Search Results - Bruno Leheup

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  1. 1
    Pathophysiology of impaired ovarian function in galactosaemia

    Pathophysiology of impaired ovarian function in galactosaemia by Thierry Forges, Patricia Monnier‐Barbarino, Bruno Leheup, Philippe Jouvet

    Published 2006
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  2. 2
    Mutations of the<i>PRKAR1A</i>Gene in Cushing’s Syndrome due to Sporadic Primary Pigmented Nodular Adrenocortical Disease

    Mutations of the<i>PRKAR1A</i>Gene in Cushing’s Syndrome due to Sporadic Primary Pigmented Nodular Adrenocortical Disease by Lionel Groussin, Eric Jullian, Karine Perlemoine, A Louvel, Bruno Leheup, J P Luton, Xavier Bertagna, Jérôme Bertherat

    Published 2002
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  3. 3
    Dominant-Negative<i>GCMB</i>Mutations Cause an Autosomal Dominant Form of Hypoparathyroidism

    Dominant-Negative<i>GCMB</i>Mutations Cause an Autosomal Dominant Form of Hypoparathyroidism by Michael Mannstadt, Guylène Bertrand, Mihaela Mureşan, G. Weryha, Bruno Leheup, Sirish R. Pulusani, Bernard Grandchamp, Harald Jüppner, Caroline Silve

    Published 2008
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  4. 4
    Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome

    Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome by Claire Guissart, Xinrui Li, Bruno Leheup, Nathalie Drouot, B. Montaut-Verient, Emmanuel Raffo, P. Jonveaux, Anne‐Françoise Roux, Mireille Claustres, Larry Fliegel, M. Kœnig

    Published 2014
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  5. 5
    Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions

    Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions by Mylène Béri‐Dexheimer, Véronique Latger‐Cannard, Christophe Philippe, Céline Bonnet, Pascal Chambon, Virginie Roth, Marie‐José Gregoire, Pierre Bordigoni, Thomas Lecompte, Bruno Leheup, Philippe Jonveaux

    Published 2008
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  6. 6
    Molecular screening of<i>ALK1/ACVRL1</i>and<i>ENG</i>genes in hereditary hemorrhagic telangiectasia in France

    Molecular screening of<i>ALK1/ACVRL1</i>and<i>ENG</i>genes in hereditary hemorrhagic telangiectasia in France by Gaëtan Lesca, Henri Plauchu, Florence Coulet, Sylvain Lefèbvre, Ghislaine Plessis, Sylvie Odent, Sophie Rivière, Bruno Leheup, Cyril Goizet, Marie‐France Carette, Jean-François Cordier, S. Pinson, Florent Soubrier, Alain Calender, Sophie Giraud

    Published 2004
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  7. 7
    Functional characterization of a human<i>POU1F1</i>mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD

    Functional characterization of a human<i>POU1F1</i>mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD by Marie‐Laure Sobrier, Yu‐Cheng Tsai, Christelle Pérez, Bruno Leheup, Tahar Bouceba, Philippe Duquesnoy, Bruno Copin, Daria Sizova, Alfredo Penzo, Ben Z. Stanger, Nancy E. Cooke, Stephen A. Liebhaber, Serge Amselem

    Published 2015
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  8. 8
    Patient with a heterozygous pathogenic variant in <scp><i>CSNK2A1</i></scp> gene: A new case to update the <scp>Okur–Chung</scp> neurodevelopmental syndrome

    Patient with a heterozygous pathogenic variant in <scp><i>CSNK2A1</i></scp> gene: A new case to update the <scp>Okur–Chung</scp> neurodevelopmental syndrome by A Blanc, Céline Bonnet, Marion Wandzel, Virginie Roth, Yannis Duffourd, Hanna Safraou, Bruno Leheup, Florence Müller, J. Colné, François Feillet, Emmanuelle Schmitt, Matheus Augusto Araújo Castro, Jullian Savatt, Adriano Burcheri, Christophe Némos, Christophe Philippe, Laëtitia Lambert

    Published 2024
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  9. 9
    Growth patterns of patients with Noonan syndrome: correlation with age and genotype

    Growth patterns of patients with Noonan syndrome: correlation with age and genotype by Catie Cessans, Virginie Ehlinger, Catherine Arnaud, Armelle Yart, Yline Capri, Pascal Barat, B. Cammas, Didier Lacombe, R. Coutant, Albert David, Sabine Baron, Jacques Weill, Bruno Leheup, Marc Nicolino, Jean‐Pierre Salles, Alain Verloès, Maïthé Tauber, Hélène Cavé, Thomas Édouard

    Published 2016
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  10. 10
    SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant

    SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant by Andrew Dauber, Christelle Golzio, Cécile Guenot, Francine M. Jodelka, Maria Kibæk, Susanne Kjærgaard, Bruno Leheup, Danielle Martinet, Małgorzata J.M. Nowaczyk, Jill A. Rosenfeld, Susan Zeesman, Janice Zunich, J. Beckmann, Joel N. Hirschhorn, Michelle L. Hastings, Sébastien Jacquemont, Nicholas Katsanis

    Published 2013
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  11. 11
    Unusual cutaneous features associated with a heterozygous gain-of-function mutation in<i>IFIH1</i>: overlap between Aicardi-Goutières and Singleton-Merten syndromes

    Unusual cutaneous features associated with a heterozygous gain-of-function mutation in<i>IFIH1</i>: overlap between Aicardi-Goutières and Singleton-Merten syndromes by A.‐C. Bursztejn, Tracy A. Briggs, Yoandris del Toro Duany, Bryan Anderson, James O’Sullivan, Simon G. Williams, Christine Bodemer, Sylvie Fraïtag, Florian Gebhard, Bruno Leheup, I. Lemelle, Anthony Oojageer, Emmanuel Raffo, Emmanuelle Schmitt, Gillian Rice, Sun Hur, Yanick J. Crow

    Published 2015
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  12. 12
    NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects

    NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects by Florence Roucher‐Boulez, Delphine Mallet-Motak, Dinane Samara‐Boustani, Houweyda Jilani, Asmahane Ladjouze, Pierre‐François Souchon, Dominique Simon, Sylvie Nivot, Claudine Heinrichs, Maryline Ronze, Xavier Bertagna, L. Groisne, Bruno Leheup, Catherine Naud-Saudreau, G Blondin, Christine Lefèvre, Laetitia Lemarchand, Yves Morel

    Published 2016
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  13. 13
    Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome

    Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype phenotype relationships and overlap with Costello syndrome by Caroline Nava, Nadine Hanna, Caroline Michot, Sérgio L. Pereira, Nathalie Pouvreau, Tetsuya Niihori, Yasuhiro Aoki, Yoichi Matsubara, Benoı̂t Arveiler, Didier Lacombe, Éric Pasmant, B. Parfait, Clarisse Baumann, Delphine Héron, S. Sigaudy, Annick Toutain, Marlène Rio, Alice Goldenberg, Bruno Leheup, Alain Verloès, Hélène Cavé

    Published 2007
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  14. 14
    Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

    Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families by Marjorlaine Willems, D. Genevieve, Guntram Borck, Clarisse Baumann, Geneviève Baujat, Éric Bieth, Patrick Edery, Chantal Farra, M. Gerard, Delphine Héron, Bruno Leheup, M Le Merrer, Stanislas Lyonnet, Dominique Martin–Coignard, M Mathieu, Christel Thauvin‐Robinet, Alain Verloès, Laurence Colleaux, Arnold Münnich, Valérie Cormier‐Daire

    Published 2009
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  15. 15
    Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia

    Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia by Iléana Antony‐Debré, Vladimir T. Manchev, Nathalie Balayn, Dominique Bluteau, Cécile Tomowiak, Céline Legrand, Thierry Langlois, Olivia Bawa, Lucie Tosca, Gérard Tachdjian, Bruno Leheup, Najet Debili, Isabelle Plo, Jason A. Mills, Deborah L. French, Mitchell J. Weiss, Éric Solary, Rémi Favier, William Vainchenker, Hana Raslová

    Published 2014
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  16. 16
    Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

    Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD) by Pauline Arnaud, Nadine Hanna, Louise Benarroch, Mélodie Aubart, Laurence Bal, Patrice Bouvagnet, Tiffany Busa, Yves Dulac, Sophie Dupuis‐Girod, Thomas Édouard, Laurence Faivre, Laurent Gouya, Didier Lacombe, Maud Langeois, Bruno Leheup, Olivier Milleron, Sophie Naudion, Sylvie Odent, Maria Tchitchinadze, Jacques Ropers, Guillaume Jondeau, Cathérine Boileau

    Published 2019
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  17. 17
    Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

    Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB by Andreas Zankl, Emma L. Duncan, Paul Leo, Graeme R. Clark, Evgeny A. Glazov, Marie-Claude Addor, Troels Herlin, Chong Ae Kim, Bruno Leheup, Jim McGill, Steven McTaggart, Stephan Mittas, Anna L. Mitchell, Geert Mortier, Stephen P. Robertson, Marie Schroeder, Paulien A. Terhal, Matthew A. Brown

    Published 2012
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  18. 18
    Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

    Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort by Haifa Hichri, Corinne Stoetzel, Virginie Laurier, Solenne Caron, Sabine Sigaudy, Pierre Sarda, Christian Hamel, Dominique Martin–Coignard, Gilles Morin, Bruno Leheup, Mureille Holder, Josseline Kaplan, Pierre Bitoun, Didier Lacombe, Alain Verloès, Dominique Bonneau, Fabienne Perrin‐Schmitt, Christian Brandt, Anne-Françoise Besancon, Jean‐Louis Mandel, Mireille Cossée, Hélène Dollfus

    Published 2005
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  19. 19
    NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

    NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype by Éric Pasmant, Audrey Sabbagh, Gill Spurlock, Ingrid Laurendeau, Elisa Grillo, Marie-José Hamel, Ludovic Martin, S. Barbarot, Bruno Leheup, Diana Rodriguez, Didier Lacombe, Hélène Dollfus, Laurent Pasquier, Bertrand Isidor, S. Ferkal, Jean Soulier, Marc Sanson, Anne Dieux‐Coëslier, Ivan Bièche, Béatrice Parfait, Michel Vidaud, P. Wolkenstein, Meena Upadhyaya, Dominique Vidaud

    Published 2010
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  20. 20
    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 by 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

    Published 2013
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