Gangliocytoma: outcome of a rare silent pituitary tumour

Por Donadille, Bruno, Villa, Chiara, Gaillard, Stephan, Christin-Maitre, Sophie
Publicado no BMJ Case Rep (2017)

Human 3beta-hydroxysteroid dehydrogenase deficiency associated with normal spermatic numeration despite a severe enzyme deficit

Por Donadille, Bruno, Houang, Muriel, Netchine, Irène, Siffroi, Jean-Pierre, Christin-Maitre, Sophie
Publicado no Endocr Connect (2018)

Nucleocytoplasmic shuttling of the progesterone receptor.

Por Guiochon-Mantel, A, Lescop, P, Christin-Maitre, S, Loosfelt, H, Perrot-Applanat, M, Milgrom, E
Publicado em 1991

Severe Congenital Adrenal Hyperplasia Presenting as Bilateral Testicular Tumors and Azoospermia in the Third Decade of Life

Por Sarfati, Julie, Vatier, Camille, Keller, Isabelle, Guéchot, Jérome, Bellanné-Chantelot, Christine, Christin-Maitre, Sophie
Publicado no J Endocr Soc (2018)

FOXL2 mutation screening in a large panel of POF patients and XX males

Por De Baere, E, Lemercier, B, Christin-Maitre, S, Durval, D, Messiaen, L, Fellous, M, Veitia, R
Publicado em 2002

Birth after TESE–ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutation

Por Frapsauce, C., Ravel, C., Legendre, M., Sibony, M., Mandelbaum, J., Donadille, B., Achermann, J.C., Siffroi, J.-P., Christin-Maitre, S.
Publicado em 2011

Steroidogenic enzyme profile in an androgen-secreting adrenocortical oncocytoma associated with hirsustism

Por Tetsi Nomigni, Milène, Ouzounian, Sophie, Benoit, Alice, Vadrot, Jacqueline, Tissier, Frédérique, Renouf, Sylvie, Lefebvre, Hervé, Christin-Maitre, Sophie, Louiset, Estelle
Publicado no Endocr Connect (2015)

A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism

Por Tabarin, Antoine, Achermann, John C., Recan, Dominique, Bex, Véronique, Bertagna, Xavier, Christin-Maitre, Sophie, Ito, Masafumi, Jameson, J. Larry, Bouchard, Philippe
Publicado em 2000

A new LH receptor splice mutation responsible for male hypogonadism with subnormal sperm production in the propositus, and infertility with regular cycles in an affected sister

Por Bruysters, M., Christin-Maitre, S., Verhoef-Post, M., Sultan, C., Auger, J., Faugeron, I., Larue, L., Lumbroso, S., Themmen, A.P.N., Bouchard, P.
Publicado em 2008

Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation

Por Bernard, Valérie, Kherra, Sakina, Francou, Bruno, Fagart, Jérôme, Viengchareun, Say, Guéchot, Jérôme, Ladjouze, Asmahane, Guiochon-Mantel, Anne, Korach, Kenneth S., Binart, Nadine, Lombès, Marc, Christin-Maitre, Sophie
Publicado no J Clin Endocrinol Metab (2016)

Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome

Por Donadille, Bruno, D’Anella, Pascal, Auclair, Martine, Uhrhammer, Nancy, Sorel, Marc, Grigorescu, Romulus, Ouzounian, Sophie, Cambonie, Gilles, Boulot, Pierre, Laforêt, Pascal, Carbonne, Bruno, Christin-Maitre, Sophie, Bignon, Yves-Jean, Vigouroux, Corinne
Publicado em 2013

Genome-Wide Linkage in a Highly Consanguineous Pedigree Reveals Two Novel Loci on Chromosome 7 for Non-Syndromic Familial Premature Ovarian Failure

Por Caburet, Sandrine, Zavadakova, Petra, Ben-Neriah, Ziva, Bouhali, Kamal, Dipietromaria, Aurélie, Charon, Céline, Besse, Céline, Laissue, Paul, Chalifa-Caspi, Vered, Christin-Maitre, Sophie, Vaiman, Daniel, Levi, Giovanni, Veitia, Reiner A., Fellous, Marc
Publicado em 2012

Human Male Infertility Associated with Mutations in NR5A1Encoding Steroidogenic Factor 1

Por Bashamboo, Anu, Ferraz-de-Souza, Bruno, Lourenço, Diana, Lin, Lin, Sebire, Neil J., Montjean, Debbie, Bignon-Topalovic, Joelle, Mandelbaum, Jacqueline, Siffroi, Jean-Pierre, Christin-Maitre, Sophie, Radhakrishna, Uppala, Rouba, Hassan, Ravel, Celia, Seeler, Jacob, Achermann, John C., McElreavey, Ken
Publicado em 2010

Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1

Por Bashamboo, Anu, Ferraz-de-Souza, Bruno, Lourenço, Diana, Lin, Lin, Sebire, Neil J., Montjean, Debbie, Bignon-Topalovic, Joelle, Mandelbaum, Jacqueline, Siffroi, Jean-Pierre, Christin-Maitre, Sophie, Radhakrishna, Uppala, Rouba, Hassan, Ravel, Celia, Seeler, Jacob, Achermann, John C., McElreavey, Ken
Publicado em 2010

Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

Por Beysen, D., Raes, J., Leroy, B. P., Lucassen, A., Yates, J. R. W., Clayton-Smith, J., Ilyina, H., Brooks, S. Sklower, Christin-Maitre, S., Fellous, M., Fryns, J. P., Kim, J. R., Lapunzina, P., Lemyre, E., Meire, F., Messiaen, L. M., Oley, C., Splitt, M., Thomson, J., Peer, Y. Van de, Veitia, R. A., De Paepe, A., De Baere, E.
Publicado em 2005

Dunnigan lipodystrophy syndrome: French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins)

Por H. Mosbah, B. Donadille, C. Vatier, S. Janmaat, M. Atlan, C. Badens, P. Barat, S. Béliard, J. Beltrand, R. Ben Yaou, E. Bismuth, F. Boccara, B. Cariou, M. Chaouat, G. Charriot, S. Christin-Maitre, M. De Kerdanet, B. Delemer, E. Disse, N. Dubois, B. Eymard, B. Fève, O. Lascols, P. Mathurin, E. Nobécourt, A. Poujol-Robert, G. Prevost, P. Richard, J. Sellam, I. Tauveron, D. Treboz, B. Vergès, V. Vermot-Desroches, K. Wahbi, I. Jéru, M. C. Vantyghem, C. Vigouroux
Publicado em 2022-04-01

Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

Por Portnoi, Marie-France, Dumargne, Marie-Charlotte, Rojo, Sandra, Witchel, Selma F, Duncan, Andrew J, Eozenou, Caroline, Bignon-Topalovic, Joelle, Yatsenko, Svetlana A, Rajkovic, Aleksandar, Reyes-Mugica, Miguel, Almstrup, Kristian, Fusee, Leila, Srivastava, Yogesh, Chantot-Bastaraud, Sandra, Hyon, Capucine, Louis-Sylvestre, Christine, Validire, Pierre, de Malleray Pichard, Caroline, Ravel, Celia, Christin-Maitre, Sophie, Brauner, Raja, Rossetti, Raffaella, Persani, Luca, Charreau, Eduardo H, Dain, Liliana, Chiauzzi, Violeta A, Mazen, Inas, Rouba, Hassan, Schluth-Bolard, Caroline, MacGowan, Stuart, McLean, W H Irwin, Patin, Etienne, Rajpert-De Meyts, Ewa, Jauch, Ralf, Achermann, John C, Siffroi, Jean-Pierre, McElreavey, Ken, Bashamboo, Anu
Publicado no Hum Mol Genet (2018)