Premature Ovarian Insufficiency: New Perspectives on Genetic Cause and Phenotypic Spectrum
Tucker, Elena J, Grover, Sonia R, Bachelot, Anne, Touraine, Philippe, Sinclair, Andrew H
Published in Endocrine reviews (01.12.2016)
Published in Endocrine reviews (01.12.2016)
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Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management
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
Published in Endocrine reviews (01.02.2022)
Published in Endocrine reviews (01.02.2022)
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MCM8 and MCM9 Nucleotide Variants in Women with Primary Ovarian Insufficiency
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
Published in The journal of clinical endocrinology and metabolism (01.02.2017)
Published in The journal of clinical endocrinology and metabolism (01.02.2017)
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New concepts in prolactin biology
Bernichtein, Sophie, Touraine, Philippe, Goffin, Vincent
Published in Journal of endocrinology (01.07.2010)
Published in Journal of endocrinology (01.07.2010)
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Long-term outcomes of lentiviral gene therapy for the β-hemoglobinopathies: the HGB-205 trial
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
Published in Nature medicine (01.01.2022)
Published in Nature medicine (01.01.2022)
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A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss
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.
Published in Human genetics (01.12.2021)
Published in Human genetics (01.12.2021)
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Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes
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
Published in European journal of human genetics : EJHG (01.02.2022)
Published in European journal of human genetics : EJHG (01.02.2022)
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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)
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.
Published in Human genetics (01.10.2020)
Published in Human genetics (01.10.2020)
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Poor Compliance to Hormone Therapy and Decreased Bone Mineral Density in Women with Premature Ovarian Insufficiency
Bachelot, Anne, Nicolas, Carole, Gricourt, Solenne, Dulon, Jérôme, Leban, Monique, Golmard, Jean Louis, Touraine, Philippe
Published in PloS one (01.12.2016)
Published in PloS one (01.12.2016)
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Post-transplant outcome of ovarian tissue cryopreserved after chemotherapy in hematologic malignancies
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
Published in Haematologica (Roma) (01.08.2019)
Published in Haematologica (Roma) (01.08.2019)
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Effect of congenital adrenal hyperplasia treated by glucocorticoids on plasma metabolome: a machine-learning-based analysis
Nguyen, Lee S., Prifti, Edi, Ichou, Farid, Leban, Monique, Funck-Brentano, Christian, Touraine, Philippe, Salem, Joe-Elie, Bachelot, Anne
Published in Scientific reports (01.06.2020)
Published in Scientific reports (01.06.2020)
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An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature
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
Published in Human mutation (01.12.2016)
Published in Human mutation (01.12.2016)
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Modified-release hydrocortisone is associated with lower plasma renin activity in patients with salt-wasting congenital adrenal hyperplasia
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
Published in European journal of endocrinology (10.01.2023)
Published in European journal of endocrinology (10.01.2023)
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Markers of Recurrence and Long-Term Morbidity in Craniopharyngioma: A Systematic Analysis of 171 Patients
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
Published in The journal of clinical endocrinology and metabolism (01.04.2012)
Published in The journal of clinical endocrinology and metabolism (01.04.2012)
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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
Bachelot, Anne, Grouthier, Virginie, Courtillot, Carine, Dulon, Jérôme, Touraine, Philippe
Published in European journal of endocrinology (01.04.2017)
Published in European journal of endocrinology (01.04.2017)
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Paul Kelly, PhD (1943–2018)
Goffin, Vincent, Zingg, Hans H., Sumida, Charlotte, Touraine, Philippe, Friesen, Henry G.
Published in Pituitary (01.02.2019)
Published in Pituitary (01.02.2019)
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Primary Adrenal Insufficiency Due to Bilateral Adrenal Hemorrhage-Adrenal Infarction in the Antiphospholipid Syndrome: Long-Term Outcome of 16 Patients
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
Published in The journal of clinical endocrinology and metabolism (01.08.2013)
Published in The journal of clinical endocrinology and metabolism (01.08.2013)
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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
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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