Not logged inGonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD
Sepich, Margherita; Bertelloni, Silvano; Tyutyusheva, Nina; Lucas-Herald, Angela; Mazen, Inas; Cools, Martine; Van Paemel, Ruben; Poyrazoglu, Sukran; Hiort, Olaf; Dohnert, Ulla; Neumann, Uta; Phan-Hug, Franziska; Atapattu, Navoda; Seneviratne, Sumudu; Markosyan, Renata; Rey, Rodolfo; Suco, Sofia; Baronio, Federico; Lichiardopol, Corina; Verkauskas, Gilvydas; Stancampiano, Marianna; Russo, Gianni; Konrad, Daniel; Lenherr-Taube, Nina; Hannema, Sabine; Gazdagh, Gabriella; Peroni, Diego; Ahmed, Syed Faisal .png)
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SaveContinuity of care in Klinefelter syndrome: age-adapted modules for standardized clinical data collection (I-KS)Grasemann, Corinna; Gravholt, Claus H.; Breen, Lexi; Aksglaede, Lise; Lucas-Herald, Angela; Alimussina, Malika; Boettcher, Claudia; Wernsmann, Joline; Bauer, Jens J.; Bryce, Jillian; Carlomagno, Francesco; Hannema, Sabine E.; Isidori, Andrea; Mazen, Inas; Nordenstroem, Anna; Ahmed, S. Faisal Share Save In vitro cellular reprogramming to model gonad development and its disordersGonen, Nitzan; Eozenou, Caroline; Mitter, Richard; Elzaiat, Maeva; Stevant, Isabelle; Aviram, Rona; Bernardo, Andreia Sofia; Chervova, Almira; Wankanit, Somboon; Frachon, Emmanuel; Commere, Pierre-Henri; Brailly-Tabard, Sylvie; Valon, Leo; Cano, Laura Barrio; Levayer, Romain; Mazen, Inas; Gobaa, Samy; Smith, James C.; McElreavey, Kenneth; Lovell-Badge, Robin; Bashamboo, Anu Share Save Share Save Gonadectomy in conditions affecting sex development: a registry-based cohort studyLucas-Herald, Angela K.; Bryce, Jillian; Kyriakou, Andreas; Ljubicic, Marie Lindhardt; Arlt, Wiebke; Audi, Laura; Balsamo, Antonio; Baronio, Federico; Bertelloni, Silvano; Bettendorf, Markus; Brooke, Antonia; van der Grinten, Hedi L. Claahsen; Davies, Justin H.; Hermann, Gloria; de Vries, Liat; Hughes, Ieuan A.; Tadokoro-Cuccaro, Rieko; Darendeliler, Feyza; Poyrazoglu, Sukran; Ellaithi, Mona; Evliyaoglu, Olcay; Fica, Simone; Nedelea, Lavinia; Gawlik, Aneta; Globa, Evgenia; Zelinska, Nataliya; Guran, Tulay; Guven, Ayla; Hannema, Sabine E.; Hiort, Olaf; Holterhus, Paul-Martin; Iotova, Violeta; Mladenov, Vilhelm; Jain, Vandana; Sharma, Rajni; Jennane, Farida; Johnston, Colin; Guerra Junior, Gil; Konrad, Daniel; Gaisl, Odile; Krone, Nils; Krone, Ruth; Lachlan, Katherine; Li, Dejun; Lichiardopol, Corina; Lisa, Lidka; Markosyan, Renata; Mazen, Inas; Mohnike, Klaus; Niedziela, Marek; Nordenstrom, Anna; Rey, Rodolfo; Skaeil, Mars; Tack, Lloyd J. W.; Tomlinson, Jeremy; Weintrob, Naomi; Cools, Martine; Ahmed, S. Faisal Share Save Testis formation in XX individuals resulting from novel pathogenic variants in Wilms' tumor 1 (WT1) geneEozenou, Caroline; Gonen, Nitzan; Touzon, Maria Sol; Jorgensen, Anne; Yatsenko, Svetlana A.; Fusee, Leila; Kamel, Alaa K.; Gellen, Balazs; Guercio, Gabriela; Singh, Priti; Witchel, Selma; Berman, Andrea J.; Mainpal, Rana; Totonchi, Mehdi; Meybodi, Anahita Mohseni; Askari, Masomeh; Merel-Chali, Tiphanie; Bignon-Topalovic, Joelle; Migale, Roberta; Costanzo, Mariana; Marino, Roxana; Ramirez, Pablo; Garrido, Natalia Perez; Berensztein, Esperanza; Mekkawy, Mona K.; Schimenti, John C.; Bertalan, Rita; Mazen, Inas; McElreavey, Ken; Belgorosky, Alicia; Lovell-Badge, Robin; Rajkovic, Aleksandar; Bashamboo, Anu Share Save Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndromeMcElreavey, Ken; Jorgensen, Anne; Eozenou, Caroline; Merel, Tiphanie; Bignon-Topalovic, Joelle; Tan, Daisylyn Senna; Houzelstein, Denis; Buonocore, Federica; Warr, Nick; Kay, Raissa G. G.; Peycelon, Matthieu; Siffroi, Jean-Pierre; Mazen, Inas; Achermann, John C.; Shcherbak, Yuliya; Leger, Juliane; Sallai, Agnes; Carel, Jean-Claude; Martinerie, Laetitia; Le Ru, Romain; Conway, Gerard S.; Mignot, Brigitte; Van Maldergem, Lionel; Bertalan, Rita; Globa, Evgenia; Brauner, Raja; Jauch, Ralf; Nef, Serge; Greenfield, Andy; Bashamboo, Anu Share Save Share Save Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomaliesPortnoi, 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; Pichard, Caroline de Malleray; 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 Share Save Biochemical Analysis of Four Missense Mutations in the HSD17B3 Gene Associated With 46,XY Disorders of Sex Development in Egyptian PatientsEngeli, Roger T.; Tsachaki, Maria; Hassan, Heba A.; Sager, Christoph P.; Essawi, Mona L.; Gad, Yehia Z.; Kamel, Alaa K.; Mazen, Inas; Odermatt, Alex Share Save Severe Early-Onset Obesity Due to Bioinactive Leptin Caused by a p.N103K Mutation in the Leptin GeneWabitsch, Martin; Funcke, Jan-Bernd; von Schnurbein, Julia; Denzer, Friederike; Lahr, Georgia; Mazen, Inas; El-Gammal, Mona; Denzer, Christian; Moss, Anja; Debatin, Klaus-Michael; Gierschik, Peter; Mistry, Vanisha; Keogh, Julia M.; Farooqi, I. Sadaf; Moepps, Barbara; Fischer-Posovszky, Pamela Share Save Changes Over Time in Sex Assignment for Disorders of Sex DevelopmentKolesinska, Zofia; Ahmed, S. Faisal; Niedziela, Marek; Bryce, Jillian; Molinska-Glura, Marta; Rodie, Martina; Jiang, Jipu; Sinnott, Richard O.; Hughes, Ieuan A.; Darendeliler, Feyza; Hiort, Olaf; van der Zwan, Yvonne; Cools, Martine; Guran, Tulay; Holterhus, Paul-Martin; Bertelloni, Silvano; Lisa, Lidka; Arlt, Wiebke; Krone, Nils; Ellaithi, Mona; Balsamo, Antonio; Mazen, Inas; Nordenstrom, Anna; Lachlan, Katherine; Alkhawari, Mona; Chatelain, Pierre; Weintrob, Naomi Share Save Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46, XY disorders of sex developmentTantawy, Sally; Mazen, Inas; Soliman, Hala; Anwar, Ghada; Atef, Abeer; El-Gammal, Mona; El-Kotoury, Ahmed; Mekkawy, Mona; Torky, Ahmad; Rudolf, Agnes; Schrumpf, Pamela; Grueters, Annette; Krude, Heiko; Dumargne, Marie-Charlotte; Astudillo, Rebekka; Bashamboo, Anu; Biebermann, Heike; Koehler, Birgit Share Save Share Save Share Save Phenotypical, Biological, and Molecular Heterogeneity of 5α-Reductase Deficiency: An Extensive International Experience of 55 PatientsMaimoun, Laurent; Philibert, Pascal; Cammas, Benoit; Audran, Francoise; Bouchard, Philippe; Fenichel, Patrick; Cartigny, Maryse; Pienkowski, Catherine; Polak, Michel; Skordis, Nicos; Mazen, Inas; Ocal, Gonul; Berberoglu, Merih; Reynaud, Rachel; Baumann, Clarisse; Cabrol, Sylvie; Simon, Dominique; Kayemba-Kay's, Kabangu; De Kerdanet, Marc; Kurtz, Francois; Leheup, Bruno; Heinrichs, Claudine; Tenoutasse, Sylvie; Van Vliet, Guy; Grueters, Annette; Eunice, Marumudi; Ammini, Ariachery C.; Hafez, Mona; Hochberg, Ze'ev; Einaudi, Sylvia; Al Mawlawi, Horia; del Valle Nunez, Cristobal J.; Servant, Nadege; Lumbroso, Serge; Paris, Francoise; Sultan, Charles Share Save Share Save The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiencyKoehler, Birgit; Lin, Lin; Mazen, Inas; Cetindag, Cigdem; Biebermann, Heike; Akkurt, Ilker; Rossi, Rainer; Hiort, Olaf; Grueters, Annette; Achermann, John C. Share Save A new mutation of the androgen receptor, P817A, causing partial androgen insensitivity syndrome:: in vitro and structural analysisLumbroso, S; Wagschal, A; Bourguet, W; Georget, V; Mazen, I; Servant, N; Audran, F; Sultan, C; Auzou, G Share Save Share Save 
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