Mutations in the maternally imprinted gene MKRN3 are common in familial central precocious puberty
Simon, Dominique, Ba, Ibrahima, Mekhail, Nancy, Ecosse, Emmanuel, Paulsen, Anne, Zenaty, Delphine, Houang, Muriel, Jesuran Perelroizen, Monique, de Filippo, Gian-Paolo, Salerno, Mariacarolina, Simonin, Gilbert, Reynaud, Rachel, Carel, Jean-Claude, Léger, Juliane, de Roux, Nicolas
Published in European journal of endocrinology (01.01.2016)
Published in European journal of endocrinology (01.01.2016)
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New Management Strategy of Pregnancies at Risk of Congenital Adrenal Hyperplasia Using Fetal Sex Determination in Maternal Serum: French Cohort of 258 Cases (2002–2011)
Tardy-Guidollet, Véronique, Menassa, Rita, Costa, Jean-Marc, David, Michel, Bouvattier-Morel, Claire, Baumann, Clarisse, Houang, Muriel, Lorenzini, Françoise, Philip, Nicole, Odent, Sylvie, Guichet, Agnès, Morel, Yves
Published in The journal of clinical endocrinology and metabolism (01.04.2014)
Published in The journal of clinical endocrinology and metabolism (01.04.2014)
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Journal Article
Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome
Thibaud, Nathalie, Netchine, Irène, Merrer, Martine Le, Steunou, Virginie, Bouc, Yves Le, Bertrand, Anne-Marie, Danton, Fabienne, Cabrol, Sylvie, Gicquel, Christine, Houang, Muriel, Burglen, Lydie, Rossignol, Sylvie, Barbu, Véronique
Published in Nature genetics (01.09.2005)
Published in Nature genetics (01.09.2005)
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Journal Article
Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases
Kallali, Wafa, Messiaen, Claude, Saïdi, Roumaisah, Lessim, Soucounda, Viaud, Magali, Dulon, Jerome, Nedelcu, Mariana, Samara, Dinane, Houang, Muriel, Donadille, Bruno, Courtillot, Carine, de Filippo, GianPaolo, Carel, Jean-Claude, Christin-Maitre, Sophie, Touraine, Philippe, Netchine, Irene, Polak, Michel, Léger, Juliane
Published in Orphanet journal of rare diseases (04.11.2021)
Published in Orphanet journal of rare diseases (04.11.2021)
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Journal Article
11p15 Imprinting Center Region 1 Loss of Methylation Is a Common and Specific Cause of Typical Russell-Silver Syndrome: Clinical Scoring System and Epigenetic-Phenotypic Correlations
Netchine, Irène, Rossignol, Sylvie, Dufourg, Marie-Noëlle, Azzi, Salah, Rousseau, Alexandra, Perin, Laurence, Houang, Muriel, Steunou, Virginie, Esteva, Blandine, Thibaud, Nathalie, Raux Demay, Marie-Charles, Danton, Fabienne, Petriczko, Elzbieta, Bertrand, Anne-Marie, Heinrichs, Claudine, Carel, Jean-Claude, Loeuille, Guy-André, Pinto, Graziella, Jacquemont, Marie-Line, Gicquel, Christine, Cabrol, Sylvie, Le Bouc, Yves
Published in The journal of clinical endocrinology and metabolism (01.08.2007)
Published in The journal of clinical endocrinology and metabolism (01.08.2007)
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Journal Article
Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot
Houang, Muriel, Nguyen-Khoa, Thao, Eguether, Thibaut, Ribault, Bettina, Brabant, Séverine, Polak, Michel, Netchine, Irène, Lamazière, Antonin
Published in Endocrine Connections (01.06.2022)
Published in Endocrine Connections (01.06.2022)
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Journal Article
Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit
Donadille, Bruno, Houang, Muriel, Netchine, Irène, Siffroi, Jean-Pierre, Christin-Maitre, Sophie
Published in Endocrine Connections (01.03.2018)
Published in Endocrine Connections (01.03.2018)
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Journal Article
Identification of bronchoalveolar and blood immune-inflammatory biomarker signature associated with poor 28-day outcome in critically ill COVID-19 patients
Houang, Muriel, Nguyen-Khoa, Thao, Eguether, Thibaut, Ribault, Bettina, Brabant, Séverine, Polak, Michel, Netchine, Irène, Lamazière, Antonin
Published in Scientific reports (01.12.2022)
Published in Scientific reports (01.12.2022)
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Journal Article
Combining metabolomics and machine learning models as a tool to distinguish non-classic 21-hydroxylase deficiency from polycystic ovary syndrome without adrenocorticotropic hormone testing
Bachelot, Guillaume, Bachelot, Anne, Bonnier, Marion, Salem, Joe-Elie, Farabos, Dominique, Trabado, Severine, Dupont, Charlotte, Kamenicky, Peter, Houang, Muriel, Fiet, Jean, Le Bouc, Yves, Young, Jacques, Lamazière, Antonin
Published in Human reproduction (Oxford) (01.02.2023)
Published in Human reproduction (Oxford) (01.02.2023)
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Plasma 21-deoxycortisone: a sensitive additive tool in 21-hydroxylase deficiency in newborns
Fiet, Jean, Bachelot, Guillaume, Sow, Coumba, Farabos, Dominique, Helin, Nicolas, Eguether, Thibaut, Dufourg, Marie-Noelle, Bellanne-Chantelot, Christine, Ribaut, Bettina, Bachelot, Anne, Young, Jacques, Houang, Muriel, Lamazière, Antonin
Published in European journal of endocrinology (05.08.2024)
Published in European journal of endocrinology (05.08.2024)
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A proof of concept of a machine learning algorithm to predict late-onset 21-hydroxylase deficiency in children with premature pubic hair
Agnani, Héléna, Bachelot, Guillaume, Eguether, Thibaut, Ribault, Bettina, Fiet, Jean, Le Bouc, Yves, Netchine, Irène, Houang, Muriel, Lamazière, Antonin
Published in The Journal of steroid biochemistry and molecular biology (01.06.2022)
Published in The Journal of steroid biochemistry and molecular biology (01.06.2022)
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Journal Article
Frequency and Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With a Three-Year Follow-Up
Espiard, Stéphanie, Vantyghem, Marie-Christine, Assié, Guillaume, Cardot-Bauters, Catherine, Raverot, Gerald, Brucker-Davis, Françoise, Archambeaud-Mouveroux, Françoise, Lefebvre, Hervé, Nunes, Marie-Laure, Tabarin, Antoine, Lienhardt, Anne, Chabre, Olivier, Houang, Muriel, Bottineau, Muriel, Stroër, Sebastian, Groussin, Lionel, Guignat, Laurence, Cabanes, Laure, Feydy, Antoine, Bonnet, Fidéline, North, Marie Odile, Dupin, Nicolas, Grabar, Sophie, Duboc, Denis, Bertherat, Jérôme
Published in The journal of clinical endocrinology and metabolism (01.03.2020)
Published in The journal of clinical endocrinology and metabolism (01.03.2020)
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Journal Article
Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated with IGF1 Mutation Demonstrates Its Critical Role in Growth and Brain Development
Netchine, Irène, Azzi, Salah, Houang, Muriel, Seurin, Danielle, Perin, Laurence, Ricort, Jean-Marc, Daubas, Claudine, Legay, Christine, Mester, Jan, Herich, Robert, Godeau, François, Le Bouc, Yves
Published in The journal of clinical endocrinology and metabolism (01.10.2009)
Published in The journal of clinical endocrinology and metabolism (01.10.2009)
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Journal Article
Association of Maternal First Trimester Serum Levels of Free Beta Human Chorionic Gonadotropin and Hypospadias: A Population Based Study
Peycelon, Matthieu, Lelong, Nathalie, Carlier, Léa, Monn, M Francesca, De Chalus, Aliénor, Bonnard, Adeline, Rachid, Myriam, Houang, Muriel, Paye-Jaouen, Annabel, Ali, Liza, Lecourbe, Alexandra, Grapin, Christine, Audry, Georges, Legendre, Marie, Muller, Françoise, Dreux, Sophie, El Ghoneimi, Alaa, Benachi, Alexandra, Khoshnood, Babak, Siffroi, Jean-Pierre
Published in The Journal of urology (01.05.2020)
Published in The Journal of urology (01.05.2020)
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Journal Article
Increasing knowledge in IGF1R defects: lessons from 35 new patients
Giabicani, Eloïse, Willems, Marjolaine, Steunou, Virginie, Chantot-Bastaraud, Sandra, Thibaud, Nathalie, Abi Habib, Walid, Azzi, Salah, Lam, Bich, Bérard, Laurence, Bony-Trifunovic, Hélène, Brachet, Cécile, Brischoux-Boucher, Elise, Caldagues, Emmanuelle, Coutant, Regis, Cuvelier, Marie-Laure, Gelwane, Georges, Guemas, Isabelle, Houang, Muriel, Isidor, Bertrand, Jeandel, Claire, Lespinasse, James, Naud-Saudreau, Catherine, Jesuran-Perelroizen, Monique, Perrin, Laurence, Piard, Juliette, Sechter, Claire, Souchon, Pierre-François, Storey, Caroline, Thomas, Domitille, Le Bouc, Yves, Rossignol, Sylvie, Netchine, Irène, Brioude, Frédéric
Published in Journal of medical genetics (01.03.2020)
Published in Journal of medical genetics (01.03.2020)
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Journal Article
Experience with Intraamniotic Thyroxine Treatment in Nonimmune Fetal Goitrous Hypothyroidism in 12 Cases
Ribault, Virginie, Castanet, Mireille, Bertrand, Anne-Marie, Guibourdenche, Jean, Vuillard, Edith, Luton, Dominique, Polak, Michel
Published in The journal of clinical endocrinology and metabolism (01.10.2009)
Published in The journal of clinical endocrinology and metabolism (01.10.2009)
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Journal Article
Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome)
Christin-Maitre, Sophie, Givony, Maria, Albarel, Frédérique, Bachelot, Anne, Bidet, Maud, Blanc, Jean Victor, Bouvattier, Claire, Brac de la Perrière, Aude, Catteau-Jonard, Sophie, Chevalier, Nicolas, Carel, Jean Claude, Coutant, Régis, Donadille, Bruno, Duranteau, Lise, El-Khattabi, Laïla, Hugon-Rodin, Justine, Houang, Muriel, Grynberg, Michaël, Kerlan, Véronique, Leger, Juliane, Misrahi, Micheline, Pienkowski, Catherine, Plu-Bureau, Geneviève, Polak, Michel, Reynaud, Rachel, Siffroi, Jean-Pierre, Sonigo, Charlotte, Touraine, Phillipe, Zenaty, Delphine
Published in Annales d'endocrinologie (01.12.2021)
Published in Annales d'endocrinologie (01.12.2021)
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Journal Article
DNA polymorphisms of the KiSS1 3′ Untranslated region interfere with the folding of a G-rich sequence into G-quadruplex
Huijbregts, Lukas, Roze, Catherine, Bonafe, Giulia, Houang, Muriel, Le Bouc, Yves, Carel, Jean-Claude, Leger, Juliane, Alberti, Patrizia, de Roux, Nicolas
Published in Molecular and cellular endocrinology (04.04.2012)
Published in Molecular and cellular endocrinology (04.04.2012)
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Journal Article
Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias
Peycelon, Matthieu, Mansour-Hendili, Lamisse, Hyon, Capucine, Collot, Nathalie, Houang, Muriel, Legendre, Marie, Chabaud, Maud, Bouvier, Marie-Dominique, Audry, Georges, Amselem, Serge, Siffroi, Jean-Pierre
Published in Sexual development (01.01.2017)
Published in Sexual development (01.01.2017)
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Longitudinal evaluation and risk factors of lipodystrophy and associated metabolic changes in HIV-infected children
Beregszaszi, Marta, Dollfus, Catherine, Levine, Martine, Faye, Albert, Deghmoun, Samia, Bellal, Nassima, Houang, Muriel, Chevenne, Didier, Hankard, Régis, Bresson, Jean-Louis, Blanche, Stéphane, Levy-Marchal, Claire
Published in Journal of acquired immune deficiency syndromes (1999) (01.10.2005)
Published in Journal of acquired immune deficiency syndromes (1999) (01.10.2005)
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