond

    出版 2012
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  17. 17
    TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons

    TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons 由 Xavier Caubit, Paolo Gubellini, Joris Andrieux, Pierre L. Roubertoux, Mehdi Metwaly, Bernard Jacq, Ahmed Fatmi, Laurence Had‐Aissouni, Kenneth Y. Kwan, Pascal Salin, Michèle Carlier, Agne Liedén, Eva Rudd, Marwan Shinawi, Catherine Vincent‐Delorme, J. Cuisset, Marie Pierre Lemaitre, Fatimetou Abderrehamane, Bénédicte Duban, Jean François Lemaitre, Adrian S. Woolf, Detlef Böckenhauer, Dany Séverac, Emeric Dubois, Ying Zhu, Nenad Šestan, Alistair N. Garratt, Lydia Kerkerian‐Le Goff, Laurent Fasano

    出版 2016
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  18. 18
    Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

    Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech 由 Céline Bonnet, Joris Andrieux, Mylène Béri‐Dexheimer, B. Leheup, O. Boute, S. Manouvrier, B Delobel, H. Copin, Aline Receveur, M Mathieu, G. Thiriez, C. Le Caignec, A. David, M. C. de Blois, Valérie Malan, Anne Philippe, Valérie Cormier‐Daire, Laurence Colleaux, E. Flori, Hélène Dollfus, V. Pelletier, Christel Thauvin‐Robinet, A. Masurel-Paulet, L. Faivre, Marc Tardieu, Nadia Bahi‐Buisson, Patrick Callier, Francine Mugneret, Patrick Edery, Philippe Jonveaux, Damien Sanlaville

    出版 2010
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  19. 19
    Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes

    Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes 由 Maria Nicla Loviglio, Marion Leleu, Katrin Männik, Marzia Passeggeri, Giuliana Giannuzzi, Inge van der Werf, Sebastian M. Waszak, Marianna Zazhytska, I Roberts-Caldeira, Nele Gheldof, Eugenia Migliavacca, Ali Abdullah Alfaiz, Loyse Hippolyte, Anne Maillard, Anke Van Dijck, R. Frank Kooy, Damien Sanlaville, Jill A. Rosenfeld, Lisa G. Shaffer, Joris Andrieux, C. Marshall, Stephen W. Scherer, Yiping Shen, James F. Gusella, U. Thorsteinsdottir, Guðmar Þorleifsson, Emmanouil T. Dermitzakis, Bart Deplancke, J. Beckmann, Jacques Rougemont, Sébastien Jacquemont, Alexandre Reymond

    出版 2016
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  20. 20
    A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

    A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology 由 Eugenia Migliavacca, Christelle Golzio, Katrin Männik, Ian Blumenthal, Edwin C. Oh, Louise Harewood, Jack A. Kosmicki, Maria Nicla Loviglio, Giuliana Giannuzzi, Loyse Hippolyte, Anne Maillard, Ali Abdullah Alfaiz, Mieke M. van Haelst, Joris Andrieux, James F. Gusella, Mark J. Daly, J. Beckmann, Sébastien Jacquemont, Michael E. Talkowski, Nicholas Katsanis, Alexandre Reymond, Eugenia Migliavacca, Katrin Männik, Louise Harewood, Maria Nicla Loviglio, Robert M. Witwicki, Gérard Didelot, Ilse van der Werf, Ali Abdullah Alfaiz, Marianna Zazhytska, Giuliana Giannuzzi, Jacqueline Chrast, Aurélien Macé, Sven Bergmann, Zoltán Kutalik, Loyse Hippolyte, Anne Maillard, Vanessa Siffredi, Flore Zufferey, Danielle Martinet, Frédérique Béna, Anita Rauch, Sonia Bouquillon, Joris Andrieux, Bruno Delobel, Odile Boute, Bénédicte Duban‐Bedu, Cédric Le Caignec, Bertrand Isidor, Jean Chiésa, Boris Keren, Brigitte Gilbert‐Dussardier, Renaud Touraine, Dominique Campion, Caroline Rooryck, Michèle Mathieu‐Dramard, Ghislaine Plessis, R. Frank Kooy, Hilde Peeters, Katrin Õunap, Anneke T. Vulto‐van Silfhout, Bert Ba de Vries, Ellen van Binsbergen, Mieke M. van Haelst, Ann Nordgren, Mafalda Mucciolo, Alessandra Renieri, Evica Rajcan‐Separovic, John A. Philipps, Richard J. Ellis, J. Beckmann, Sébastien Jacquemont, Alexandre Reymond

    出版 2015
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