Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development von Kouri, Chrysanthi, Sommer, Grit, Martinez de Lapiscina, Idoia, Elzenaty, Rawda Naamneh, Tack, Lloyd J.W., Cools, Martine, Ahmed, S. Faisal, Flück, Christa E., Abali, Saygin, Abali, Zehra Yavas, Akin, Leyla, Almaraz, Maricruz, Audí, Laura, Aydin, Murat, Balsamo, Antonio, Baronio, Federico, Bryce, Jillian, Busiah, Kanetee, Caimari, Maria, Camats-Tarruella, Núria, Campos-Martorell, Ariadna, Castaño, Luis, Casteràs, Anna, Çetinkaya, Semra, Chan, Yee-Ming, Claahsen-van der Grinten, Hedi L., Costa, Ines, Darendeliler, Fatma Feyza, Davies, Justin H., Esteva, Isabel, Fabbri-Scallet, Helena, Finlayson, Courtney A., Garcia, Emilio, Garcia Cuartero, Beatriz, German, Alina, Globa, Evgenia, Guerra-Junior, Gil, Guerrero, Julio, Guran, Tulay, Hannema, Sabine E., Hiort, Olaf, Hirsch, Josephine, Hughes, Leuan, Janner, Marco, Kolesinska, Zofia, Lachlan, Katherine, Lauber-Biason, Anna, Malikova, Jana Krenek, l'Allemand, Dagmar, Lenhnerr-Taube, Nina, Lucas-Herald, Angela, Mammadova, Jamala, MсElreavey, Kenneth, Mericq, Veronica, Mönig, Isabel, Moreno, Francisca, Mührer, Julia, Niedziela, Marek, Nordenstrom, Anna, Orman, Burçe, Poyrazoglu, Sukran, Rial, Jose M., Rutter, Meilan M., Rodríguez, Amaia, Schafer-Kalkhoff, Tara, Sauter, Kay-Sara, Seneviratne, Sumudu Nimali, Sredkova-Ruskova, Maria, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Tomé, Mónica, Vela, Amaia, Wasniewska, Malgorzata, Zangen, David, Zelinska, Nataliya

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Androgen insensitivity syndrome von Hughes, Ieuan A, Prof, Davies, John D, PhD, Bunch, Trevor I, Pasterski, Vickie, PhD, Mastroyannopoulou, Kiki, BSc, MacDougall, Jane, MD

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Anogenital Distance from Birth to 2 Years: A Population Study von Thankamony, Ajay, Ong, Ken K., Dunger, David B., Acerini, Carlo L., Hughes, Ieuan A.

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UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development von Ahmed, S. Faisal, Achermann, John C., Arlt, Wiebke, Balen, Adam H., Conway, Gerry, Edwards, Zoe L., Elford, Sue, Hughes, Ieuan A., Izatt, Louise, Krone, Nils, Miles, Harriet L., O'Toole, Stuart, Perry, Les, Sanders, Caroline, Simmonds, Margaret, Wallace, A. Michael, Watt, Andrew, Willis, Debbie

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Premature adrenarche von Williams, Rachel M, Ward, Caleb E, Hughes, Ieuan A

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Consequences of the ESPE/LWPES guidelines for diagnosis and treatment of disorders of sex development von Hughes, Ieuan A, Nihoul-Fékété, C, Thomas, B, Cohen-Kettenis, P.T

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Maternally transmitted foetal H19 variants and associations with birth weight von Petry, Clive J., Seear, Rachel V., Wingate, Dianne L., Acerini, Carlo L., Ong, Ken K., Hughes, Ieuan A., Dunger, David B.

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Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche von Idkowiak, Jan, Malunowicz, Ewa M., Dhir, Vivek, Reisch, Nicole, Szarras-Czapnik, Maria, Holmes, Donna M., Shackleton, Cedric H. L., Davies, John D., Hughes, Ieuan A., Krone, Nils, Arlt, Wiebke

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Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor (AR) and androgen insensitivity syndrome (AIS) phenotype von Tadokoro, Rieko, Bunch, Trevor, Schwabe, John W. R., Hughes, Ieuan A., Murphy, Jane C.

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Genetic analysis of the INSL3 gene in patients with maldescent of the testis von LIM, Han N, MEYTS, Ewa Rajpert-De, SKAKKEBAEK, Niels E, HAWKINS, J. Ross, HUGHES, Leuan A

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Changes in Gene Expression during Wolffian Duct Development von Hannema, Sabine E., Print, Cristin G., Charnock-Jones, D. Stephen, Coleman, Nick, Hughes, Ieuan A.

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Concomitant Mutations in the P450 Oxidoreductase and Androgen Receptor Genes Presenting with 46,XY Disordered Sex Development and Androgenization at Adrenarche von Idkowiak, Jan, Malunowicz, Ewa M, Dhir, Vivek, Reisch, Nicole, Szarras-Czapnik, Maria, Holmes, Donna M, Shackleton, Cedric H. L, Davies, John D, Hughes, leuan A, Krone, Nils, Arlt, Wiebke

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Myelodysplastic syndrome with trisomy 8 in an adolescent with fanconi anaemia and selective igA deficiency von Standen, Graham R., Hughes, Leuan A., Geddes, A. Denise, Jones, Brian M., Wardrop, Charles A. J.

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Cortical gyrification in women and men and the (missing) link to prenatal androgens von Luders, Eileen, Gaser, Christian, Spencer, Debra, Thankamony, Ajay, Hughes, Ieuan, Simpson, Helen, Srirangalingam, Umasuthan, Gleeson, Helena, Hines, Melissa, Kurth, Florian

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Anogenital Distance in Healthy Infants: Method-, Age- and Sex-related Reference Ranges von Fischer, Margit Bistrup, Ljubicic, Marie Lindhardt, Hagen, Casper P, Thankamony, Ajay, Ong, Ken, Hughes, Ieuan, Jensen, Tina Kold, Main, Katharina M, Petersen, Jørgen Holm, Busch, Alexander S, Upners, Emmie N, Sathyanarayana, Sheela, Swan, Shanna H, Juul, Anders

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Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development von Kouri, Chrysanthi, Sommer, Grit, Martinez de Lapiscina, Idoia, Elzenaty, Rawda Naamneh, Tack, Lloyd, Cools, Martine, Ahmed, S. Faisal, Flück, Christa E, Abali, Saygin, Abali, Zehra Yavas, Akin, Leyla, Almaraz, Maricruz, Audí, Laura, Aydin, Murat, Balsamo, Antonio, Baronio, Federico, Bryce, Jillian, Busiah, Kanetee, Caimari, Maria, Camats-Tarruella, Núria, Campos-Martorell, Ariadna, Castaño, Luis, Casteràs, Anna, Çetinkaya, Semra, Chan, Yee-Ming, Claahsen-van der Grinten, Hedi L, Costa, Ines, Darendeliler, Fatma Feyza, Davies, Justin H, Esteva, Isabel, Fabbri-Scallet, Helena, Finlayson, Courtney A, Garcia, Emilio, Garcia Cuartero, Beatriz, German, Alina, Globa, Evgenia, Guerra-Junior, Gil, Guerrero, Julio, Guran, Tulay, Hannema, Sabine E, Hiort, Olaf, Hirsch, Josephine, Hughes, Leuan, Janner, Marco, Kolesinska, Zofia, Lachlan, Katherine, Lauber-Biason, Anna, Malikova, Jana Krenek, l'Allemand, Dagmar, Lenhnerr-Taube, Nina, Lucas-Herald, Angela, Mammadova, Jamala, MсElreavey, Kenneth, Mericq, Veronica, Mönig, Isabel, Moreno, Francisca, Mührer, Julia, Niedziela, Marek, Nordenstrom, Anna, Orman, Burçe, Poyrazoglu, Sukran, Rial, Jose M, Rutter, Meilan M, Rodríguez, Amaia, Schafer-Kalkhoff, Tara, Sauter, Kay-Sara, Seneviratne, Sumudu Nimali, Sredkova-Ruskova, Maria, Tadokoro-Cuccaro, Rieko, Thankamony, Ajay, Tomé, Mónica, Vela, Amaia, Wasniewska, Malgorzata, Zangen, David, Zelinska, Nataliya, next study group, SF1

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Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex developmentResearch in context von Chrysanthi Kouri, Grit Sommer, Idoia Martinez de Lapiscina, Rawda Naamneh Elzenaty, Lloyd J.W. Tack, Martine Cools, S. Faisal Ahmed, Christa E. Flück, Saygin Abali, Zehra Yavas Abali, Leyla Akin, Maricruz Almaraz, Laura Audí, Murat Aydin, Antonio Balsamo, Federico Baronio, Jillian Bryce, Kanetee Busiah, Maria Caimari, Núria Camats-Tarruella, Ariadna Campos-Martorell, Luis Castaño, Anna Casteràs, Semra Çetinkaya, Yee-Ming Chan, Hedi L. Claahsen-van der Grinten, Ines Costa, Fatma Feyza Darendeliler, Justin H. Davies, Isabel Esteva, Helena Fabbri-Scallet, Courtney A. Finlayson, Emilio Garcia, Beatriz Garcia Cuartero, Alina German, Evgenia Globa, Gil Guerra-Junior, Julio Guerrero, Tulay Guran, Sabine E. Hannema, Olaf Hiort, Josephine Hirsch, Leuan Hughes, Marco Janner, Zofia Kolesinska, Katherine Lachlan, Anna Lauber-Biason, Jana Krenek Malikova, Dagmar l'Allemand, Nina Lenhnerr-Taube, Angela Lucas-Herald, Jamala Mammadova, Kenneth MсElreavey, Veronica Mericq, Isabel Mönig, Francisca Moreno, Julia Mührer, Marek Niedziela, Anna Nordenstrom, Burçe Orman, Sukran Poyrazoglu, Jose M. Rial, Meilan M. Rutter, Amaia Rodríguez, Tara Schafer-Kalkhoff, Kay-Sara Sauter, Sumudu Nimali Seneviratne, Maria Sredkova-Ruskova, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Mónica Tomé, Amaia Vela, Malgorzata Wasniewska, David Zangen, Nataliya Zelinska

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Androgen receptor function links human sexual dimorphism to DNA methylation von Ammerpohl, Ole, Bens, Susanne, Appari, Mahesh, Werner, Ralf, Korn, Bernhard, Drop, Stenvert LS, Verheijen, Frans, van der Zwan, Yvonne, Bunch, Trevor, Hughes, Leuan, Cools, Martine, Riepe, Felix G, Hiort, Olaf, Siebert, Reiner, Holterhus, Paul-Martin

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Cortical gyrification in women and men and the (missing) link to prenatal androgens von Luders, Eileen, Gaser, Christian, Spencer, Debra, Thankamony, Ajay, Hughes, Leuan, Simpson, Helen, Srirangalingam, Umasuthan, Gleeson, Helena, Hines, Melissa, Kurth, Florian

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