Bilaketaren emaitzak - Laurence Faivre

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  1. 1
    Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype

    Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype nork Laurence Faivre

    Argitaratua 2002
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  2. 2
    Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity

    Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity nork F. Caux, Henri Plauchu, Frédéric Chibon, Laurence Faivre, Olivier Fain, P. Vabres, Françoise Bonnet, Zied Ben Selma, L. Laroche, Marion Gérard, Michel Longy

    Argitaratua 2007
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  3. 3
    ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome

    ADAMTS10 Mutations in Autosomal Recessive Weill-Marchesani Syndrome nork Nathalie Dagoneau, Catherine Benoist-Lasselin, Céline Huber, Laurence Faivre, André Mégarbané, Abdulrahman Alswaid, Hélène Dollfus, Yves Alembik, Arnold Münnich, Laurence Legeai‐Mallet, Valérie Cormier‐Daire

    Argitaratua 2004
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  4. 4
    Familial pulmonary arterial hypertension by <i>KDR</i> heterozygous loss of function

    Familial pulmonary arterial hypertension by <i>KDR</i> heterozygous loss of function nork Mélanie Eyries, David Montani, Barbara Girerd, Nicolas Favrolt, Marianne Riou, Laurence Faivre, Grégoire Manaud, Frédéric Perros, Stefan Gräf, Nicholas W. Morrell, Marc Humbert, Florent Soubrier

    Argitaratua 2020
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  5. 5
    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 nork 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

    Argitaratua 2014
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  6. 6
    The revised ghent nosology; reclassifying isolated ectopia lentis

    The revised ghent nosology; reclassifying isolated ectopia lentis nork Aman Chandra, DK Patel, J.A. Aragon‐Martin, Amélie Pinard, Gwenaëlle Collod‐Béroud, P. Comeglio, Cathérine Boileau, Laurence Faivre, David G. Charteris, Anne H. Child, Gavin Arno

    Argitaratua 2014
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  7. 7
    Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking

    Vps13b is required for acrosome biogenesis through functions in Golgi dynamic and membrane trafficking nork Romain Da Costa, Morgane Bordessoules, Magali Guilleman, Virginie Carmignac, Vincent Lhussiez, Hortense Courot, Amandine Bataille, Amandine Chlémaire, Céline Bruno, Patricia Fauque, Christel Thauvin, Laurence Faivre, Laurence Duplomb

    Argitaratua 2019
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  8. 8
    In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

    In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome nork Laurence Faivre, Robert J. Gorlin, Mary K. Wirtz, Maurice Godfrey, Nathalie Dagoneau, J. R. Samples, Martine Le Merrer, Gwenaëlle Collod‐Béroud, Cathérine Boileau, Arnold Münnich, Valérie Cormier‐Daire

    Argitaratua 2003
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  9. 9
    A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease

    A Major Determinant for Binding and Aminoacylation of tRNAAla in Cytoplasmic Alanyl-tRNA Synthetase Is Mutated in Dominant Axonal Charcot-Marie-Tooth Disease nork Philippe Latour, Christel Thauvin‐Robinet, Chantal Baudelet-Méry, P Soichot, Véronica Cusin, Laurence Faivre, Marie-Claire Locatelli, Martine Mayençon, Annie Sarcey, Emmanuel Broussolle, William Camu, Albert David, Robert Rousson

    Argitaratua 2010
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  10. 10
    Phase I trial of everolimus in combination with thoracic radiotherapy in non-small-cell lung cancer

    Phase I trial of everolimus in combination with thoracic radiotherapy in non-small-cell lung cancer nork Éric Deutsch, C. Le Péchoux, Laurence Faivre, Sofía Rivera, Yungan Tao, Jean‐Pierre Pignon, M. Angokai, Rastilav Bahleda, Désirèe Deandreis, Eric Angevin, C. Hennequin, Benjamin Besse, Antonin Lévy, Jean‐Charles Soria

    Argitaratua 2015
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  11. 11
    Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene

    Hereditary juvenile cobalamin deficiency caused by mutations in the intrinsic factor gene nork Stephan M. Tanner, Zhongyuan Li, James D. Perko, Cihan Öner, Mualla Çetin, Çiğdem Altay, Zekiye Yurtsever, Karen L. David, Laurence Faivre, Essam A. R. Ismail, Ralph Gräsbeck, Albert de la Chapelle

    Argitaratua 2005
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  12. 12
    Distribution ofENG andACVRL1 (ALK1) mutations in French HHT patients

    Distribution ofENG andACVRL1 (ALK1) mutations in French HHT patients nork Gaëtan Lesca, Nelly Burnichon, Grégory Raux, Mario Tosi, S. Pinson, Marie‐Jeanne Marion, E. Babin, Brigitte Gilbert‐Dussardier, Sophie Rivière, Cyril Goizet, Laurence Faivre, Henri Plauchu, Thierry Frébourg, Alain Calender, Sophie Giraud

    Argitaratua 2006
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  13. 13
    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 nork 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

    Argitaratua 2008
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  14. 14
    Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

    Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties nork David Geneviève, Damien Sanlaville, Laurence Faivre, Marie‐Laure Kottler, Marguerite Jambou, Philippe Gosset, Dinane Boustani-Samara, Graziella Pinto, Catherine Ozilou, Geneviève Abéguilé, Arnold Munnich, Serge Romana, O Raoul, Valérie Cormier‐Daire, Michel Vekemans

    Argitaratua 2005
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  15. 15
    Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

    Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene nork Chantal Stheneur, Gwenaëlle Collod‐Béroud, Laurence Faivre, Jean François Buyck, Laurent Gouya, Jean‐Marie Le Parc, Bertrand Moura, Christine Muti, Bernard Grandchamp, G. Sultan, Mireille Claustres, Philippe Aegerter, Bertrand Chevallier, Guillaume Jondeau, Cathérine Boileau

    Argitaratua 2009
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  16. 16
    Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey

    Time to diagnosis and determinants of diagnostic delays of people living with a rare disease: results of a Rare Barometer retrospective patient survey nork Fatoumata Faye, Claudia Crocione, Roberta Anido de Peña, Simona Bellagambi, Luciana Escati Peñaloza, Amy Hunter, Lene Arnett Jensen, Cor Oosterwijk, Eva Schoeters, Daniel de Vicente, Laurence Faivre, Michael Wilbur, Yann Le Cam, Jessie Dubief

    Argitaratua 2024
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  17. 17
    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 nork 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

    Argitaratua 2011
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  18. 18
    The revised Ghent nosology for the Marfan syndrome

    The revised Ghent nosology for the Marfan syndrome nork Bart Loeys, Harry C. Dietz, Alan C. Braverman, Bert Callewaert, Julie De Backer, Richard B. Devereux, Yvonne Hilhorst‐Hofstee, Guillaume Jondeau, Laurence Faivre, Dianna M. Milewicz, Reed E. Pyeritz, Paul D. Sponseller, B P Wordsworth, Anne M. De Paepe

    Argitaratua 2010
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  19. 19
    Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans

    Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans nork Loïc de Pontual, Evelyn Yao, Patrick Callier, Laurence Faivre, Valérie Drouin, Sandra Cariou, Arie van Haeringen, David Geneviève, Alice Goldenberg, Myriam Oufadem, Sylvie Manouvrier, Arnold Münnich, Joana A. Vidigal, Michel Vekemans, Stanislas Lyonnet, Alexandra Henrion‐Caude, Andrea Ventura, Jeanne Amiel

    Argitaratua 2011
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  20. 20
    The<i>FBN2</i>gene: new mutations, locus-specific database (Universal Mutation Database<i>FBN2</i>), and genotype-phenotype correlations

    The<i>FBN2</i>gene: new mutations, locus-specific database (Universal Mutation Database<i>FBN2</i>), and genotype-phenotype correlations nork Melissa Yana Frédéric, Christine Monino, Christoph Marschall, Dalil Hamroun, Laurence Faivre, Guillaume Jondeau, Hanns-Georg Klein, Luitgard M. Neumann, Élodie Gautier, Christine Binquet, Cheryl L. Maslen, Maurice Godfrey, Prateek Gupta, Dianna M. Milewicz, Cathérine Boileau, Mireille Claustres, Christophe Béroud, Gwenaëlle Collod‐Béroud

    Argitaratua 2008
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