檢索結果 - Gorjana Robevska

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  1. 1
    Identification of variants in pleiotropic genes causing “isolated” premature ovarian insufficiency: implications for medical practice

    Identification of variants in pleiotropic genes causing “isolated” premature ovarian insufficiency: implications for medical practice 由 Elena J. Tucker, Sonia Grover, Gorjana Robevska, Jocelyn van den Bergen, Chloe Hanna, Andrew Sinclair

    出版 2018
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  2. 2
    Generation of heterozygous (MCRIi031-A-1) and homozygous (MCRIi031-A-2) SOX9 knockout human iPSC lines

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

    出版 2024
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  3. 3
    Generation of a homozygous (MCRIi031-A-3) WT1 knockout human iPSC line

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

    出版 2024
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  4. 4
    TP63‐truncating variants cause isolated premature ovarian insufficiency

    TP63‐truncating variants cause isolated premature ovarian insufficiency 由 Elena J. Tucker, Sylvie Jaillard, Sonia Grover, Jocelyn den Bergen, Gorjana Robevska, Katrina M. Bell, Simon Sadedin, Chloe Hanna, Jérôme Dulon, Philippe Touraine, Andrew Sinclair

    出版 2019
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  5. 5
    COUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitors

    COUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitors 由 Lucas G. A. Ferreira, Marina M. L. Kizys, Gabriel A. C. Gama, Svenja Pachernegg, Gorjana Robevska, Andrew Sinclair, Katie L. Ayers, Magnus R. Dias‐da‐Silva

    出版 2023
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  6. 6
    COUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitors

    COUP-TFII regulates early bipotential gonad signaling and commitment to ovarian progenitors 由 Lucas G. A. Ferreira, Marina M. L. Kizys, Gabriel A. C. Gama, Svenja Pachernegg, Gorjana Robevska, Andrew Sinclair, Katie L. Ayers, Magnus R. Dias‐da‐Silva

    出版 2024
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  7. 7
    Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches

    Identification of Candidate Genes for Mayer-Rokitansky-Küster-Hauser Syndrome Using Genomic Approaches 由 Brendan Backhouse, Chloe Hanna, Gorjana Robevska, Jocelyn van den Bergen, Emanuele Pelosi, Cas Simons, Peter Koopman, Achmad Zulfa Juniarto, Sonia Grover, Sultana MH Faradz, Andrew Sinclair, Katie L. Ayers, Tiong Yang Tan

    出版 2018
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  8. 8
    Generation of heterozygous (MCRIi030-A-1) and homozygous (MCRIi030-A-2) NR2F2/COUP-TFII knockout human iPSC lines

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

    出版 2024
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  9. 9
    Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

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

    出版 2018
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  10. 10
    Functional characterization of novel <i>NR5A1</i> variants reveals multiple complex roles in disorders of sex development

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

    出版 2017
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  11. 11
    STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

    STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia 由 Sylvie Jaillard, Kenneth McElreavy, Gorjana Robevska, Linda Akloul, Farah Ghieh, Rajini Sreenivasan, Marion Beaumont, Anu Bashamboo, Joëlle Bignon-Topalovic, Anne-Sophie Neyroud, Katrina M. Bell, Elisabeth Veron-Gastard, Erika Launay, Jocelyn van den Bergen, Bénédicte Nouyou, François Vialard, Marc‐Antoine Belaud‐Rotureau, Katie L. Ayers, Sylvie Odent, Célia Ravel, Elena J. Tucker, Andrew Sinclair

    出版 2020
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  12. 12
    Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency

    Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency 由 Shabnam Bakhshalizadeh, Daniella H. Hock, Nicole A. Siddall, Brianna L. Kline, Rajini Sreenivasan, Katrina M. Bell, Franca Casagranda, Sadishkumar Kamalanathan, Jayaprakash Sahoo, Niya Narayanan, Dukhabandhu Naik, Varun Suryadevara, Alison G. Compton, Sumudu S. C. Amarasekera, Ridam Kapoor, Sylvie Jaillard, Andrea Simpson, Gorjana Robevska, Jocelyn van den Bergen, Svenja Pachernegg, Katie L. Ayers, David R. Thorburn, David A. Stroud, Gary R. Hime, Andrew Sinclair, Elena J. Tucker

    出版 2023
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  13. 13
    New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing

    New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing 由 Sylvie Jaillard, Katrina M. Bell, Linda Akloul, Kelly L. Walton, Kenneth McElreavy, William A. Stocker, Marion Beaumont, C.M.H. Harrisson, Tiina Jääskeläinen, Jorma J. Palvimo, Gorjana Robevska, Erika Launay, Anne-Pascale Satié, Nurin Aisyiyah Listyasari, Claude Bendavid, Rajini Sreenivasan, Solène Duros, Jocelyn van den Bergen, Cathérine Henry, Mathilde Domin‐Bernhard, Laurence Cornevin, Nathalie Dejucq‐Rainsford, Marc‐Antoine Belaud‐Rotureau, Sylvie Odent, Katie L. Ayers, Célia Ravel, Elena J. Tucker, Andrew Sinclair

    出版 2020
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  14. 14
    Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

    Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort 由 Stefanie Eggers, Simon Sadedin, Jocelyn A. van den Bergen, Gorjana Robevska, Thomas Ohnesorg, Jacqueline Hewitt, Luke S. Lambeth, Aurore Bouty, Ingrid Knarston, Tiong Yang Tan, Fergus Cameron, George A. Werther, John Hutson, Michele A. O’Connell, Sonia Grover, Yves Héloury, Margaret Zacharin, Philip Bergman, Chris Kimber, Justin Brown, Nathalie Webb, Matthew F. Hunter, Shubha Srinivasan, Angela Titmuss, Charles F. Verge, David Mowat, Grahame Smith, Janine Smith, Lisa Ewans, Carolyn Shalhoub, Patricia Crock, Chris Cowell, Gary M. Leong, Makato Ono, Antony Lafferty, Tony Huynh, Uma Visser, Catherine S. Choong, F. Ellis McKenzie, Nicholas Pachter, Elizabeth M. Thompson, Jennifer Couper, Anne Baxendale, Jozef Gécz, Benjamin J. Wheeler, Craig Jefferies, Karen E. MacKenzie, Paul L. Hofman, Philippa Carter, Richard King, Csilla Krausz, Conny M.A. van Ravenswaaij‐Arts, Leendert H. J. Looijenga, S L S Drop, Stefan Riedl, Martine Cools, Angelika J. Dawson, Achmad Zulfa Juniarto, Vaman Khadilkar, Anuradha Khadilkar, Vijayalakshmi Bhatia, Vũ Chí Dũng, Irum Atta, Jamal Raza, Nguyen Thi Diem, Tran Kiem Hao, Vincent R. Harley, Peter Koopman, Garry L. Warne, Sultana MH Faradz, Alicia Oshlack, Katie L. Ayers, Andrew Sinclair

    出版 2016
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