المؤلفون: Lunke, Sebastian^{Aff1, Aff2, Aff3}, Bouffler, Sophie E., Patel, Chirag V., Sandaradura, Sarah A.^{Aff5, Aff6}, Wilson, Meredith^{Aff5, Aff6}, Pinner, Jason^{Aff7, Aff8}, Hunter, Matthew F.^{Aff9, Aff10}, Barnett, Christopher P.^{Aff11, Aff12, Aff13}, Wallis, Mathew^{Aff14, Aff15}, Kamien, Benjamin, Tan, Tiong Y.^{Aff1, Aff2}, Freckmann, Mary-Louise, Chong, Belinda, Phelan, Dean, Francis, David, Kassahn, Karin S.^{Aff12, Aff13}, Ha, Thuong^{Aff12, Aff18, Aff19}, Gao, Song, Arts, Peer^{Aff12, Aff13, Aff18, Aff19}, Jackson, Matilda R.^{Aff3, Aff12}, Scott, Hamish S.^{Aff3, Aff12, Aff13, Aff18, Aff19}, Eggers, Stefanie, Rowley, Simone, Boggs, Kirsten^{Aff3, Aff5, Aff7}, Rakonjac, Ana^{Aff3, Aff5, Aff7}, Brett, Gemma R.^{Aff1, Aff2}, de Silva, Michelle G.^{Aff1, Aff2, Aff20}, Springer, Amanda^{Aff9, Aff10}, Ward, Michelle, Stallard, Kirsty, Simons, Cas, Conway, Thomas, Halman, Andreas, Van Bergen, Nicole J.^{Aff2, Aff20}, Sikora, Tim, Semcesen, Liana N., Stroud, David A.^{Aff1, Aff2, Aff20}, Compton, Alison G.^{Aff1, Aff2, Aff20}, Thorburn, David R.^{Aff1, Aff2, Aff20}, Bell, Katrina M.^{Aff1, Aff20}, Sadedin, Simon^{Aff1, Aff2, Aff20}, North, Kathryn N.^{Aff2, Aff3, Aff20}, Christodoulou, John^{Aff2, Aff3, Aff6, Aff20}, Stark, Zornitza^{Aff1, Aff2, Aff3, IDs41591023024019_cor44}

المصدر: Nature Medicine. 29(7):1681-1691

المؤلفون: Mordaunt, Dylan A., Gonzalez, Francisco Santos, Lunke, Sebastian, Eggers, Stefanie, Sadedin, Simon, Chong, Belinda, Dalziel, Kim, Stark, Zornitza, Goranitis, Ilias

المصدر: In Genetics in Medicine April 2024 26(4)

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Helman, Guy, Taylor, Lauren E., Walkiewicz, Marzena, Le Moing, Maelle, Eggers, Stefanie, Yaplito-Lee, Joy, Fuller, Maria, Dabscheck, Gabriel, Rodriguez-Casero, Victoria, White, Susan M., Simons, Cas

المصدر: In European Journal of Medical Genetics August 2021 64(8)

المؤلفون: Ayers, Katie, Eggers, Stefanie, Rollo, Ben, Smith, Katherine, Davidson, Nadia, Siddall, Nicole, Zhao, Liang, Bowles, Josephine, Weiss, Karin, Zanni, Ginevra, Burglen, Lydie, Ben-Shachar, Shay, Rosensaft, Jenny, Raas-Rothschild, Annick, Jørgensen, Anne, Schittenhelm, Ralf, Huang, Cheng, Robevska, Gorjana, van den Bergen, Jocelyn, Casagranda, Franca, Cyza, Justyna, Pachernegg, Svenja, Wright, David, Bahlo, Melanie, Oshlack, Alicia, O'Brien, Terrence, Kwan, Patrick, Koopman, Peter, Hime, Gary, Girard, Nadine, Hoffmann, Chen, Shilon, Yuval, Zung, Amnon, Bertini, Enrico, Milh, Mathieu, Ben Rhouma, Bochra, Belguith, Neila, Bashamboo, Anu, Mcelreavey, Ken, Banne, Ehud, Weintrob, Naomi, Benzeev, Bruria, Sinclair, Andrew

المساهمون: Murdoch Children's Research Institute (MCRI), University of Melbourne, Victorian Clinical Genetics Services, Monash University [Melbourne], The Walter and Eliza Hall Institute of Medical Research (WEHI), University of Queensland [Brisbane], Technion - Israel Institute of Technology [Haifa], Bambino Gesù Children’s Hospital [Rome, Italy], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Génétique des Troubles du Neurodéveloppement = Developmental Brain Disorders Laboratory (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Tel Aviv Sourasky Medical Center [Te Aviv], The Hebrew University Hadassah Medical School, Chaim Sheba Medical Center, Tel Aviv University (TAU), Rigshospitalet [Copenhagen], Copenhagen University Hospital, Monash University [Clayton], Peter Mac Callum Cancer Centre, Service de pédiatrie et neurologie pédiatrique, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Kaplan Medical Center [Rehovot, Israel], Université de Gabès, Université de Sfax - University of Sfax, Hôpital Charles Nicolle [Tunis], Génétique du Développement humain - Human developmental genetics, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Wolfson Medical Center, This study was supported by a National Health and Medical Research Council (NHMRC) programme grant (1074258) awarded to AS, NHMRC project grant (1156942) (K.A.), a Medical Research Future Fund Stem Cells Mission grant (MRF1201781) (K.A., B.N.R. and P.Kw), an Australian Research Council Future Fellowship (FT100100764) to M.B., A NHMRC Investigator Grant (1174040) to D.W., Agence Nationale de la Recherche funding ANR-10-LABX-73 REVIVE, ANR-17-CE14-0038-01 and ANR 20 CE14 0007 to K.M., ANR-19-CE140022 and ANR-19-CE14-0012 to A.B., G.Z. and E.B. are members of the European Reference Network for Rare Neurological Diseases - Project ID No 739510., ANR-10-LABX-0073,REVIVE,Stem Cells in Regenerative Biology and Medicine(2010), ANR-20-CE14-0007,Goldilocks,Analyse intégrée du rôle du facteur de transcription SF-1 / NR5A1 et de ses gènes cibles dépendants du dosage dans la fonction gonadique et les troubles du développement sexuel (DSD)(2020), ANR-19-CE14-0022,SexDiff,Régulation de la détermination du sexe et de la différenciation ovarienne : implications dans les troubles du développement sexuel(2019), ANR-19-CE14-0012,RNA-SEX,Fonction de l'ARN hélicase dans la détermination du sexe chez les vertébrés et les troubles du développement du sexe chez l'homme (DSD)(2019)

المصدر: Nature Communications
Nature Communications, 2023, 14 (1), pp.3403. ⟨10.1038/s41467-023-39040-0⟩

مصطلحات موضوعية: MESH: Humans, MESH: RNA-Binding Proteins, MESH: Testis, [SDV]Life Sciences [q-bio], MESH: Gonadal Dysgenesis, MESH: Antigens, Neoplasm, MESH: Induced Pluripotent Stem Cells, MESH: Male, MESH: Intellectual Disability

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ce46bdb7b636d4657872acece5ceafb8
https://hal.science/hal-04150348

المؤلفون: Akesson, Lauren S.^{Aff1, Aff2, Aff3}, Eggers, Stefanie, Love, Clare J., Chong, Belinda, Krzesinski, Emma I.^{Aff3, Aff4}, Brown, Natasha J.^{Aff1, Aff2}, Tan, Tiong Y.^{Aff1, Aff2}, Richmond, Christopher M., Thorburn, David R.^{Aff1, Aff2, Aff5}, Christodoulou, John^{Aff1, Aff2, Aff5, Aff6}, Hunter, Matthew F.^{Aff3, Aff4}, Lunke, Sebastian^{Aff1, Aff6, Aff7}, Stark, Zornitza^{Aff1, Aff2, Aff6}

المصدر: European Journal of Human Genetics. 27(12):1821-1826

المؤلفون: Boelsen, Laura K.^{Aff1, Aff2}, Dunne, Eileen M.^{Aff1, Aff2}, Mika, Moana^Aff3, Eggers, Stefanie^Aff4, Nguyen, Cattram D.^{Aff1, Aff2}, Ratu, F. Tupou^Aff5, Russell, Fiona M.^{Aff1, Aff2, Aff6}, Mulholland, E. Kim^{Aff1, Aff2, Aff7}, Hilty, Markus^Aff3, Satzke, Catherine^{Aff1, Aff2, Aff8}

المصدر: Microbiome. 7(1)

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Croft, Brittany, Bird, Anthony D., Ono, Makoto, Eggers, Stefanie, Bagheri‐Fam, Stefan, Ryan, Janelle M., Reyes, Alejandra P., van den Bergen, Jocelyn, Baxendale, Anne, Thompson, Elizabeth M., Kueh, Andrew J., Stanton, Peter, Thomas, Tim, Sinclair, Andrew H., Harley, Vincent R.

المصدر: Clinical Genetics; Mar2023, Vol. 103 Issue 3, p277-287, 11p

مصطلحات موضوعية: SEX determination, GENETIC sex determination, GONADS, SEX reversal, FIBROBLAST growth factors, SERTOLI cells, BLOOD coagulation factor IX

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.