检索结果 - Anne Guiochon‐Mantel
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GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation seque... 由 Luigi Maione, Andrew Dwyer, Bruno Francou, Anne Guiochon‐Mantel, Nadine Binart, Jérôme Bouligand, Jacques Young
出版 2018Revisão -
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Germline AIP Mutations in Apparently Sporadic Pituitary Adenomas: Prevalence in a Prospective Single-Center Cohort of 443 Patients 由 Laure Cazabat, Jérôme Bouligand, Sylvie Salenave, Michèle Bernier, S. Gaillard, Fabrice Parker, Jacques Young, Anne Guiochon‐Mantel, Philippe Chanson
出版 2012Artigo -
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Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype–phenotype relationships 由 Frédéric Brioude, Jérôme Bouligand, Séverine Trabado, Bruno Francou, Sylvie Salenave, Peter Kamenický, Sylvie Brailly‐Tabard, Philippe Chanson, Anne Guiochon‐Mantel, Jacques Young
出版 2010Revisão -
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Very low frequency of germline GPR101 genetic variation and no biallelic defects with AIP in a large cohort of patients with sporadic pituitary adenomas 由 Anne-Lise Lecoq, Jérôme Bouligand, Mirella Hage, Laure Cazabat, Sylvie Salenave, Agnès Linglart, Jacques Young, Anne Guiochon‐Mantel, Philippe Chanson, Peter Kamenický
出版 2016Artigo -
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Kisspeptin Restores Pulsatile LH Secretion in Patients with Neurokinin B Signaling Deficiencies: Physiological, Pathophysiological and Therapeutic Implications 由 Jacques Young, Jyothis T. George, Javier A. Tello, Bruno Francou, Jérôme Bouligand, Anne Guiochon‐Mantel, Sylvie Brailly‐Tabard, Richard A. Anderson, Robert P. Millar
出版 2012Artigo -
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New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family 由 Nouha Bouali, Bruno Francou, Jérôme Bouligand, Dilek Imanci, Sarra Dimassi, Lucie Tosca, Monia Zaouali, Soumaya Mougou, Jacques Young, Ali Saâd, Anne Guiochon‐Mantel
出版 2017Artigo -
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Familial Glucocorticoid Receptor Haploinsufficiency by Non-Sense Mediated mRNA Decay, Adrenal Hyperplasia and Apparent Mineralocorticoid Excess 由 Jérôme Bouligand, Brigitte Delemer, A.C. Hécart, Geri Méduri, Say Viengchareun, Larbi Amazit, Séverine Trabado, Bruno Fève, Anne Guiochon‐Mantel, Jacques Young, Marc Lombès
出版 2010Artigo -
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Three Novel Heterozygous Point Mutations of<i>NR3C1</i>Causing Glucocorticoid Resistance 由 Géraldine Vitellius, Jérôme Fagart, Brigitte Delemer, Larbi Amazit, Nelly Ramos, Jérôme Bouligand, Florian Le Billan, Frédéric Castinetti, Anne Guiochon‐Mantel, Séverine Trabado, Marc Lombès
出版 2016Artigo -
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<i>TAC3</i>and<i>TACR3</i>Defects Cause Hypothalamic Congenital Hypogonadotropic Hypogonadism in Humans 由 Jacques Young, Jérôme Bouligand, Bruno Francou, Marie-Laure Raffin-Sanson, Stéphanie Gaillez, Marc Jeanpierre, Michaël Grynberg, Peter Kamenický, Philippe Chanson, Sylvie Brailly‐Tabard, Anne Guiochon‐Mantel
出版 2010Artigo
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