Search Results - "Sarfati, Julie"

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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Impact of clinical, hormonal, radiological, and immunohistochemical studies on the diagnosis of postmenopausal hyperandrogenism by Sarfati, Julie, Bachelot, Anne, Coussieu, Christiane, Meduri, Géri, Touraine, Philippe

“…ObjectiveEvaluation of postmenopausal women with suspicion of androgen-secreting tumor.Design and patientsWe retrospectively studied 22 postmenopausal women…”
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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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Kallmann syndrome caused by mutations in the PROK2 and PROKR2 genes: pathophysiology and genotype-phenotype correlations by Sarfati, Julie, Dodé, Catherine, Young, Jacques

“…Mutations in the prokineticin 2 peptide (PROK2) and its seven-transmembrane domain type 2 receptor PROKR2 are newly identified molecular culprits in autosomal…”
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Impact of combined and progestogen-only contraceptives on bone mineral density by Sarfati, Julie, de Vernejoul, Marie-Christine

“…Abstract Sex steroids are major determinants of bone mass, and hormonal contraceptives may affect bone mineral density (BMD) in women. Combination…”
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Reproductive Phenotypes in Men With Acquired or Congenital Hypogonadotropic Hypogonadism: A Comparative Study by Maione, Luigi, Sarfati, Julie, Gonfroy-Leymarie, Céline, Salenave, Sylvie, Brailly-Tabard, Sylvie, Chanson, Philippe, Trabado, Séverine, Kaiser, Ursula B, Young, Jacques

“…In men with congenital hypogonadotropic hypogonadism (CHH), gonadotropin deficiency and testicular impairment exist since fetal development and persist…”
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Sex Steroids, Precursors, and Metabolite Deficiencies in Men With Isolated Hypogonadotropic Hypogonadism and Panhypopituitarism: A GCMS-Based Comparative Study by Giton, Frank, Trabado, Séverine, Maione, Luigi, Sarfati, Julie, Le Bouc, Yves, Brailly-Tabard, Sylvie, Fiet, Jean, Young, Jacques

“…Context: Both testicular and adrenal steroid secretions are impaired in men with panhypopituitarism (Hypo-Pit), whereas only testicular steroid secretion is…”
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SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development by Young, Jacques, Metay, Corinne, Bouligand, Jerome, Tou, Bassim, Francou, Bruno, Maione, Luigi, Tosca, Lucie, Sarfati, Julie, Brioude, Frédéric, Esteva, Blandine, Briand-Suleau, Audrey, Brisset, Sophie, Goossens, Michel, Tachdjian, Gerard, Guiochon-Mantel, Anne

“…BACKGROUND Kallmann syndrome (KS) is a genetic disorder associating pubertal failure with congenitally absent or impaired sense of smell. KS is related to…”
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Pituitary stalk interruption and olfactory bulbs aplasia/hypoplasia in a man with Kallmann syndrome and reversible gonadotrope and somatotrope deficiencies by Sarfati, Julie, Saveanu, Alexandru, Young, Jacques

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Efficacy and safety of dopamine agonists in patients treated with antipsychotics and presenting a macroprolactinoma by Allard, Lucie, Albarel, Frédérique, Bertherat, Jérôme, Caron, Philippe Jean, Cortet, Christine, Courtillot, Carine, Delemer, Brigitte, Jublanc, Christel, Maiter, Dominique, Nunes, Marie Laure, Raverot, Gerald, Sarfati, Julie, Salenave, Sylvie, Corruble, Emmanuelle, Choucha, Walid, Chanson, Philippe

“…Context In patients treated with antipsychotics, the rare occurrence of a macroprolactinoma represents a therapeutic challenge. Objective Our aim was to…”
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Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life by Sarfati, Julie, Bouvattier, Claire, Bry-Gauillard, Hélène, Cartes, Alejandra, Bouligand, Jérôme, Young, Jacques

“…Kallmann syndrome (KS) patients carrying FGFR1 mutations can transmit the disorder to their offspring as can asymptomatic female carriers of mutations in KAL1…”
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Hyperandrogenism after menopause : ovarian or adrenal origin? by Sarfati, Julie, Moraillon-Bougerolle, Maud, Maitre, Sophie Christin

“…Postmenopausal hyperandrogenism is an androgen excess originating from either the adrenals and/or the ovaries. Clinically, symptoms can be moderate (increase…”
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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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Heterogeneous Prognoses for pT3 Papillary Thyroid Carcinomas and Impact of Delayed Risk Stratification by Tavarelli, Martina, Sarfati, Julie, Chereau, Nathalie, Tissier, Frederique, Golmard, Jean Louis, Ghander, Cécile, Lussey-Lepoutre, Charlotte, Trésallet, Christophe, Menegaux, Fabrice, Leenhardt, Laurence, Buffet, Camille

“…Papillary thyroid carcinomas (PTC) in the pT3 category constitute a heterogeneous group of tumors with a variable risk of recurrence. The objectives of this…”
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Insulin-like Peptide 3 (INSL3) in Men With Congenital Hypogonadotropic Hypogonadism/Kallmann Syndrome and Effects of Different Modalities of Hormonal Treatment: A Single-Center Study of 281 Patients by Trabado, Séverine, Maione, Luigi, Bry-Gauillard, Hélène, Affres, Hélène, Salenave, Sylvie, Sarfati, Julie, Bouvattier, Claire, Delemer, Brigitte, Chanson, Philippe, Le Bouc, Yves, Brailly-Tabard, Sylvie, Young, Jacques

“…Context: Insulin-like factor 3 (INSL3) is a testicular hormone secreted during fetal life, the neonatal period, and after puberty. Objective: To measure INSL3…”
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Pituitary Adenoma Recurrence Suspected on Central Hyperthyroidism Despite Empty Sella and Confirmed by 68Ga-DOTA-TOC PET/CT by Gauthé, Mathieu, Sarfati, Julie, Bourcigaux, Nathalie, Christin-Maitre, Sophie, Talbot, Jean-Noël, Montravers, Françoise

“…Thyrotropin-secreting pituitary adenomas are very rare tumors, known to present overexpression of somatostatin receptor subtype 2 and which may consequently…”
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Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life by Sarfati, Julie, Vatier, Camille, Keller, Isabelle, Guéchot, Jérome, Bellanné-Chantelot, Christine, Christin-Maitre, Sophie

“…Abstract Classic forms of 21-hydroxylase deficiency (21OHD) are usually diagnosed at birth by salt wasting or precocious puberty in male patients. Here we…”
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Impact of Clinical, Hormonal, Radiological, and Immunohistochemical Studies on the Diagnosis of Postmenopausal Hyperandrogenism by Sarfati, Julie, Bachelot, Anne, Coussieu, Christiane, Meduri, Géri, Touraine, Philippe

“…Postmenopausal biochemical hyperandrogenism occurs rarely. The presence of an underlying tumor in women with this condition may be missed without careful…”
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Congenital hypogonadotropic hypogonadism and Kallmann syndrome as models for studying hormonal regulation of human testicular endocrine functions by Trabado, Séverine, Lamothe, Sophie, Maione, Luigi, Bouvattier, Claire, Sarfati, Julie, Brailly-Tabard, Sylvie, Young, Jacques

“…Abstract Men with Kallmann syndrome (KS) and those with congenital isolated hypogonadotropic hypogonadism with normal olfaction share a chronic, usually…”
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SUN-444 Efficacy and Safety of Dopamine Agonists in Psychiatric Patients Treated with Antipsychotics and Presenting a Macroprolactinoma by Allard, Lucie, Albarel Loy, Frédérique, Bertherat, Jerome, Caron, Philippe, Cortet-Rudelli, Christine, Courtillot, Carine, Delemer, Brigitte, Jublanc, Christel, Maiter, Dominique, Nunes, Marie-Laure, Raverot, Gerald, Salenave, Sylvie, Sarfati, Julie, Chanson, Philippe

“…Dopamine agonists (DAs), which are used as first line therapy in patients with macroprolactinomas, and antipsychotics have opposite effects on D2 dopamine…”
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