Resumption of Ovarian Function and Pregnancies in 358 Patients with Premature Ovarian Failure
Bidet, Maud, Bachelot, Anne, Bissauge, Estelle, Golmard, Jean Louis, Gricourt, Solenne, Dulon, Jérôme, Coussieu, Christiane, Badachi, Yasmina, Touraine, Philippe
Published in The journal of clinical endocrinology and metabolism (01.12.2011)
Published in The journal of clinical endocrinology and metabolism (01.12.2011)
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Journal Article
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: update in 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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Journal Article
Long‐term outcome of ovarian function in women with intermittent premature ovarian insufficiency
Bachelot, Anne, Nicolas, Carole, Bidet, Maud, Dulon, Jérôme, Leban, Monique, Golmard, Jean Louis, Polak, Michel, Touraine, Philippe
Published in Clinical endocrinology (Oxford) (01.02.2017)
Published in Clinical endocrinology (Oxford) (01.02.2017)
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Journal Article
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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Journal Article
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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Journal Article
Effects of mitotane on testicular adrenal rest tumors in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective series of five patients
Bachelot, Anne, Lapoirie, Marion, Dulon, Jérôme, Leban, Monique, Renard Penna, Raphaële, Touraine, Philippe
Published in European journal of endocrinology (01.03.2021)
Published in European journal of endocrinology (01.03.2021)
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Journal Article
Whole exome sequencing reveals copy number variants in individuals with disorders of sex development
Sreenivasan, Rajini, Bell, Katrina, van den Bergen, Jocelyn, Robevska, Gorjana, Belluoccio, Daniele, Dahiya, Rachana, Leong, Gary M., Dulon, Jérôme, Touraine, Philippe, Tucker, Elena J., Ayers, Katie, Sinclair, Andrew
Published in Molecular and cellular endocrinology (15.04.2022)
Published in Molecular and cellular endocrinology (15.04.2022)
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Journal Article
TP63‐truncating variants cause isolated premature ovarian insufficiency
Tucker, Elena J., Jaillard, Sylvie, Grover, Sonia R., Bergen, Jocelyn, Robevska, Gorjana, Bell, Katrina M, Sadedin, Simon, Hanna, Chloe, Dulon, Jérôme, Touraine, Philippe, Sinclair, Andrew H.
Published in Human mutation (01.07.2019)
Published in Human mutation (01.07.2019)
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Journal Article
Sperm cryopreservation in young males with congenital adrenal hyperplasia (CAH)
Chougar, Taous, Laanani, Moussa, Ferreux, Lucile, Chalas, Céline, Wolf, Jean‐Philippe, Bertherat, Jérôme, Bouvattier, Claire, Polak, Michel, Bachelot, Anne, Dulon, Jérôme, Touraine, Philippe, Patrat, Catherine, Drouineaud, Véronique
Published in Clinical endocrinology (Oxford) (01.12.2022)
Published in Clinical endocrinology (Oxford) (01.12.2022)
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Journal Article
Determining clinical and biological indicators for health outcomes in adult patients with childhood onset of congenital adrenal hyperplasia
Bachelot, Anne, Golmard, Jean Louis, Dulon, Jérôme, Dahmoune, Nora, Leban, Monique, Bouvattier, Claire, Cabrol, Sylvie, Leger, Juliane, Polak, Michel, Touraine, Philippe
Published in European journal of endocrinology (01.08.2015)
Published in European journal of endocrinology (01.08.2015)
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Journal Article
Biallelic FANCA variants detected in sisters with isolated premature ovarian insufficiency
Tucker, Elena J., Sharp, Michael F., Lokchine, Anna, Bell, Katrina M., Palmer, Catherine S., Kline, Brianna L., Robevska, Gorjana, Bergen, Jocelyn, Dulon, Jérôme, Stojanovski, Diana, Ayers, Katie L., Touraine, Philippe, Crismani, Wayne, Jaillard, Sylvie, Sinclair, Andrew H.
Published in Clinical genetics (01.09.2024)
Published in Clinical genetics (01.09.2024)
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Journal Article
Early central blood pressure elevation in adult patients with 21-hydroxylase deficiency
Rosenbaum, David, Gallo, Antonio, Lethielleux, Gaelle, Bruckert, Eric, Levy, Bernard I, Tanguy, Marie Laure, Dulon, Jérôme, Dahmoune, Nora, Salem, Joe Elie, Bittar, Randa, Leban, Monique, Girerd, Xavier, Touraine, Philippe, Bachelot, Anne
Published in Journal of hypertension (01.01.2019)
Published in Journal of hypertension (01.01.2019)
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Journal Article
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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Journal Article
NR5A1 (SF-1) Mutations Are Not a Major Cause of Primary Ovarian Insufficiency
Voican, Adela, Bachelot, Anne, Bouligand, Jérôme, Francou, Bruno, Dulon, Jérôme, Lombès, Marc, Touraine, Philippe, Guiochon-Mantel, Anne
Published in The journal of clinical endocrinology and metabolism (01.05.2013)
Published in The journal of clinical endocrinology and metabolism (01.05.2013)
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Journal Article
Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency
Chakhtoura, Zeina, Bachelot, Anne, Samara-Boustani, Dinane, Ruiz, Jean-Charles, Donadille, Bruno, Dulon, Jérôme, Christin-Maître, Sophie, Bouvattier, Claire, Raux-Demay, Marie-Charles, Bouchard, Philippe, Carel, Jean-Claude, Leger, Juliane, Kuttenn, Frédérique, Polak, Michel, Touraine, Philippe
Published in European journal of endocrinology (01.06.2008)
Published in European journal of endocrinology (01.06.2008)
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Journal Article
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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Journal Article
A common African variant of human connexin 37 is associated with Caucasian primary ovarian insufficiency and has a deleterious effect in vitro
Bachelot, Anne, Gilleron, Jerome, Meduri, Geri, Guberto, Mihelai, Dulon, Jerome, Boucherie, Sylviane, Touraine, Philippe, Misrahi, Micheline
Published in International journal of molecular medicine (01.02.2018)
Published in International journal of molecular medicine (01.02.2018)
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Journal Article
Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency
Kline, Brianna L, Jaillard, Sylvie, Bell, Katrina M, Bakhshalizadeh, Shabnam, Robevska, Gorjana, van den Bergen, Jocelyn, Dulon, Jérôme, Ayers, Katie L, Christodoulou, John, Tchan, Michel C, Touraine, Philippe, Sinclair, Andrew H, Tucker, Elena J
Published in Genes (14.11.2022)
Published in Genes (14.11.2022)
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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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