Generation of heterozygous (MCRIi031-A-1) and homozygous (MCRIi031-A-2) SOX9 knockout human iPSC lines von Pachernegg, Svenja, Robevska, Gorjana, G. A. Ferreira, Lucas, van den Bergen, Jocelyn A., Vlahos, Katerina, Howden, Sara E., Sinclair, Andrew H., Ayers, Katie L.

Volltext

Signaling through the TGF beta-activin receptors ALK4/5/7 regulates testis formation and male germ cell development von Miles, Denise C, Wakeling, Stephanie I, Stringer, Jessica M, van den Bergen, Jocelyn A, Wilhelm, Dagmar, Sinclair, Andrew H, Western, Patrick S

Volltext

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

Volltext

NR5A1 gene variants repress the ovarian‐specific WNT signaling pathway in 46,XX disorders of sex development patients von Knarston, Ingrid M., Robevska, Gorjana, den Bergen, Jocelyn A, Eggers, Stefanie, Croft, Brittany, Yates, Jason, Hersmus, Remko, Looijenga, Leendert H. J., Cameron, Fergus J., Monhike, Klaus, Ayers, Katie L., Sinclair, Andrew H.

Volltext

miR-322 stabilizes MEK1 expression to inhibit RAF/MEK/ERK pathway activation in cartilage von Bluhm, Björn, Ehlen, Harald W A, Holzer, Tatjana, Georgieva, Veronika S, Heilig, Juliane, Pitzler, Lena, Etich, Julia, Bortecen, Toman, Frie, Christian, Probst, Kristina, Niehoff, Anja, Belluoccio, Daniele, Van den Bergen, Jocelyn, Brachvogel, Bent

Volltext

Dynamic Regulation of Mitotic Arrest in Fetal Male Germ Cells von Western, Patrick S., Miles, Denise C., van den Bergen, Jocelyn A., Burton, Matt, Sinclair, Andrew H.

Volltext

Mitotic arrest in teratoma susceptible fetal male germ cells von Western, Patrick S, Ralli, Rachael A, Wakeling, Stephanie I, Lo, Camden, van den Bergen, Jocelyn A, Miles, Denise C, Sinclair, Andrew H

Volltext

Copy number variation associated with meiotic arrest in idiopathic male infertility von Eggers, Stefanie, Ph.D, DeBoer, Kathleen D., Ph.D, van den Bergen, Jocelyn, B.Sc, Gordon, Lavinia, M.Sc, White, Stefan J., Ph.D, Jamsai, Duangporn, Ph.D, McLachlan, Robert I., Ph.D, Sinclair, Andrew H., Ph.D, O'Bryan, Moira K., Ph.D

Volltext

Generation of a homozygous (MCRIi031-A-3) WT1 knockout human iPSC line von Pachernegg, Svenja, Robevska, Gorjana, Ferreira, Lucas G.A., van den Bergen, Jocelyn A., Vlahos, Katerina, Howden, Sara E., Sinclair, Andrew H., Ayers, Katie L.

Volltext

Dominant TP63 missense variants lead to constitutive activation and premature ovarian insufficiency von Tucker, Elena J., Gutfreund, Niklas, Belaud‐Rotureau, Marc‐Antoine, Gilot, David, Brun, Tiffany, Kline, Brianna L., Bell, Katrina M., Domin‐Bernhard, Mathilde, Théard, Camille, Touraine, Philippe, Robevska, Gorjana, Bergen, Jocelyn, Ayers, Katie L., Sinclair, Andrew H., Dötsch, Volker, Jaillard, Sylvie

Volltext

Generation of heterozygous (MCRIi030-A-1) and homozygous (MCRIi030-A-2) NR2F2/COUP-TFII knockout human iPSC lines von Ferreira, Lucas G.A., Cabral-da-Silva, Mauricio C., Pachernegg, Svenja, van den Bergen, Jocelyn A., Robevska, Gorjana, Vlahos, Katerina, Howden, Sara E., Ng, Elizabeth S., Dias-da-Silva, Magnus R., Sinclair, Andrew H., Ayers, Katie L.

Volltext

Rhox Homeobox Gene Family Shows Sexually Dimorphic and Dynamic Expression During Mouse Embryonic Gonad Development von Daggag, Hinda, Svingen, Terje, Western, Patrick S, Bergen, Jocelyn A. van den, McClive, Peter J, Harley, Vincent R, Koopman, Peter, Sinclair, Andrew H

Volltext

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9 von Croft, Brittany, Ohnesorg, Thomas, Hewitt, Jacqueline, Bowles, Josephine, Quinn, Alexander, Tan, Jacqueline, Corbin, Vincent, Pelosi, Emanuele, van den Bergen, Jocelyn, Sreenivasan, Rajini, Knarston, Ingrid, Robevska, Gorjana, Vu, Dung Chi, Hutson, John, Harley, Vincent, Ayers, Katie, Koopman, Peter, Sinclair, Andrew

Volltext

Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development von Bergen, Jocelyn A., Robevska, Gorjana, Eggers, Stefanie, Riedl, Stefan, Grover, Sonia R., Bergman, Philip B., Kimber, Chris, Jiwane, Ashish, Khan, Sophy, Krausz, Csilla, Raza, Jamal, Atta, Irum, Davis, Susan R., Ono, Makato, Harley, Vincent, Faradz, Sultana M. H., Sinclair, Andrew H., Ayers, Katie L.

Volltext

Regulation of the female mouse germ cell cycle during entry into meiosis von Miles, Denise C., van den Bergen, Jocelyn A., Sinclair, Andrew H., Western, Patrick

Volltext

Variants in congenital hypogonadotrophic hypogonadism genes identified in an Indonesian cohort of 46,XY under-virilised boys von Ayers, Katie L, Bouty, Aurore, Robevska, Gorjana, van den Bergen, Jocelyn A, Juniarto, Achmad Zulfa, Listyasari, Nurin Aisyiyah, Sinclair, Andrew H, Faradz, Sultana M H

Volltext

Functional characterisation of human recessive DIS3 variants in premature ovarian insufficiency von Kline, Brianna L, Siddall, Nicole A, Wijaya, Fernando, Stuart, Catherine J, Orlando, Luisa, Bakhshalizadeh, Shabnam, Afkhami, Fateme, Bell, Katrina M, Jaillard, Sylvie, Robevska, Gorjana, Bergen, Jocelyn A, Shahbazi, Shirin, Hoof, Ambro, Ayers, Katie L, Hime, Gary R, Sinclair, Andrew H, Tucker, Elena J

Volltext

Normalizing Gene Expression Levels in Mouse Fetal Germ Cells von van den Bergen, Jocelyn A, Miles, Denise C, Sinclair, Andrew H, Western, Patrick S

Volltext

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development von Robevska, Gorjana, den Bergen, Jocelyn A., Ohnesorg, Thomas, Eggers, Stefanie, Hanna, Chloe, Hersmus, Remko, Thompson, Elizabeth M., Baxendale, Anne, Verge, Charles F., Lafferty, Antony R., Marzuki, Nanis S., Santosa, Ardy, Listyasari, Nurin A., Riedl, Stefan, Warne, Garry, Looijenga, Leendert, Faradz, Sultana, Ayers, Katie L., Sinclair, Andrew H.

Volltext

Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causes von 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

Volltext