Search Results - "Dodé, Catherine"

Kallmann syndrome by DODE, Catherine, HARDELIN, Jean-Pierre

“…The Kallmann syndrome (KS) combines hypogonadotropic hypogonadism (HH) with anosmia. This is a clinically and genetically heterogeneous disease. KAL1, encoding…”
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Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism--pathogenesis, diagnosis and treatment by Boehm, Ulrich, Bouloux, Pierre-Marc, Dattani, Mehul T, de Roux, Nicolas, Dodé, Catherine, Dunkel, Leo, Dwyer, Andrew A, Giacobini, Paolo, Hardelin, Jean-Pierre, Juul, Anders, Maghnie, Mohamad, Pitteloud, Nelly, Prevot, Vincent, Raivio, Taneli, Tena-Sempere, Manuel, Quinton, Richard, Young, Jacques

“…Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder caused by the deficient production, secretion or action of gonadotropin-releasing hormone…”
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Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency by Bouilly, Justine, Beau, Isabelle, Barraud, Sara, Bernard, Valérie, Azibi, Kemal, Fagart, Jérôme, Fèvre, Anne, Todeschini, Anne Laure, Veitia, Reiner A, Beldjord, Chérif, Delemer, Brigitte, Dodé, Catherine, Young, Jacques, Binart, Nadine

“…Context: Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and infertility. POI affects 1% of women before age 40 years, and…”
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SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome by Hanchate, Naresh Kumar, Giacobini, Paolo, Lhuillier, Pierre, Parkash, Jyoti, Espy, Cécile, Fouveaut, Corinne, Leroy, Chrystel, Baron, Stéphanie, Campagne, Céline, Vanacker, Charlotte, Collier, Francis, Cruaud, Corinne, Meyer, Vincent, García-Piñero, Alfons, Dewailly, Didier, Cortet-Rudelli, Christine, Gersak, Ksenija, Metz, Chantal, Chabrier, Gérard, Pugeat, Michel, Young, Jacques, Hardelin, Jean-Pierre, Prevot, Vincent, Dodé, Catherine

“…Kallmann syndrome (KS) associates congenital hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency and anosmia. The genetics of KS involves…”
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Neonatal gonadotropin therapy in male congenital hypogonadotropic hypogonadism by Young, Jacques, Bouvattier, Claire, Maione, Luigi, Bouligand, Jérôme, Dodé, Catherine, Guiochon-Mantel, Anne

“…The aim of this Review is to examine the possible additional benefits of neonatal gonadotropin therapy in male patients with congenital hypogonadotropic…”
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Loss-of-Function Mutations in SOX10 Cause Kallmann Syndrome with Deafness by Pingault, Veronique, Bodereau, Virginie, Baral, Viviane, Marcos, Severine, Watanabe, Yuli, Chaoui, Asma, Fouveaut, Corinne, Leroy, Chrystel, Vérier-Mine, Odile, Francannet, Christine, Dupin-Deguine, Delphine, Archambeaud, Françoise, Kurtz, François-Joseph, Young, Jacques, Bertherat, Jérôme, Marlin, Sandrine, Goossens, Michel, Hardelin, Jean-Pierre, Dodé, Catherine, Bondurand, Nadege

“…Transcription factor SOX10 plays a role in the maintenance of progenitor cell multipotency, lineage specification, and cell differentiation and is a major…”
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Defective signaling through plexin-A1 compromises the development of the peripheral olfactory system and neuroendocrine reproductive axis in mice by Marcos, Séverine, Monnier, Carine, Rovira, Xavier, Fouveaut, Corinne, Pitteloud, Nelly, Ango, Fabrice, Dodé, Catherine, Hardelin, Jean-Pierre

“…The olfacto-genital syndrome (Kallmann syndrome) associates congenital hypogonadism due to gonadotropin-releasing hormone (GnRH) deficiency and anosmia. This…”
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Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2 by Dodé, Catherine, Teixeira, Luis, Levilliers, Jacqueline, Fouveaut, Corinne, Bouchard, Philippe, Kottler, Marie-Laure, Lespinasse, James, Lienhardt-Roussie, Anne, Mathieu, Michèle, Moerman, Alexandre, Morgan, Graeme, Murat, Arnaud, Toublanc, Jean-Edmont, Wolczynski, Slawomir, Delpech, Marc, Petit, Christine, Young, Jacques, Hardelin, Jean-Pierre

“…Kallmann syndrome combines anosmia, related to defective olfactory bulb morphogenesis, and hypogonadism due to gonadotropin-releasing hormone deficiency…”
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Impaired FGF signaling contributes to cleft lip and palate by Riley, Bridget M, Mansilla, M. Adela, Ma, Jinghong, Daack-Hirsch, Sandra, Maher, Brion S, Raffensperger, Lisa M, Russo, Erilynn T, Vieira, Alexandre R, Dodé, Catherine, Mohammadi, Moosa, Marazita, Mary L, Murray, Jeffrey C

“…Nonsyndromic cleft lip and palate (NS CLP) is a complex birth defect resulting from a combination of genetic and environmental factors. Several members of the…”
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Biased signaling through G‐protein‐coupled PROKR2 receptors harboring missense mutations by Sbai, Oualid, Monnier, Carine, Dodé, Catherine, Pin, Jean‐Philippe, Hardelin, Jean‐Pierre, Rondard, Philippe

“…Various missense mutations in the gene coding for prokineticin receptor 2 (PROKR2), a G‐protein‐coupled receptor, have been identified in patients with…”
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Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions by Teixeira, Luis, Guimiot, Fabien, Dodé, Catherine, Fallet-Bianco, Catherine, Millar, Robert P, Delezoide, Anne-Lise, Hardelin, Jean-Pierre

“…Patients with Kallmann syndrome (KS) have hypogonadotropic hypogonadism caused by a deficiency of gonadotropin-releasing hormone (GnRH) and a defective sense…”
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First mutation in the FSHR cytoplasmic tail identified in a non-pregnant woman with spontaneous ovarian hyperstimulation syndrome by Hugon-Rodin, Justine, Sonigo, Charlotte, Gompel, Anne, Dodé, Catherine, Grynberg, Michael, Binart, Nadine, Beau, Isabelle

“…Spontaneous ovarian hyperstimulation syndrome (sOHSS) is a rare event occurring mostly during natural pregnancy. Among described etiologies, some activating…”
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Kallmann’s Syndrome: A Comparison of the Reproductive Phenotypes in Men Carrying KAL1 and FGFR1/KAL2 Mutations by Salenave, Sylvie, Chanson, Philippe, Bry, Hélène, Pugeat, Michel, Cabrol, Sylvie, Carel, Jean Claude, Murat, Arnaud, Lecomte, Pierre, Brailly, Sylvie, Hardelin, Jean-Pierre, Dodé, Catherine, Young, Jacques

“…Context: Kallmann’s syndrome (KS) is a genetically heterogeneous disorder consisting of congenital hypogonadotropic hypogonadism (CHH) with anosmia or…”
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The Prevalence of CHD7 Missense Versus Truncating Mutations Is Higher in Patients With Kallmann Syndrome Than in Typical CHARGE Patients by Marcos, Séverine, Sarfati, Julie, Leroy, Chrystel, Fouveaut, Corinne, Parent, Philippe, Metz, Chantal, Wolczynski, Slawomir, Gérard, Marion, Bieth, Eric, Kurtz, François, Verier-Mine, Odile, Perrin, Laurence, Archambeaud, Françoise, Cabrol, Sylvie, Rodien, Patrice, Hove, Hanne, Prescott, Trine, Lacombe, Didier, Christin-Maitre, Sophie, Touraine, Philippe, Hieronimus, Sylvie, Dewailly, Didier, Young, Jacques, Pugeat, Michel, Hardelin, Jean-Pierre, Dodé, Catherine

“…Context: Mutations in CHD7, a gene previously implicated in CHARGE (coloboma, heart defect, choanal atresia, retardation of growth and/or development, genital…”
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Next Generation Sequencing Should Be Proposed to Every Woman With “Idiopathic” Primary Ovarian Insufficiency by Eskenazi, Sarah, Bachelot, Anne, Hugon-Rodin, Justine, Plu-Bureau, Genevieve, Gompel, Anne, Catteau-Jonard, Sophie, Molina-Gomes, Denise, Dewailly, Didier, Dodé, Catherine, Christin-Maitre, Sophie, Touraine, Philippe

“…Abstract Context Primary ovarian insufficiency (POI) affects 1% of women under 40 years of age. POI is idiopathic in more than 70% of cases. Though many…”
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New NOBOX Mutations Identified in a Large Cohort of Women With Primary Ovarian Insufficiency Decrease KIT-L Expression by Bouilly, Justine, Roucher-Boulez, Florence, Gompel, Anne, Bry-Gauillard, Hélène, Azibi, Kemal, Beldjord, Cherif, Dodé, Catherine, Bouligand, Jérôme, Mantel, Anne Guiochon, Hécart, Annie-Claude, Delemer, Brigitte, Young, Jacques, Binart, Nadine

“…Context: Primary ovarian insufficiency (POI) is a major cause of anovulation and infertility in women. This disease affects 1% of women before 40 years, and…”
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Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients by Sarfati, Julie, Fouveaut, Corinne, Leroy, Chrystel, Jeanpierre, Marc, Hardelin, Jean-Pierre, Dodé, Catherine

“…ContextKallmann syndrome (KS) is a genetically heterogeneous developmental disorder that associates hypogonadotropic hypogonadism and anosmia. Various…”
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PROKR2 missense mutations associated with Kallmann syndrome impair receptor signalling activity by Monnier, Carine, Dodé, Catherine, Fabre, Ludovic, Teixeira, Luis, Labesse, Gilles, Pin, Jean-Philippe, Hardelin, Jean-Pierre, Rondard, Philippe

“…Kallmann syndrome (KS) combines hypogonadism due to gonadotropin-releasing hormone deficiency, and anosmia or hyposmia, related to defective olfactory bulb…”
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A Comparative Phenotypic Study of Kallmann Syndrome Patients Carrying Monoallelic and Biallelic Mutations in the Prokineticin 2 or Prokineticin Receptor 2 Genes by Sarfati, Julie, Guiochon-Mantel, Anne, Rondard, Philippe, Arnulf, Isabelle, Garcia-Piñero, Alfons, Wolczynski, Slawomir, Brailly-Tabard, Sylvie, Bidet, Maud, Ramos-Arroyo, Maria, Mathieu, Michèle, Lienhardt-Roussie, Anne, Morgan, Graeme, Turki, Zinet, Bremont, Catherine, Lespinasse, James, Du Boullay, Hélène, Chabbert-Buffet, Nathalie, Jacquemont, Sébastien, Reach, Gérard, De Talence, Nicole, Tonella, Paolo, Conrad, Bernard, Despert, Francois, Delobel, Bruno, Brue, Thierry, Bouvattier, Claire, Cabrol, Sylvie, Pugeat, Michel, Murat, Arnaud, Bouchard, Philippe, Hardelin, Jean-Pierre, Dodé, Catherine, Young, Jacques

“…Context: Both biallelic and monoallelic mutations in PROK2 or PROKR2 have been found in Kallmann syndrome (KS). Objective: The objective of the study was to…”
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Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome by Soussi-Yanicostas, Nadia, Baverel, Françoise, Dupont, Jean-Michel, Cabrol, Sylvie, Levilliers, Jacqueline, Bouchard, Philippe, Kottler, Marie-Laure, Sanchez-Franco, Franco, Delmaghani, Sedigheh, Petit, Christine, Hardelin, Jean-Pierre, Delpech, Marc, De Paepe, Anne, Carel, Jean-Claude, Compain-Nouaille, Sylvie, Richard, Odile, Young, Jacques, Coimbra, Roney S, Goulet-Salmon, Barbara, Cruaud, Corinne, Le Tessier, Dominique, Vermeulen, Stefan, Delemarre-van de Waal, Henriette, Le Dû, Nathalie, Speleman, Frank, Saura, Robert, Bachelot, Yvan, Dodé, Catherine, Amalfitano, Andrea, Pêcheux, Christophe

“…We took advantage of overlapping interstitial deletions at chromosome 8p11-p12 in two individuals with contiguous gene syndromes and defined an interval of…”
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