Search Results - Marie‐Laure Sobrier

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  1. 1
    Expression and binding properties of two isoforms of the human growth hormone receptor

    Expression and binding properties of two isoforms of the human growth hormone receptor by Marie‐Laure Sobrier, Philippe Duquesnoy, Bénédicte Duriez, Serge Amselem, Michel Goossens

    Published 1993
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  2. 2
    IGF2: Development, Genetic and Epigenetic Abnormalities

    IGF2: Development, Genetic and Epigenetic Abnormalities by Céline Sélénou, Frédéric Brioude, Éloïse Giabicani, Marie‐Laure Sobrier, Irène Netchine

    Published 2022
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  3. 3
    Species-specific Alternative Splice Mimicry at the Growth Hormone Receptor Locus Revealed by the Lineage of Retroelements during Primate Evolution

    Species-specific Alternative Splice Mimicry at the Growth Hormone Receptor Locus Revealed by the Lineage of Retroelements during Primate Evolution by Jacques Pantel, Kalotina Machinis, Marie‐Laure Sobrier, Philippe Duquesnoy, Michel Goossens, Serge Amselem

    Published 2000
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  4. 4
    Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein.

    Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein. by Florence Dastot, Marie‐Laure Sobrier, Philippe Duquesnoy, Bénédicte Duriez, M Goossens, Serge Amselem

    Published 1996
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  5. 5
    Pituitary Stalk Interruption Syndrome: A Clinical-Biological-Genetic Assessment of Its Pathogenesis<sup>1</sup>

    Pituitary Stalk Interruption Syndrome: A Clinical-Biological-Genetic Assessment of Its Pathogenesis<sup>1</sup> by Graziella Pinto, Irène Netchine, Marie‐Laure Sobrier, Françis Brunelle, J.C. Souberbielle, Raja Brauner

    Published 1997
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  6. 6
    Novel HESX1 Mutations Associated with a Life-Threatening Neonatal Phenotype, Pituitary Aplasia, but Normally Located Posterior Pituitary and No Optic Nerve Abnormalities

    Novel HESX1 Mutations Associated with a Life-Threatening Neonatal Phenotype, Pituitary Aplasia, but Normally Located Posterior Pituitary and No Optic Nerve Abnormalities by Marie‐Laure Sobrier, Mohamad Maghnie, Marie-Pierre Vié-Luton, Andrea Secco, Natascia Di Iorgi, Renata Lorini, Serge Amselem

    Published 2006
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  7. 7
    Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism.

    Recurrent nonsense mutations in the growth hormone receptor from patients with Laron dwarfism. by Serge Amselem, Marie‐Laure Sobrier, Philippe Duquesnoy, R Rappaport, M C Postel-Vinay, M Gourmelen, Bruno Dallapiccola, Michel Goossens

    Published 1991
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  8. 8
    A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization.

    A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activit... by Philippe Duquesnoy, Marie‐Laure Sobrier, Bénédicte Duriez, Florence Dastot, C R Buchanan, Martin O. Savage, Michael A. Preece, Constantin T. Craescu, Y. Blouquit, Michel Goossens

    Published 1994
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  9. 9
    Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4

    Syndromic Short Stature in Patients with a Germline Mutation in the LIM Homeobox LHX4 by Kalotina Machinis, Jacques Pantel, Irène Netchine, Juliane Léger, Olivier Camand, Marie‐Laure Sobrier, Florence Dastot‐Le Moal, Philippe Duquesnoy, Marc Abitbol, Paul Czernichow, Serge Amselem

    Published 2001
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  10. 10
    Transcriptional profiling at the <i>DLK1/MEG3</i> domain explains clinical overlap between imprinting disorders

    Transcriptional profiling at the <i>DLK1/MEG3</i> domain explains clinical overlap between imprinting disorders by Walid Abi Habib, Frédéric Brioude, Salah Azzi, Sylvie Rossignol, Agnès Linglart, Marie‐Laure Sobrier, Éloïse Giabicani, Virginie Steunou, Madeleine D. Harbison, Yves Le Bouc, Irène Netchine

    Published 2019
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  11. 11
    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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  12. 12
    SUN-090 Investigation of Imprinting Defects in MKRN3 and DLK1 in Children with Idiopathic Central Precocious Puberty Through Specific DNA Methylation Analysis

    SUN-090 Investigation of Imprinting Defects in MKRN3 and DLK1 in Children with Idiopathic Central Precocious Puberty Through Specific DNA Methylation Analysis by Ana Pinheiro-Machado Canton, Virginie Steunou, Marie‐Laure Sobrier, Luciana Ribeiro Montenegro, Danielle Bessa, Larissa Gomes, Alexander A.L. Jorge, Berenice B. Mendonça, Vinícius Nahime Brito, Irène Netchine, Ana Cláudia Latronico

    Published 2020
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  13. 13
    Insights from the genetic characterization of central precocious puberty associated with multiple anomalies

    Insights from the genetic characterization of central precocious puberty associated with multiple anomalies by Ana Pinheiro Machado Canton, Ana Cristina Victorino Krepischi, Luciana Ribeiro Montenegro, Silvia Souza da Costa, Carla Rosenberg, Virginie Steunou, Marie‐Laure Sobrier, Lucas Santos de Santana, Rachel Sayuri Honjo, Chong Ae Kim, Francis de Zegher, Jan Idkowiak, Lorna C Gilligan, Wiebke Arlt, Mariana Ferreira de Assis Funari, Alexander A.L. Jorge, Berenice B. Mendonça, Irène Netchine, Vinícius Nahime Brito, Ana Cláudia Latronico

    Published 2020
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