OR27-02 An Exploration of Novel Clinical Benchmarks for Assessing the Practice of Gonadectomy in Conditions Affecting Sex Development - on Behalf of the I-DSD Consortium

Por Lucas-Herald, Angela K, Bryce, Jillian, Cools, Martine, Ahmed, S Faisal
Publicado no J Endocr Soc (2020)

Consecutive lynestrenol and cross-sex hormone treatment in biological female adolescents with gender dysphoria: a retrospective analysis

Por Tack, Lloyd J. W., Craen, Margarita, Dhondt, Karlien, Vanden Bossche, Heidi, Laridaen, Jolien, Cools, Martine
Publicado no Biol Sex Differ (2016)

Evaluation of DSD training schools organized by cost action BM1303 “DSDnet”

Por Bertalan, R., Lucas-Herald, A., Kolesinska, Z., Berra, M., Cools, Martine, Balsamo, A., Hiort, O.
Publicado no Orphanet J Rare Dis (2018)

Do Surgical Interventions Influence Psychosexual and Cosmetic Outcomes in Women with Disorders of Sex Development?

Por Callens, Nina, van der Zwan, Yvonne G., Drop, Stenvert L. S., Cools, Martine, Beerendonk, Catharina M., Wolffenbuttel, Katja P., Dessens, Arianne B.
Publicado em 2012

Cardiovascular Pathology in Males and Females with 45,X/46,XY Mosaicism

Por De Groote, Katya, Cools, Martine, De Schepper, Jean, Craen, Margarita, François, Inge, Devos, Daniel, Carbonez, Karlien, Eyskens, Benedicte, De Wolf, Daniel
Publicado em 2013

Caring for individuals with a difference of sex development (DSD): a Consensus Statement

Por Cools, Martine, Nordenström, Anna, Robeva, Ralitsa, Hall, Joanne, Westerveld, Puck, Flück, Christa, Köhler, Birgit, Berra, Marta, Springer, Alexander, Schweizer, Katinka, Pasterski, Vickie
Publicado no Nat Rev Endocrinol (2018)

A multi-exon deletion within WWOX is associated with a 46,XY disorder of sex development

Por White, Stefan, Hewitt, Jacqueline, Turbitt, Erin, van der Zwan, Yvonne, Hersmus, Remko, Drop, Stenvert, Koopman, Peter, Harley, Vincent, Cools, Martine, Looijenga, Leendert, Sinclair, Andrew
Publicado em 2012

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

Por Baetens, Dorien, Mladenov, Wilhelm, Delle Chiaie, Barbara, Menten, Björn, Desloovere, An, Iotova, Violeta, Callewaert, Bert, Van Laecke, Erik, Hoebeke, Piet, De Baere, Elfride, Cools, Martine
Publicado no Orphanet J Rare Dis (2014)

Desmopressin Lyophilisate for the Treatment of Central Diabetes Insipidus: First Experience in Very Young Infants

Por De Waele, Kathleen, Cools, Martine, De Guchtenaere, Ann, Van de Walle, Johan, Raes, Ann, Van Aken, Sara, De Coen, Kris, Vanhaesebrouck, Piet, De Schepper, Jean
Publicado no Int J Endocrinol Metab (2014)

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

Por Baetens, Dorien, Stoop, Hans, Peelman, Frank, Todeschini, Anne-Laure, Rosseel, Toon, Coppieters, Frauke, Veitia, Reiner A., Looijenga, Leendert H.J., De Baere, Elfride, Cools, Martine
Publicado no Genet Med (2017)

Cognitive, Emotional, and Psychosocial Functioning of Girls Treated with Pharmacological Puberty Blockage for Idiopathic Central Precocious Puberty

Por Wojniusz, Slawomir, Callens, Nina, Sütterlin, Stefan, Andersson, Stein, De Schepper, Jean, Gies, Inge, Vanbesien, Jesse, De Waele, Kathleen, Van Aken, Sara, Craen, Margarita, Vögele, Claus, Cools, Martine, Haraldsen, Ira R.
Publicado no Front Psychol (2016)

A Recurrent Germline Mutation in the 5’UTR of the Androgen Receptor Causes Complete Androgen Insensitivity by Activating Aberrant uORF Translation

Por Hornig, Nadine C., de Beaufort, Carine, Denzer, Friederike, Cools, Martine, Wabitsch, Martin, Ukat, Martin, Kulle, Alexandra E., Schweikert, Hans-Udo, Werner, Ralf, Hiort, Olaf, Audi, Laura, Siebert, Reiner, Ammerpohl, Ole, Holterhus, Paul-Martin
Publicado no PLoS One (2016)

Androgen Receptor Function Links Human Sexual Dimorphism to DNA Methylation

Por Ammerpohl, Ole, Bens, Susanne, Appari, Mahesh, Werner, Ralf, Korn, Bernhard, Drop, Stenvert L. S., Verheijen, Frans, van der Zwan, Yvonne, Bunch, Trevor, Hughes, Ieuan, Cools, Martine, Riepe, Felix G., Hiort, Olaf, Siebert, Reiner, Holterhus, Paul-Martin
Publicado em 2013

SUN-070 European Registries for Rare Endocrine Conditions (EuRRECa): Results from the Platform for E-reporting of Rare Endocrine Conditions (e-REC)

Por Ali, Salma R, Bryce, Jillian, Cools, Martine, Danne, Thomas, Dattani, Mehul T, Dekkers, Olaf M, Hiort, Olaf, Linglart, Agnes, Netchine, Irene, Nordenstrom, Anna, Patocs, Attila, Pereira, Alberto M, Persani, Luca, Reisch, Nicole, Smyth, Arlene, Sumnik, Zdenek, Taruscio, Domenica, Visser, W Edward, Ahmed, S Faisal
Publicado no J Endocr Soc (2020)

Novel Associations in Disorders of Sex Development: Findings From the I-DSD Registry

Por Cox, Kathryn, Bryce, Jillian, Jiang, Jipu, Rodie, Martina, Sinnott, Richard, Alkhawari, Mona, Arlt, Wiebke, Audi, Laura, Balsamo, Antonio, Bertelloni, Silvano, Cools, Martine, Darendeliler, Feyza, Drop, Stenvert, Ellaithi, Mona, Guran, Tulay, Hiort, Olaf, Holterhus, Paul-Martin, Hughes, Ieuan, Krone, Nils, Lisa, Lidka, Morel, Yves, Soder, Olle, Wieacker, Peter, Ahmed, S. Faisal
Publicado em 2014

Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development

Por van Bever, Yolande, Brüggenwirth, Hennie T, Wolffenbuttel, Katja P, Dessens, Arianne B, Groenenberg, Irene A L, Knapen, Maarten F C M, De Baere, Elfride, Cools, Martine, van Ravenswaaij-Arts, Conny M A, Sikkema-Raddatz, Birgit, Claahsen-van der Grinten, Hedi, Kempers, Marlies, Rinne, Tuula, Hersmus, Remko, Looijenga, Leendert, Hannema, Sabine E
Publicado no J Med Genet (2020)

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism

Por Badiu, Corin, Bonomi, Marco, Borshchevsky, Ivan, Cools, Martine, Craen, Margarita, Ghervan, Cristina, Hauschild, Michael, Hershkovitz, Eli, Hrabovszky, Erik, Juul, Anders, Kim, Soo-Hyun, Kumanov, Phillip, Lecumberri, Beatriz, Lemos, Manuel C., Neocleous, Vassos, Niedziela, Marek, Djurdjevic, Sandra Pekic, Persani, Luca, Phan-Hug, Franziska, Pignatelli, Duarte, Pitteloud, Nelly, Popovic, Vera, Quinton, Richard, Skordis, Nicos, Smith, Neil, Stefanija, Magdalena Avbelj, Xu, Cheng, Young, Jacques, Dwyer, Andrew A.
Publicado no Orphanet J Rare Dis (2017)

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

Por Eggers, Stefanie, Sadedin, Simon, van den Bergen, Jocelyn A., Robevska, Gorjana, Ohnesorg, Thomas, Hewitt, Jacqueline, Lambeth, Luke, Bouty, Aurore, Knarston, Ingrid M., Tan, Tiong Yang, Cameron, Fergus, Werther, George, Hutson, John, O’Connell, Michele, Grover, Sonia R., Heloury, Yves, Zacharin, Margaret, Bergman, Philip, Kimber, Chris, Brown, Justin, Webb, Nathalie, Hunter, Matthew F., Srinivasan, Shubha, Titmuss, Angela, Verge, Charles F., Mowat, David, Smith, Grahame, Smith, Janine, Ewans, Lisa, Shalhoub, Carolyn, Crock, Patricia, Cowell, Chris, Leong, Gary M., Ono, Makato, Lafferty, Antony R., Huynh, Tony, Visser, Uma, Choong, Catherine S., McKenzie, Fiona, Pachter, Nicholas, Thompson, Elizabeth M., Couper, Jennifer, Baxendale, Anne, Gecz, Jozef, Wheeler, Benjamin J., Jefferies, Craig, MacKenzie, Karen, Hofman, Paul, Carter, Philippa, King, Richard I., Krausz, Csilla, van Ravenswaaij-Arts, Conny M. A., Looijenga, Leendert, Drop, Sten, Riedl, Stefan, Cools, Martine, Dawson, Angelika, Juniarto, Achmad Zulfa, Khadilkar, Vaman, Khadilkar, Anuradha, Bhatia, Vijayalakshmi, Dũng, Vũ Chí, Atta, Irum, Raza, Jamal, thi Diem Chi, Nguyen, Hao, Tran Kiem, Harley, Vincent, Koopman, Peter, Warne, Garry, Faradz, Sultana, Oshlack, Alicia, Ayers, Katie L., Sinclair, Andrew H.
Publicado no Genome Biol (2016)