תוצאות חיפוש - 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... מאת Luigi Maione, Andrew Dwyer, Bruno Francou, Anne Guiochon‐Mantel, Nadine Binart, Jérôme Bouligand, Jacques Young
יצא לאור 2018Revisão -
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Germline AIP Mutations in Apparently Sporadic Pituitary Adenomas: Prevalence in a Prospective Single-Center Cohort of 443 Patients מאת Laure Cazabat, Jérôme Bouligand, Sylvie Salenave, Michèle Bernier, S. Gaillard, Fabrice Parker, Jacques Young, Anne Guiochon‐Mantel, Philippe Chanson
יצא לאור 2012Artigo -
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Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype–phenotype relationships מאת Frédéric Brioude, Jérôme Bouligand, Séverine Trabado, Bruno Francou, Sylvie Salenave, Peter Kamenický, Sylvie Brailly‐Tabard, Philippe Chanson, Anne Guiochon‐Mantel, Jacques Young
יצא לאור 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 מאת Anne-Lise Lecoq, Jérôme Bouligand, Mirella Hage, Laure Cazabat, Sylvie Salenave, Agnès Linglart, Jacques Young, Anne Guiochon‐Mantel, Philippe Chanson, Peter Kamenický
יצא לאור 2016Artigo -
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Kisspeptin Restores Pulsatile LH Secretion in Patients with Neurokinin B Signaling Deficiencies: Physiological, Pathophysiological and Therapeutic Implications מאת Jacques Young, Jyothis T. George, Javier A. Tello, Bruno Francou, Jérôme Bouligand, Anne Guiochon‐Mantel, Sylvie Brailly‐Tabard, Richard A. Anderson, Robert P. Millar
יצא לאור 2012Artigo -
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New MCM8 mutation associated with premature ovarian insufficiency and chromosomal instability in a highly consanguineous Tunisian family מאת Nouha Bouali, Bruno Francou, Jérôme Bouligand, Dilek Imanci, Sarra Dimassi, Lucie Tosca, Monia Zaouali, Soumaya Mougou, Jacques Young, Ali Saâd, Anne Guiochon‐Mantel
יצא לאור 2017Artigo -
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Familial Glucocorticoid Receptor Haploinsufficiency by Non-Sense Mediated mRNA Decay, Adrenal Hyperplasia and Apparent Mineralocorticoid Excess מאת Jérôme Bouligand, Brigitte Delemer, A.C. Hécart, Geri Méduri, Say Viengchareun, Larbi Amazit, Séverine Trabado, Bruno Fève, Anne Guiochon‐Mantel, Jacques Young, Marc Lombès
יצא לאור 2010Artigo -
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Isolated Familial Hypogonadotropic Hypogonadism and a<i>GNRH1</i>Mutation מאת Jérôme Bouligand, Cristina Ghervan, Javier A. Tello, Sylvie Brailly‐Tabard, Sylvie Salenave, Philippe Chanson, Marc Lombès, Robert P. Millar, Anne Guiochon‐Mantel, Jacques Young
יצא לאור 2009Artigo -
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Three Novel Heterozygous Point Mutations of<i>NR3C1</i>Causing Glucocorticoid Resistance מאת Géraldine Vitellius, Jérôme Fagart, Brigitte Delemer, Larbi Amazit, Nelly Ramos, Jérôme Bouligand, Florian Le Billan, Frédéric Castinetti, Anne Guiochon‐Mantel, Séverine Trabado, Marc Lombès
יצא לאור 2016Artigo -
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<i>TAC3</i>and<i>TACR3</i>Defects Cause Hypothalamic Congenital Hypogonadotropic Hypogonadism in Humans מאת 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
יצא לאור 2010Artigo
כלי חיפוש:
נושאים קשורים
Biology
Genetics
Medicine
Gene
Internal medicine
Endocrinology
Hormone
Mutation
Receptor
Cell biology
Biochemistry
Breast cancer
Cancer
Estrogen receptor
Molecular biology
Phenotype
Coronavirus disease 2019 (COVID-19)
Disease
Hypogonadotropic hypogonadism
Infectious disease (medical specialty)
Kallmann syndrome
Transcription factor
Cell nucleus
Cytoplasm
Gonadotropin-releasing hormone
Luteinizing hormone
Mutant
Nuclear localization sequence
Pathology
Progesterone receptor