Search Results - Marie‐Laure Kottler

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  1. 1
    Paternal<i>GNAS</i>Mutations Lead to Severe Intrauterine Growth Retardation (IUGR) and Provide Evidence for a Role of XLαs in Fetal Development

    Paternal<i>GNAS</i>Mutations Lead to Severe Intrauterine Growth Retardation (IUGR) and Provide Evidence for a Role of XLαs in Fetal Development by Nicolas Richard, Arnaud Molin, Nadia Coudray, Pauline Rault-Guillaume, Harald Jüppner, Marie‐Laure Kottler

    Published 2013
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  2. 2
    <i>GNAS1</i>Lesions in Pseudohypoparathyroidism Ia and Ic: Genotype Phenotype Relationship and Evidence of the Maternal Transmission of the Hormonal Resistance

    <i>GNAS1</i>Lesions in Pseudohypoparathyroidism Ia and Ic: Genotype Phenotype Relationship and Evidence of the Maternal Transmission of the Hormonal Resistance by Agnès Linglart, Jean‐Claude Carel, Michèle Garabédian, Tran Lé, E. Mallet, Marie-Laure Kottler

    Published 2002
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  3. 3
    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 by Nicolas Richard, Geneviève Abéguilé, Nadia Coudray, Hervé Mittre, Nicolas Gruchy, Joris Andrieux, P. Cathébras, Marie‐Laure Kottler

    Published 2012
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  4. 4
    Resistance of Hypogonadic Patients with Mutated GnRH Receptor Genes to Pulsatile GnRH Administration

    Resistance of Hypogonadic Patients with Mutated GnRH Receptor Genes to Pulsatile GnRH Administration by Philippe Caron, Stéphanie Chauvin, Sophie Christin‐Maître, Antoine Bennet, Najiba Lahlou, Raymond Counis, Philippe Bouchard, Marie‐Laure Kottler

    Published 1999
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  5. 5
    Gonadotropin-releasing hormone and the control of gonadotrope function

    Gonadotropin-releasing hormone and the control of gonadotrope function by Raymond Counis, Jean‐Noël Laverrière, Ghislaine Garrel, Christian Bleux, Joëlle Cohen-Tannoudji, Yannick Lerrant, Marie‐Laure Kottler, Solange Magre

    Published 2005
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  6. 6
    Activating Mutations of the Calcium-Sensing Receptor: Management of Hypocalcemia

    Activating Mutations of the Calcium-Sensing Receptor: Management of Hypocalcemia by Anne Lienhardt, Mei Bai, Jean‐Pierre Lagarde, Michel Rigaud, Zaixiang Zhang, Yougfeng Jiang, Marie‐Laure Kottler, Edward M. Brown, Michèle Garabédian

    Published 2001
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  7. 7
    A Large Homozygous or Heterozygous In-Frame Deletion within the Calcium-Sensing Receptor’s Carboxylterminal Cytoplasmic Tail That Causes Autosomal Dominant Hypocalcemia<sup>1</sup>

    A Large Homozygous or Heterozygous In-Frame Deletion within the Calcium-Sensing Receptor’s Carboxylterminal Cytoplasmic Tail That Causes Autosomal Dominant Hypocalcemia<sup>1</sup>... by Anne Lienhardt, Michèle Garabédian, Mei Bai, Christiane Sinding, Zaixiang Zhang, Jean‐Pierre Lagarde, J Boulesteix, Michel Rigaud, Edward M. Brown, Marie‐Laure Kottler

    Published 2000
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  8. 8
    Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25‐(OH) <sub>2</sub> D <sub>3</sub> in Affected Patients

    Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25‐(OH) <sub>2</sub> D <sub>3</sub> in Affected Patients by Martin Kaufmann, Nicole Erin Morse, Billy J. Molloy, Donald P. Cooper, Karl P. Schlingmann, Arnaud Molin, Marie-Laure Kottler, John C. Gallagher, Laura Armas, Glenville Jones

    Published 2017
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  9. 9
    Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in Humans

    Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in Humans by M. Lebrun, Nicolas Richard, Geneviève Abéguilé, Anne David, Anne Dieux, Hubert Journel, Didier Lacombe, Graziella Pinto, Sylvie Odent, Juliette Salles, Alain Taı̈eb, S. Gandon-Laloum, Marie‐Laure Kottler

    Published 2010
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  10. 10
    Familial Medullary Thyroid Carcinoma with Noncysteine RET Mutations: Phenotype-Genotype Relationship in a Large Series of Patients

    Familial Medullary Thyroid Carcinoma with Noncysteine RET Mutations: Phenotype-Genotype Relationship in a Large Series of Patients by Patricia Niccoli‐Sire, Arnaud Murat, V. Rohmer, Sylvia Franc, G. Chabrier, L Baldet, Beatrice Maes, Frédérique Savagner, Sophie Giraud, Stéphane Bézieau, Marie-Laure Kottler, Sophie Morange, B. Conte‐Devolx

    Published 2001
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  11. 11
    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 by 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

    Published 2005
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  12. 12
    Vitamin D–Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

    Vitamin D–Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition? by Arnaud Molin, Arnaud Wiedemann, Nick Demers, Martin Kaufmann, Jérémy Do Cao, Laurent Mainard, B. Dousset, P. Journeau, Geneviève Abéguilé, Nadia Coudray, Hervé Mittre, Nicolas Richard, G. Weryha, Arthur Sorlin, Glenville Jones, Marie‐Laure Kottler, François Feillet

    Published 2017
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  13. 13
    <i>CYP24A1</i>Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait

    <i>CYP24A1</i>Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait by Arnaud Molin, R. Baudoin, Martin Kaufmann, J.-C. Souberbielle, Amélie Ryckewaert, Marie‐Christine Vantyghem, P. Eckart, Justine Bacchetta, Georges Deschênes, G. Kesler-Roussey, Nadia Coudray, Nicolas Richard, M. Wraich, Q. Bonafiglia, Anatoly Tiulpakov, Glenville Jones, Marie‐Laure Kottler

    Published 2015
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  14. 14
    Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2

    Kallmann Syndrome: Mutations in the Genes Encoding Prokineticin-2 and Prokineticin Receptor-2 by Catherine Dodé, Luís Teixeira, Jacqueline Levilliers, Corinne Fouveaut, Philippe Bouchard, Marie-Laure Kottler, James Lespinasse, Anne Lienhardt-Roussie, Michèle Mathieu, Alexandre Moerman, Graeme Morgan, Arnaud Murat, Jean-Edmont Toublanc, Sławomir Wołczyński, Marc Delpech, Christine Petit, Jacques Young, Jean-Pierre Hardelin

    Published 2006
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  15. 15
    Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency

    Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency by Jin‐Ho Choi, Ravikumar Balasubramanian, Phil H. Lee, Natalie D. Shaw, Janet E. Hall, Lacey Plummer, Cassandra Buck, Marie-Laure Kottler, Katarzyna Jarząbek, Sławomir Wołczyński, Richard Quinton, Ana Cláudia Latronico, Catherine Dodé, Tsutomu Ogata, Hyung‐Goo Kim, Lawrence C. Layman, James F. Gusella, William F. Crowley

    Published 2015
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  16. 16
    Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity

    Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity by Patrick Hanna, Virginie Grybek, Guiomar Pérez de Nanclares, Léa C Tran, Luisa De Sanctis, Francesca Marta Elli, Javier Errea, Bruno Francou, Peter Kamenický, Léa Linglart, Arrate Pereda, Anya Rothenbühler, Daniele Tessaris, Susanne Thiele, Alessia Usardi, Ashley H. Shoemaker, Marie-Laure Kottler, Harald Jüppner, Giovanna Mantovani, Agnès Linglart

    Published 2018
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  17. 17
    Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

    Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome by Catherine Dodé, Jacqueline Levilliers, Jean‐Michel Dupont, Anne De Paepe, Nathalie Le Dû, Nadia Soussi‐Yanicostas, Roney S. Coimbra, Sedigheh Delmaghani, Sylvie Compain-Nouaille, Françoise Baverel, Christophe Pécheux, Dominique Le Tessier, Corinne Cruaud, Marc Delpech, Frank Speleman, Stefan Vermeulen, Andrea Amalfitano, Y. Bachelot, Philippe Bouchard, Sylvie Cabrol, Jean‐Claude Carel, Henriette Delemarre-van de Waal, B. Goulet-Salmon, Marie‐Laure Kottler, Odile Richard, Franco Sánchez‐Franco, Robert Saura, Jacques Young, Christine Petit, Jean‐Pierre Hardelin

    Published 2003
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  18. 18
    Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

    Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement by Giovanna Mantovani, Beatriz Lecumberri, Murat Bastepe, David Monk, Sanctis Luisa de, Susanne Thiele, Alessia Usardi, Faisal Ahmed, Roberto Bufo, Timothée Choplin, Gianpaolo DeFilippo, Guillemette Devernois, Thomas Eggermann, Francesca Marta Elli, Kathleen Freson, Aurora García Ramirez, Emily L. Germain‐Lee, Lionel Groussin, Neveen A. T. Hamdy, Patrick Hanna, Olaf Hiort, Harald Jüppner, Peter Kamenický, Nina Knight, Marie‐Laure Kottler, Norcy Elvire Le, Michael A. Levine, Outi Mäkitie, Regina Matsunaga Martin, Gabriel Ángel Martos‐Moreno, Masanori Minagawa, Philip I. Murray, Arrate Pereda, Robert J. Pignolo, Lars Rejnmark, Rebecca Rodado, Anya Rothenbühler, Vrinda Saraff, Ashley H. Shoemaker, Eileen M. Shore, Caroline Silve, Serap Turan, Philip R. Woods, M. Carola Zillikens, Guiomar Pérez de Nanclares, Agnès Linglart

    Published 2018
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  19. 19
    Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

    Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement by Giovanna Mantovani, Murat Bastepe, David Monk, Luisa De Sanctis, Susanne Thiele, Alessia Usardi, S. Faisal Ahmed, Roberto Bufo, Timothée Choplin, Gianpaolo De Filippo, Guillemette Devernois, Thomas Eggermann, Francesca Marta Elli, Kathleen Freson, Aurora García Ramirez, Emily L. Germain‐Lee, Lionel Groussin, Neveen A. T. Hamdy, Patrick Hanna, Olaf Hiort, Harald Jüppner, Peter Kamenický, Nina Knight, Marie-Laure Kottler, Elvire Le Norcy, Beatriz Lecumberri, Michael A. Levine, Outi Mäkitie, Regina Matsunaga Martin, Gabriel Ángel Martos‐Moreno, Masanori Minagawa, Philip Murray, Arrate Pereda, Robert J. Pignolo, Lars Rejnmark, Rebecca Rodado, Anya Rothenbühler, Vrinda Saraff, Ashley H. Shoemaker, Eileen M. Shore, Caroline Silve, Serap Turan, Philip R. Woods, M. Carola Zillikens, Guiomar Pérez de Nanclares, Agnès Linglart

    Published 2018
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