Rezultati - J. Roume

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  1. 1
    Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.

    Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. od Anne-Sixtine Jobert, Zhang Ping, Alain Couvineau, Jacky Bonaventure, J. Roume, M. Le Merrer, Caroline Silve

    Izdano 1998
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  2. 2
    Absence of Functional Type 1 Parathyroid Hormone (PTH)/PTH-Related Protein Receptors in Humans Is Associated with Abnormal Breast Development and Tooth Impaction1

    Absence of Functional Type 1 Parathyroid Hormone (PTH)/PTH-Related Protein Receptors in Humans Is Associated with Abnormal Breast Development and Tooth Impaction1 od John J. Wysolmerski, Sarah Cormier, William M. Philbrick, Pamela Dann, Jianping Zhang, J. Roume, Anne‐Lise Delezoide, Caroline Silve

    Izdano 2001
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  3. 3
    A Gene for Meckel Syndrome Maps to Chromosome 11q13

    A Gene for Meckel Syndrome Maps to Chromosome 11q13 od J. Roume, Emmanuelle Génin, Valérie Cormier‐Daire, Hongqi Ma, Blandine Mehaye, Tania Attié‐Bitach, F. Razavi-Encha, Catherine Fallet‐Bianco, Annie Buénerd, Françoise Clerget‐Darpoux, Arnold Münnich, M. Le Merrer

    Izdano 1998
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  4. 4
    Diagnosis and treatment of pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: An overview

    Diagnosis and treatment of pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: An overview od Pascal Lacombe, Alexis Lacout, Pierre Yves Marcy, S. Binsse, J. Sellier, Mohamed Ben-Salah, Thierry Chinet, Isabelle Bourgault‐Villada, Sandra Blivet, J. Roume, Gilles Lesur, J.-H. Blondel, C. Fagnou, Augustin Ozanne, S Chagnon, Mostafa El Hajjam

    Izdano 2013
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  5. 5
    A Prevalent Mutation with Founder Effect in Xeroderma Pigmentosum Group C from North Africa

    A Prevalent Mutation with Founder Effect in Xeroderma Pigmentosum Group C from North Africa od Nadem Soufir, Cécile Ged, Agnès Bourillon, Frédéric Austerlitz, Cécile Chemin, Anne Stary, J. Armier, Danièle Pham, K. Khadir, J. Roume, S. Hadj‐Rabia, B. Bouadjar, Alain Taı̈eb, Hubert de Verneuil, Hakima Benchiki, Bernard Grandchamp, Alain Sarasin

    Izdano 2010
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  6. 6
    Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network

    Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: Data from the French-Italian HHT network od Gaëtan Lesca, Carla Olivieri, Nelly Burnichon, Fabio Pagella, Marie‐France Carette, Brigitte Gilbert‐Dussardier, Cyril Goizet, J. Roume, Muriel Rabilloud, Jean‐Christophe Saurin, Vincent Cottin, Jérôme Honnorat, Florence Coulet, Sophie Giraud, Alain Calender, Cesare Danesino, Elisabetta Buscarini, Henri Plauchu

    Izdano 2007
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  7. 7
    Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia

    Exome Sequencing Identifies INPPL1 Mutations as a Cause of Opsismodysplasia od Céline Huber, Eissa Faqeih, Deborah Bartholdi, Christine Bôle‐Feysot, Zvi Borochowitz, Denise P. Cavalcanti, Amandine Frigo, Patrick Nitschké, J. Roume, Heloísa G. dos Santos, Stavit Shalev, Andrea Superti‐Furga, Anne‐Lise Delezoide, Martine Le Merrer, Arnold Münnich, Valérie Cormier‐Daire

    Izdano 2012
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  8. 8
    Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans

    Integrin Alpha 8 Recessive Mutations Are Responsible for Bilateral Renal Agenesis in Humans od Camille Humbert, Flora Silbermann, Bharti Morar, Mélanie Parisot, Mohammed Zarhrate, Cécile Masson, Frédéric Torès, Patricia Blanchet, Marie-José Perez, Yuliya Petrov, Philippe Khau Van Kien, J. Roume, Brigitte Leroy, Olivier Gribouval, Luba Kalaydjieva, Laurence Heidet, Rémi Salomon, Corinne Antignac, Alexandre Benmerah, Sophie Saunier, Marc Jeanpierre

    Izdano 2014
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  9. 9
    Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

    Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition od Mélodie Aubart, Delphine Gobert, F. Aubart-Cohen, Delphine Détaint, Nadine Hanna, d’Indya Hyacintha, Lequintrec Janine-Sophie, P Renard, Anne-Marie Vigneron, Philippe Dieudé, Jean‐Pierre Laissy, Pierre Koch, Christine Muti, J. Roume, Véronica Cusin, Bernard Grandchamp, Laurent Gouya, Eric Leguern, T. Papo, Cathérine Boileau, Guillaume Jondeau

    Izdano 2014
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  10. 10
    Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome

    Heterogeneity of<i>NSD1</i>alterations in 116 patients with Sotos syndrome od Pascale Saugier‐Veber, Céline Bonnet, Alexandra Afenjar, Valérie Drouin‐Garraud, Christine Coubes, Séverine Fehrenbach, Muriel Holder‐Espinasse, J. Roume, Valérie Malan, Marie‐France Portnoï, Nicolas Jeanne, Clarisse Baumann, Delphine Héron, Albert David, Marion Gérard, Dominique Bonneau, Didier Lacombe, Valérie Cormier‐Daire, Thierry Billette de Villemeur, Thierry Frébourg, Lydie Bürglen

    Izdano 2007
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  11. 11
    Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract

    Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract od Laurence Heidet, Vincent Morinière, C. Henry, Lara De Tomasi, Madeline Louise Reilly, Camille Humbert, Olivier Alibeu, Cécile Fourrage, Christine Bôle‐Feysot, Patrick Nitschké, Frédéric Torès, Marc Bras, Marc Jeanpierre, Christine Piétrement, Dominique Gaillard, Marie Gonzalès, Robert Novo, Élise Schaefer, J. Roume, Jéléna Martinovic, Valérie Malan, Rémi Salomon, Sophie Saunier, Corinne Antignac, Marc Jeanpierre

    Izdano 2017
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  12. 12
    Loss-of-function mutations in<i>KIF14</i>cause severe microcephaly and kidney development defects in humans and zebrafish

    Loss-of-function mutations in<i>KIF14</i>cause severe microcephaly and kidney development defects in humans and zebrafish od Madeline Louise Reilly, Marijn Stokman, Virginie Magry, Marc Jeanpierre, Marine Alves, Mohammadjavad Paydar, Jacqueline R. Hellinga, Marion Delous, Daniel Pouly, Marion Failler, Jéléna Martinovic, Laurence Lœuillet, Brigitte Leroy, Julia Tantau, J. Roume, Cheryl Y. Gregory‐Evans, Xianghong Shan, Isabel Filges, John S. Allingham, Benjamin H. Kwok, Sophie Saunier, Rachel H. Giles, Alexandre Benmerah

    Izdano 2018
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  13. 13
    Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway

    Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway od Christèle Dubourg, Wilfrid Carré, Houda Hamdi‐Rozé, Charlotte Mouden, J. Roume, Benmansour Abdelmajid, Daniel Amram, Clarisse Baumann, Nicolas Chassaing, Christine Coubes, Laurence Faivre-Olivier, Emmanuelle Ginglinger, Marie Gonzalès, Annie Levy‐Mozziconacci, Sally Ann Lynch, Sophie Naudion, Laurent Pasquier, Amélie Poidvin, Fabienne Prieur, Pierre Sarda, Annick Toutain, Valérie Dupé, Linda Akloul, Sylvie Odent, Marie de Tayrac, Véronique David

    Izdano 2016
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  14. 14
    Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing

    Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing od A. Taillandier, Christelle Domingues, Clémence De Cazanove, Valérie Porquet‐Bordes, Sophie Monnot, Tina Kiffer-Moreira, Agnès Rothenbuhler, Pascal Guggenbuhl, Catherine Cormier, Geneviève Baujat, Françoise Debiais, Yline Capri, Martine Cohen‐Solal, P. Parent, Jean Chiésa, Anne Dieux, Florence Petit, J. Roume, Monica Isnard, Valérie Cormier‐Daire, Agnès Linglart, José Luís Millán, Jean‐Pierre Salles, Christine Muti, Brigitte Simon‐Bouy, Étienne Mornet

    Izdano 2015
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  15. 15
    Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

    Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease od Jean Muller, Corinne Stoetzel, M. C. Vincent, Carmen C. Leitch, Virginie Laurier, Jean Marc Danse, Sophie Hellé, Vincent Marion, V Bennouna-Greene, Serge Vicaire, André Mégarbané, Josseline Kaplan, Valérie Drouin‐Garraud, M. Hamdani, Sabine Sigaudy, Christine Francannet, J. Roume, Pierre Bitoun, Alice Goldenberg, N. Philip, Sylvie Odent, J. Green, Mireille Cossée, Erica E. Davis, Nicholas Katsanis, Dominique Bonneau, Alain Verloès, Olivier Poch, Jean‐Louis Mandel, Hélène Dollfus

    Izdano 2010
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  16. 16
    <i>CC2D2A</i>mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

    <i>CC2D2A</i>mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation od Soumaya Mougou-Zerelli, Sophie Thomas, Emmanuelle Szenker‐Ravi, Sophie Audollent, Nadia Elkhartoufi, Candice Babarit, Stéphane Romano, Rémi Salomon, Jeanne Amiel, Chantal Esculpavit, Marie Gonzalès, Estelle Escudier, Bruno Leheup, Philippe Loget, Sylvie Odent, J. Roume, Marion Gérard, Anne-Lise Delezoide, Suonavy Khung, Sophie Patrier, Marie-Pierre Cordier, Raymonde Bouvier, Jéléna Martinovic, Marie‐Claire Gubler, Nathalie Boddaert, Arnold Münnich, Férechté Encha‐Razavi, Enza Maria Valente, Ali Saâd, Sophie Saunier, Michel Vekemans, Tania Attié‐Bitach

    Izdano 2009
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  17. 17
    Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice

    Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice od Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Frédéric Torès, Stéphane Fouquet, Audrey Desgrange, Olivier Niel, Christine Bôle‐Feysot, Patrick Nitschké, J. Roume, Marie‐Pierre Cordier, Christine Piétrement, Bertrand Isidor, Philippe Khau Van Kien, Marie Gonzalès, Marie‐Hélène Saint‐Frison, Jéléna Martinovic, Robert Novo, Juliette Piard, Christelle Cabrol, Ishwar C. Verma, Ratna Dua Puri, Hubert Journel, Jacqueline Aziza, Laurent Gavard, Marie-Hélène Saïd-Menthon, Laurence Heidet, Sophie Saunier, Marc Jeanpierre

    Izdano 2017
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  18. 18
    Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome

    Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel Syndrome od Lekbir Baala, Sophie Audollent, Jéléna Martinovic, Catherine Ozilou, Marie‐Claude Babron, Sivanthiny Sivanandamoorthy, Sophie Saunier, Rémi Salomon, Marie Gonzalès, Eleanor Rattenberry, Chantal Esculpavit, Annick Toutain, Claude Moraine, Philippe Parent, Pascale Marcorelles, Marie‐Christine Dauge, J. Roume, Martine Le Merrer, Vardiella Meiner, Karen Meir, Françoise Ménez, A. M. Beaufrére, Christine Francannet, Julia Tantau, Martine Sinico, Yves Dumez, Fiona MacDonald, Arnold Münnich, Stanislas Lyonnet, Marie‐Claire Gubler, Emmanuelle Génin, Colin A. Johnson, Michel Vekemans, Férechté Encha‐Razavi, Tania Attié‐Bitach

    Izdano 2007
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  19. 19
    Spectrum of<i>MKS1</i>and<i>MKS3</i>mutations in Meckel syndrome: a genotype-phenotype correlation

    Spectrum of<i>MKS1</i>and<i>MKS3</i>mutations in Meckel syndrome: a genotype-phenotype correlation od Rana Khaddour, Ursula M. Smith, Lekbir Baala, Jéléna Martinovic, Davina Clavering, Rizwana Shaffiq, Catherine Ozilou, Andrew R. Cullinane, Mira Kyttälä, Stavit A. Shalev, Sophie Audollent, Camille d’Humières, Noman Kadhom, Chantal Esculpavit, Géraldine Viot, Claire Boone, Christine Oien, Férechté Encha‐Razavi, P A Batman, Christopher Bennett, C. Geoffrey Woods, J. Roume, Stanislas Lyonnet, Emmanuelle Génin, Martine Le Merrer, Arnold Münnich, Marie‐Claire Gubler, P. Cox, Fiona MacDonald, Michel Vekemans, Colin A. Johnson, Tania Attié‐Bitach

    Izdano 2007
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  20. 20
    Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

    Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma od Betty Gardie, Audrey Remenieras, Darouna Kattygnarath, Johny Bombled, Sandrine-Hélène Lefèvre, Victoria Perrier-Trudova, Pierre Rustin, M. Barrois, Abdelhamid Slama, M.-F. Avril, D. Bessis, Olivier Caron, F. Caux, Patrick Collignon, I. Coupier, Catherine Cremin, Hélène Dollfus, Catherine Dugast, B. Escudier, Laurence Faivre, Michael Field, Brigitte Gilbert‐Dussardier, Nicolas Janin, Y. Leport, Dominique Leroux, Dan Lipsker, F. Malthieu, B. McGilliwray, Christine Maugard, A. Méjean, Isabelle Mortemousque, Ghislaine Plessis, Bruce Poppe, C. Pruvost‐Balland, S. Rooker, J. Roume, Nadem Soufir, M. Steinraths, Min Tan, Christine Théodore, L. Thomas, P. Vabres, E. Van Glabeke, Jean‐Baptiste Méric, Virginie Verkarre, Gilbert Lenoir, V. Joulin, Scott DeVeaux, Véronica Cusin, Jean Feunteun, Bin Tean Teh, Brigitte Bressac–de Paillerets, Richard J. Kahnoski

    Izdano 2011
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