檢索結果 - Anne Goriely

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  1. 1
    The impact of paternal age on new mutations and disease in the next generation

    The impact of paternal age on new mutations and disease in the next generation 由 K Wood, Anne Goriely

    出版 2022
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  2. 2
    Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease

    Paternal Age Effect Mutations and Selfish Spermatogonial Selection: Causes and Consequences for Human Disease 由 Anne Goriely, Andrew O.M. Wilkie

    出版 2012
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  3. 3
    Cellular evidence for selfish spermatogonial selection in aged human testes

    Cellular evidence for selfish spermatogonial selection in aged human testes 由 Geoffrey J. Maher, Anne Goriely, Andrew O.M. Wilkie

    出版 2013
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  4. 4
    Lune/eye gone, a Pax-like protein, uses a partial paired domain and a homeodomain for DNA recognition

    Lune/eye gone, a Pax-like protein, uses a partial paired domain and a homeodomain for DNA recognition 由 Susie Jun, R. Wallen, Anne Goriely, Bill Kalionis, Claude Desplan

    出版 1998
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  5. 5
    “Selfish Spermatogonial Selection”: A Novel Mechanism for the Association Between Advanced Paternal Age and Neurodevelopmental Disorders

    “Selfish Spermatogonial Selection”: A Novel Mechanism for the Association Between Advanced Paternal Age and Neurodevelopmental Disorders 由 Anne Goriely, John J. McGrath, Christina M. Hultman, Andrew O.M. Wilkie, Dolores Malaspina

    出版 2013
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  6. 6
    Opposing FGF and Retinoid Pathways Control Ventral Neural Pattern, Neuronal Differentiation, and Segmentation during Body Axis Extension

    Opposing FGF and Retinoid Pathways Control Ventral Neural Pattern, Neuronal Differentiation, and Segmentation during Body Axis Extension 由 Ruth Díez del Corral, Isabel Olivera-Martínez, Anne Goriely, Emily Gale, Malcolm Maden, Kate G. Storey

    出版 2003
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  7. 7
    Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes

    Visualizing the origins of selfish de novo mutations in individual seminiferous tubules of human testes 由 Geoffrey J. Maher, Simon J. McGowan, Eleni Giannoulatou, Clare Verrill, Anne Goriely, Andrew O.M. Wilkie

    出版 2016
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  8. 8
    Advanced paternal age effects in neurodevelopmental disorders—review of potential underlying mechanisms

    Advanced paternal age effects in neurodevelopmental disorders—review of potential underlying mechanisms 由 Magdalena Janecka, Jonathan Mill, M. Albert Basson, Anne Goriely, Harry Spiers, Abraham Reichenberg, Leonard C. Schalkwyk, Cathy Fernandes

    出版 2017
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  9. 9
    OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogonia

    OCT2, SSX and SAGE1 reveal the phenotypic heterogeneity of spermatocytic seminoma reflecting distinct subpopulations of spermatogonia 由 Jasmine Lim, Anne Goriely, Gareth Dh Turner, Katherine Ewen, Grete Krag Jacobsen, Niels Græm, Andrew O.M. Wilkie, Ewa Rajpert‐De Meyts

    出版 2011
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  10. 10
    Gain-of-function amino acid substitutions drive positive selection of <i>FGFR2</i> mutations in human spermatogonia

    Gain-of-function amino acid substitutions drive positive selection of <i>FGFR2</i> mutations in human spermatogonia 由 Anne Goriely, Gil McVean, Ans M. M. van Pelt, A O'Rourke, Steven A. Wall, Dirk G. de Rooij, Andrew O.M. Wilkie

    出版 2005
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  11. 11
    Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development

    Chromatin and Single-Cell RNA-Seq Profiling Reveal Dynamic Signaling and Metabolic Transitions during Human Spermatogonial Stem Cell Development 由 Jingtao Guo, Edward J. Grow, Chongil Yi, Hana Mlčochová, Geoffrey J. Maher, Cecilia Lindskog, Patrick J. Murphy, Candice L. Wike, Douglas T. Carrell, Anne Goriely, James M. Hotaling, Bradley R. Cairns

    出版 2017
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  12. 12
    Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes

    Selfish mutations dysregulating RAS-MAPK signaling are pervasive in aged human testes 由 Geoffrey J. Maher, H. Ralph, Zhihao Ding, Nils Koelling, Hana Mlčochová, Eleni Giannoulatou, Pawan Dhami, Dirk S. Paul, Stefan H. Stricker, Stephan Beck, Gil McVean, Andrew O.M. Wilkie, Anne Goriely

    出版 2018
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  13. 13
    Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors

    Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors 由 Anne Goriely, Ruth M. S. Hansen, Indira B. Taylor, Inge A. Olesen, Grete Krag Jacobsen, Simon J. McGowan, Susanne P. Pfeifer, Gil McVean, Ewa Rajpert-De Meyts, Andrew O.M. Wilkie

    出版 2009
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  14. 14
    Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline

    Whole-genome sequencing of spermatocytic tumors provides insights into the mutational processes operating in the male germline 由 Eleni Giannoulatou, Geoffrey J. Maher, Zhihao Ding, Ad Gillis, Lambert C. J. Dorssers, Alexander Hoischen, Ewa Rajpert‐De Meyts, Gil McVean, Andrew O.M. Wilkie, Leendert H. J. Looijenga, Anne Goriely

    出版 2017
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  15. 15
    Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition

    Adventitious changes in long-range gene expression caused by polymorphic structural variation and promoter competition 由 Karen M. Lower, Jim R. Hughes, Marco De Gobbi, Shirley Henderson, Vip Viprakasit, Chris Fisher, Anne Goriely, Helena Ayyub, Jackie Sloane‐Stanley, Douglas Vernimmen, Cordelia Langford, David Garrick, Richard J. Gibbons, Douglas R. Higgs

    出版 2009
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  16. 16
    The adult human testis transcriptional cell atlas

    The adult human testis transcriptional cell atlas 由 Jingtao Guo, Edward J. Grow, Hana Mlčochová, Geoffrey J. Maher, Cecilia Lindskog, Xichen Nie, Yixuan Guo, Yodai Takei, Jina Yun, Long Cai, Robin D. Kim, Douglas T. Carrell, Anne Goriely, James M. Hotaling, Bradley R. Cairns

    出版 2018
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  17. 17
    The Dynamic Transcriptional Cell Atlas of Testis Development during Human Puberty

    The Dynamic Transcriptional Cell Atlas of Testis Development during Human Puberty 由 Jingtao Guo, Xichen Nie, Maria Giebler, Hana Mlčochová, Yueqi Wang, Edward J. Grow, Robin D. Kim, Melissa D. Tharmalingam, Gabriele Matilionyte, Cecilia Lindskog, Douglas T. Carrell, Rod T. Mitchell, Anne Goriely, James M. Hotaling, Bradley R. Cairns

    出版 2020
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  18. 18
    Cisplatin and carboplatin result in similar gonadotoxicity in immature human testis with implications for fertility preservation in childhood cancer

    Cisplatin and carboplatin result in similar gonadotoxicity in immature human testis with implications for fertility preservation in childhood cancer 由 Melissa D. Tharmalingam, Gabriele Matilionyte, William H. Wallace, Jan‐Bernd Stukenborg, Kirsi Jahnukainen, Elizabeth Oliver, Anne Goriely, Sheila Lane, Jingtao Guo, Bradley R. Cairns, Anne Jørgensen, Caroline M Allen, Federica Lopes, Richard A. Anderson, Norah Spears, Rod T. Mitchell

    出版 2020
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  19. 19
    The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males

    The Origin of EFNB1 Mutations in Craniofrontonasal Syndrome: Frequent Somatic Mosaicism and Explanation of the Paucity of Carrier Males 由 Stephen R.F. Twigg, Kazuya Matsumoto, Alexa Kidd, Anne Goriely, Indira B. Taylor, Richard B. Fisher, A. Jeannette M. Hoogeboom, Irene M.J. Mathijssen, Maria Teresa Cruz Lourenço, Jenny E.V. Morton, Elizabeth Sweeney, Louise C. Wilson, Han G. Brunner, John B. Mulliken, Steven A. Wall, Andrew O.M. Wilkie

    出版 2006
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  20. 20
    Contributions of intrinsic mutation rate and selfish selection to levels of de novo <i>HRAS</i> mutations in the paternal germline

    Contributions of intrinsic mutation rate and selfish selection to levels of de novo <i>HRAS</i> mutations in the paternal germline 由 Eleni Giannoulatou, Gil McVean, Indira B. Taylor, Simon J. McGowan, Geoffrey J. Maher, Zamin Iqbal, Susanne P. Pfeifer, Isaac Turner, Emma M.M. Burkitt Wright, Jennifer Shorto, Aysha Itani, Karen Turner, Lorna Gregory, David Buck, Ewa Rajpert‐De Meyts, Leendert H. J. Looijenga, Bronwyn Kerr, Andrew O.M. Wilkie, Anne Goriely

    出版 2013
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