Search Results - "Cabrol, Sylvie"

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome by 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

“…Silver-Russell syndrome (SRS, OMIM 180860) is a congenital disorder characterized by severe intrauterine and postnatal growth retardation, dysmorphic facial…”
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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 by 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

“…Context: Russell-Silver syndrome (RSS), characterized by intrauterine and postnatal growth retardation, dysmorphic features, and frequent body asymmetry,…”
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The Paradoxical Increase in Cortisol Secretion Induced by Dexamethasone in Primary Pigmented Nodular Adrenocortical Disease Involves a Glucocorticoid Receptor-Mediated Effect of Dexamethasone on Protein Kinase A Catalytic Subunits by Louiset, Estelle, Stratakis, Constantine A., Perraudin, Véronique, Griffin, Kurt J., Libé, Rossella, Cabrol, Sylvie, Fève, Bruno, Young, Jacques, Groussin, Lionel, Bertherat, Jérôme, Lefebvre, Hervé

“…Context: Primary pigmented nodular adrenocortical disease (PPNAD) results in most cases from mutations of the protein kinase A (PKA) regulatory subunit 1A…”
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A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction by Froguel, Philippe, Clément, Karine, Vaisse, Christian, Lahlou, Najiba, Cabrol, Sylvie, Pelloux, Veronique, Cassuto, Dominique, Gourmelen, Micheline, Dina, Christian, Chambaz, Jean, Lacorte, Jean-Marc, Basdevant, Arnaud, Bougnères, Pierre, Lebouc, Yves, Guy-Grand, Bernard

“…The adipocyte-specific hormone leptin, the product of the obese (ob) gene,regulates adipose-tissue mass through hypothalamic effects on satiety and energy…”
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Cardiovascular findings and management in Turner syndrome: insights from a French cohort by Donadille, Bruno, Rousseau, Alexandra, Zenaty, Delphine, Cabrol, Sylvie, Courtillot, Carine, Samara-Boustani, Dinane, Salenave, Sylvie, Monnier-Cholley, Laurence, Meuleman, Catherine, Jondeau, Guillaume, Iserin, Laurence, Duranteau, Lise, Cabanes, Laure, Bourcigaux, Nathalie, Bonnet, Damien, Bouchard, Philippe, Chanson, Philippe, Polak, Michel, Touraine, Philippe, Lebouc, Yves, Carel, Jean-Claude, Léger, Juliane, Christin-Maitre, Sophie

“…ObjectiveCongenital cardiovascular malformations and aortic dilatation are frequent in patients with Turner syndrome (TS). The objective of this study was to…”
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Noonan Syndrome: Relationships between Genotype, Growth, and Growth Factors by Limal, Jean-Marie, Parfait, Béatrice, Cabrol, Sylvie, Bonnet, Damien, Leheup, Bruno, Lyonnet, Stanislas, Vidaud, Michel, Le Bouc, Yves

“…Context: Half of the patients with Noonan syndrome (NS) carry mutation of the PTPN11 gene, which plays a role in many hormonal signaling pathways. The…”
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Incidence of Growth Hormone Deficiency in Pediatric-Onset Langerhans Cell Histiocytosis: Efficacy and Safety of Growth Hormone Treatment by Donadieu, Jean, Rolon, Maria-Alejandra, Pion, Isabelle, Thomas, Caroline, Doz, François, Barkaoui, Mohamed, Robert, Alain, Deville, Anne, Mazingue, Françoise, David, Michel, Brauner, Raja, Cabrol, Sylvie, Garel, Catherine, Polak, Michel

“…We retrospectively studied 61 patients with GH deficiency (GHD), identified among 589 patients with Langerhans cell histiocytosis (LCH) enrolled in a…”
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Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia by ROBINS, Tiina, BELLANNE-CHANTELOT, Christine, BARBARO, Michela, CABROL, Sylvie, WEDELL, Anna, LAJIC, Svetlana

“…Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is the most common inherited disorder of steroid metabolism, with an incidence of 1/10,000 in…”
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Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci by Azzi, Salah, Rossignol, Sylvie, Steunou, Virginie, Sas, Theo, Thibaud, Nathalie, Danton, Fabienne, Le Jule, Maryline, Heinrichs, Claudine, Cabrol, Sylvie, Gicquel, Christine, Le Bouc, Yves, Netchine, Irene

“…Genomic imprinting plays an important role in mammalian development. Loss of imprinting (LOI) through loss (LOM) or gain (GOM) of methylation is involved in…”
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Assessment of Leydig and Sertoli Cell Functions in Infants with Nonmosaic Klinefelter Syndrome: Insulin-Like Peptide 3 Levels Are Normal and Positively Correlated with LH Levels by Cabrol, Sylvie, Ross, Judith L, Fennoy, Ilene, Bouvattier, Claire, Roger, Marc, Lahlou, Najiba

“…Insulin-like peptide 3 levels are normal and positively correlated with LH levels in infants with Klinefelter syndrome, in contrast to adult patients. Context:…”
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Determining clinical and biological indicators for health outcomes in adult patients with childhood onset of congenital adrenal hyperplasia by Bachelot, Anne, Golmard, Jean Louis, Dulon, Jérôme, Dahmoune, Nora, Leban, Monique, Bouvattier, Claire, Cabrol, Sylvie, Leger, Juliane, Polak, Michel, Touraine, Philippe

“…AimAdverse outcomes in adult congenital adrenal hyperplasia (CAH) patients are frequent. The determinants of them have not yet been established.ObjectiveTo…”
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Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 Patients by Maimoun, Laurent, Philibert, Pascal, Cammas, Benoit, Audran, Françoise, Bouchard, Philippe, Fenichel, Patrick, Cartigny, Maryse, Pienkowski, Catherine, Polak, Michel, Skordis, Nicos, Mazen, Inas, Ocal, Gonul, Berberoglu, Merih, Reynaud, Rachel, Baumann, Clarisse, Cabrol, Sylvie, Simon, Dominique, Kayemba-Kay's, Kabangu, De Kerdanet, Marc, Kurtz, François, Leheup, Bruno, Heinrichs, Claudine, Tenoutasse, Sylvie, Van Vliet, Guy, Grüters, Annette, Eunice, Marumudi, Ammini, Ariachery C, Hafez, Mona, Hochberg, Ze'ev, Einaudi, Sylvia, Al Mawlawi, Horia, del Valle Nuñez, Cristóbal J, Servant, Nadège, Lumbroso, Serge, Paris, Françoise, Sultan, Charles

“…In this cohort of 55 patients with 5α-reductase deficiency, we demonstrate a wide spectrum of phenotypes and biological profiles, whatever their geographical…”
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Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders by Demars, Julie, Shmela, Mansur Ennuri, Rossignol, Sylvie, Okabe, Jun, Netchine, Irène, Azzi, Salah, Cabrol, Sylvie, Le Caignec, Cédric, David, Albert, Le Bouc, Yves, El-Osta, Assam, Gicquel, Christine

“…The imprinted expression of the IGF2 and H19 genes is controlled by the imprinting control region 1 (ICR1) located at chromosome 11p15.5. This…”
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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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Loss of constitutive activity of the growth hormone secretagogue receptor in familial short stature by Pantel, Jacques, Legendre, Marie, Cabrol, Sylvie, Hilal, Latifa, Hajaji, Yassir, Morisset, Séverine, Nivot, Sylvie, Vie-Luton, Marie-Pierre, Grouselle, Dominique, de Kerdanet, Marc, Kadiri, Abdelkrim, Epelbaum, Jacques, Le Bouc, Yves, Amselem, Serge

“…The growth hormone (GH) secretagogue receptor (GHSR) was cloned as the target of a family of synthetic molecules endowed with GH release properties. As shown…”
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Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys by Martinerie, Laetitia, Morel, Yves, Gay, Claire-Lise, Pienkowski, Catherine, de Kerdanet, Marc, Cabrol, Sylvie, Lecointre, Claudine, Coutant, Regis, Baron, Sabine, Colle, Michel, Brauner, Raja, Thibaud, Elisabeth, Leger, Juliane, Nihoul-Fekete, Claire, Bouvattier, Claire

“…ContextGender assignment followed by surgery and hormonal therapy is a difficult decision in the management of 45,X/46,XY patients with abnormal external…”
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Experience with Intraamniotic Thyroxine Treatment in Nonimmune Fetal Goitrous Hypothyroidism in 12 Cases by Ribault, Virginie, Castanet, Mireille, Bertrand, Anne-Marie, Guibourdenche, Jean, Vuillard, Edith, Luton, Dominique, Polak, Michel

“…Context: Nonimmune fetal goitrous hypothyroidism is a rare condition that can induce obstetrical and/or neonatal complications and neurodevelopmental…”
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Natural history and management of congenital hypothyroidism with in situ thyroid gland by Castanet, Mireille, Goischke, Alexandra, Léger, Juliane, Thalassinos, Caroline, Rodrigue, Daniele, Cabrol, Sylvie, Zenaty, D, al-Harbi, M, Polak, Michel, Czernichow, Paul

“…Normally sited glands account for increasing congenital hypothyroidism (CH). Mechanisms often remain unknown. To report the incidence of CH with in situ…”
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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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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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