Search Results - "Philippe Touraine"

Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum by Tucker, Elena J, Grover, Sonia R, Bachelot, Anne, Touraine, Philippe, Sinclair, Andrew H

“…Premature ovarian insufficiency (POI) is one form of female infertility, defined by loss of ovarian activity before the age of 40 and characterized by…”
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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management by Claahsen - van der Grinten, Hedi L, Speiser, Phyllis W, Ahmed, S Faisal, Arlt, Wiebke, Auchus, Richard J, Falhammar, Henrik, Flück, Christa E, Guasti, Leonardo, Huebner, Angela, Kortmann, Barbara B M, Krone, Nils, Merke, Deborah P, Miller, Walter L, Nordenström, Anna, Reisch, Nicole, Sandberg, David E, Stikkelbroeck, Nike M M L, Touraine, Philippe, Utari, Agustini, Wudy, Stefan A, White, Perrin C

“…Abstract Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting cortisol biosynthesis. Reduced activity of an enzyme…”
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MCM8 and MCM9 Nucleotide Variants in Women with Primary Ovarian Insufficiency by Desai, Swapna, Wood-Trageser, Michelle, Matic, Jelena, Chipkin, Jaqueline, Jiang, Huaiyang, Bachelot, Anne, Dulon, Jerome, Sala, Cinzia, Barbieri, Caterina, Cocca, Massimiliano, Toniolo, Daniela, Philippe, Touraine, Witchel, Selma, Rajkovic, Aleksandar

“…Objective: To assess the frequency of variants, including biallelic pathogenic variants, in MCM8 and MCM9, other genes related to MCM8/9 and DNA damage repair…”
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New concepts in prolactin biology by Bernichtein, Sophie, Touraine, Philippe, Goffin, Vincent

“…Human prolactin (PRL) is currently viewed as a hormone of pituitary origin, whose production (i.e. serum levels) is controlled by dopamine, whose biological…”
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Long-term outcomes of lentiviral gene therapy for the β-hemoglobinopathies: the HGB-205 trial by Magrin, Elisa, Semeraro, Michaela, Hebert, Nicolas, Joseph, Laure, Magnani, Alessandra, Chalumeau, Anne, Gabrion, Aurélie, Roudaut, Cécile, Marouene, Jouda, Lefrere, Francois, Diana, Jean-Sebastien, Denis, Adeline, Neven, Bénédicte, Funck-Brentano, Isabelle, Negre, Olivier, Renolleau, Sylvain, Brousse, Valentine, Kiger, Laurent, Touzot, Fabien, Poirot, Catherine, Bourget, Philippe, El Nemer, Wassim, Blanche, Stéphane, Tréluyer, Jean-Marc, Asmal, Mohammed, Walls, Courtney, Beuzard, Yves, Schmidt, Manfred, Hacein-Bey-Abina, Salima, Asnafi, Vahid, Guichard, Isabelle, Poirée, Maryline, Monpoux, Fabrice, Touraine, Philippe, Brouzes, Chantal, de Montalembert, Mariane, Payen, Emmanuel, Six, Emmanuelle, Ribeil, Jean-Antoine, Miccio, Annarita, Bartolucci, Pablo, Leboulch, Philippe, Cavazzana, Marina

“…Sickle cell disease (SCD) and transfusion-dependent β-thalassemia (TDT) are the most prevalent monogenic disorders worldwide. Trial HGB-205 ( NCT02151526 )…”
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Infertility with hypogonadotropic hypogonadism revealing a classic form of 21 hydroxylase deficiency in a 39 year-old man by Ilboudo, Alassane, Yempabou, Sagna, Sophie, Dubreuil, Philippe, Touraine, Courtillot, Carine

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A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss by Ullah, Farid, Rauf, Waqar, Khan, Kamal, Khan, Sheraz, Bell, Katrina M., de Oliveira, Vanessa Cristina, Tariq, Muhammad, Bakhshalizadeh, Shabnam, Touraine, Philippe, Katsanis, Nicholas, Sinclair, Andrew, He, Sijie, Tucker, Elena J., Baig, Shahid M., Davis, Erica E.

“…Mitochondrial disorders are collectively common, genetically heterogeneous disorders in both pediatric and adult populations. They are caused by molecular…”
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Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes by Tucker, Elena J, Bell, Katrina M, Robevska, Gorjana, van den Bergen, Jocelyn, Ayers, Katie L, Listyasari, Nurin, Faradz, Sultana Mh, Dulon, Jérôme, Bakhshalizadeh, Shabnam, Sreenivasan, Rajini, Nouyou, Benedicte, Carre, Wilfrid, Akloul, Linda, Duros, Solène, Domin-Bernhard, Mathilde, Belaud-Rotureau, Marc-Antoine, Touraine, Philippe, Jaillard, Sylvie, Sinclair, Andrew H

“…Premature ovarian insufficiency (POI), affecting 1 in 100 women, is characterised by loss of ovarian function associated with elevated gonadotropin, before the…”
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Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM) by Tucker, Elena J., Rius, Rocio, Jaillard, Sylvie, Bell, Katrina, Lamont, Phillipa J., Travessa, André, Dupont, Juliette, Sampaio, Lurdes, Dulon, Jérôme, Vuillaumier-Barrot, Sandrine, Whalen, Sandra, Isapof, Arnaud, Stojkovic, Tanya, Quijano-Roy, Susana, Robevska, Gorjana, van den Bergen, Jocelyn, Hanna, Chloe, Simpson, Andrea, Ayers, Katie, Thorburn, David R., Christodoulou, John, Touraine, Philippe, Sinclair, Andrew H.

“…Perrault syndrome is a rare heterogeneous condition characterised by sensorineural hearing loss and premature ovarian insufficiency. Additional neuromuscular…”
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Poor Compliance to Hormone Therapy and Decreased Bone Mineral Density in Women with Premature Ovarian Insufficiency by Bachelot, Anne, Nicolas, Carole, Gricourt, Solenne, Dulon, Jérôme, Leban, Monique, Golmard, Jean Louis, Touraine, Philippe

“…Premature ovarian insufficiency leads to through infertility and estrogen deficiency. Optimal management encompasses estrogen replacement therapy. Long-term…”
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Normal-high IGF-1 level improves pregnancy rate after ovarian stimulation in women treated with growth hormone replacement therapy by Ly, Nathalie, Dubreuil, Sophie, Touraine, Philippe

“…Objective Growth hormone (GH) and insulin-like growth factors (IGFs) are not mandatory for reproductive life, but data suggest their synergistic action with…”
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Post-transplant outcome of ovarian tissue cryopreserved after chemotherapy in hematologic malignancies by Poirot, Catherine, Fortin, Anne, Dhédin, Nathalie, Brice, Pauline, Socié, Gérard, Lacorte, Jean-Marc, Akakpo, Jean-Paul, Genestie, Catherine, Vernant, Jean-Paul, Leblanc, Thierry, Gabarre, Jean, Delmer, Alain, Badachi, Yasmina, Drouineaud, Véronique, Chalas, Céline, Egels, Sophie, Touraine, Philippe, Dommergues, Marc, Lebègue, Géraldine, Wolf, Jean-Philippe, Capron, Frédérique, Lefebvre, Gilles, Boissel, Nicolas

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Effect of congenital adrenal hyperplasia treated by glucocorticoids on plasma metabolome: a machine-learning-based analysis by Nguyen, Lee S., Prifti, Edi, Ichou, Farid, Leban, Monique, Funck-Brentano, Christian, Touraine, Philippe, Salem, Joe-Elie, Bachelot, Anne

“…Background. Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency leads to impaired cortisol biosynthesis. Treatment includes glucocorticoid…”
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An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature by Lerat, Justine, Jonard, Laurence, Loundon, Natalie, Christin-Maitre, Sophie, Lacombe, Didier, Goizet, Cyril, Rouzier, Cécile, Van Maldergem, Lionel, Gherbi, Souad, Garabedian, Eréa-Nöel, Bonnefont, Jean- Paul, Touraine, Philippe, Mosnier, Isabelle, Munnich, Arnold, Denoyelle, Françoise, Marlin, Sandrine

“…ABSTRACT Perrault syndrome (PS) is a rare autosomal recessive condition characterized by deafness and gonadic dysgenesis. Recently, mutations in five genes…”
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Modified-release hydrocortisone is associated with lower plasma renin activity in patients with salt-wasting congenital adrenal hyperplasia by Tschaidse, Lea, Reisch, Nicole, Arlt, Wiebke, Brac de la Perriere, Aude, Linden Hirschberg, Angelica, Juul, Anders, Mallappa, Ashwini, Merke, Deborah P, Newell-Price, John D C, Perry, Colin G, Prete, Alessandro, Rees, D Aled, Stikkelbroeck, Nike M M L, Touraine, Philippe A, Coope, Helen, Porter, John, Ross, Richard John M, Quinkler, Marcus

“…Poorly controlled salt-wasting (SW) congenital adrenal hyperplasia (CAH) patients often require high 9α-fluorocortisol doses as they show high levels of…”
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Markers of Recurrence and Long-Term Morbidity in Craniopharyngioma: A Systematic Analysis of 171 Patients by Gautier, Alain, Godbout, Ariane, Grosheny, Catherine, Tejedor, Isabelle, Coudert, Mathieu, Courtillot, Carine, Jublanc, Christel, De Kerdanet, Marc, Poirier, Jean-Yves, Riffaud, Laurent, Sainte-Rose, Christian, Van Effenterre, Remy, Brassier, Gilles, Bonnet, Fabrice, Touraine, Philippe, on behalf of the Craniopharyngioma Study Group: Prs. and Drs. Anne Bachelot, Anne-Laure Boch, Raja Brauner, Jean-Claude Carel, Anne Colobert, Hélène Crosnier, Vonny Derennes, Pierre Doyard, Françoise Getin, Isabelle Guilhem, Muriel Hoang, Claire Josseaume, Julianne Leger, Sylvie Nivot, Christian Pauwels, Graziella Pinto, Michel Polak, Raphaël Rappaport, Dinane Samara, Sylvie Sauvion, Caroline Thalassinos, and Elisabeth Thibaud

“…Context: Craniopharyngiomas are often associated with an unfavorable prognosis, but data on their long-term consequences are sparse. Objective: The aim of the…”
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MANAGEMENT OF ENDOCRINE DISEASE: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update on the management of adult patients and prenatal treatment by Bachelot, Anne, Grouthier, Virginie, Courtillot, Carine, Dulon, Jérôme, Touraine, Philippe

“…Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is characterized by cortisol and in some cases aldosterone deficiency associated with…”
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Paul Kelly, PhD (1943–2018) by Goffin, Vincent, Zingg, Hans H., Sumida, Charlotte, Touraine, Philippe, Friesen, Henry G.

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Primary Adrenal Insufficiency Due to Bilateral Adrenal Hemorrhage-Adrenal Infarction in the Antiphospholipid Syndrome: Long-Term Outcome of 16 Patients by Ramon, Isolde, Mathian, Alexis, Bachelot, Anne, Hervier, Baptiste, Haroche, Julien, Boutin-Le Thi Huong, Du, Costedoat-Chalumeau, Nathalie, Wechsler, Bertrand, Karmali, Rafik, Velkeniers, Brigitte, Touraine, Philippe, Coussieu, Christiane, Bennani, Abdelhai, Renard-Penna, Raphaele, Grenier, Philippe A, Wahl, Denis, Piette, Jean-Charles, Amoura, Zahir

“…Context: Primary adrenal insufficiency due to bilateral adrenal hemorrhage-adrenal infarction is a rare and life-threatening manifestation of the…”
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Age at diagnosis in patients with chronic congenital endocrine conditions: a regional cohort study from a reference center for rare diseases by 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

“…For chronic congenital endocrine conditions, age at diagnosis is a key issue with implications for optimal management and psychological concerns. These…”
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