检索结果 - Francesca Pasutto

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  1. 1
    Genotype-Correlated Expression of Lysyl Oxidase-Like 1 in Ocular Tissues of Patients with Pseudoexfoliation Syndrome/Glaucoma and Normal Patients

    Genotype-Correlated Expression of Lysyl Oxidase-Like 1 in Ocular Tissues of Patients with Pseudoexfoliation Syndrome/Glaucoma and Normal Patients 由 Ursula Schlötzer‐Schrehardt, Francesca Pasutto, Pascal Sommer, Ian K. Hornstra, Friedrich E. Kruse, Gottfried O.H. Naumann, André Reis, Matthias Zenkel

    出版 2008
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  2. 2
    Profiling of<i>WDR36</i>Missense Variants in German Patients with Glaucoma

    Profiling of<i>WDR36</i>Missense Variants in German Patients with Glaucoma 由 Francesca Pasutto, Christian Y. Mardin, Karin Michels-Rautenstrauss, Bernhard H. F. Weber, Heinrich Sticht, Gabriela Chavarría‐Soley, Bernd Rautenstrauß, Friedrich E. Kruse, André Reis

    出版 2008
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  3. 3
    Association of<i>LOXL1</i>Common Sequence Variants in German and Italian Patients with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma

    Association of<i>LOXL1</i>Common Sequence Variants in German and Italian Patients with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma 由 Francesca Pasutto, Mandy Krumbiegel, Christian Y. Mardin, Daniela Paoli, Robert La ̈mmer, Bernhard H. F. Weber, Friedrich E. Kruse, Ursula Schlo ̈tzer-Schrehardt, André Reis

    出版 2008
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  4. 4
    Heterozygous Loss-of-Function Variants in<i>CYP1B1</i>Predispose to Primary Open-Angle Glaucoma

    Heterozygous Loss-of-Function Variants in<i>CYP1B1</i>Predispose to Primary Open-Angle Glaucoma 由 Francesca Pasutto, Gabriela Chavarría‐Soley, Christian Y. Mardin, Karin Michels-Rautenstrauss, Magnus Ingelman‐Sundberg, Lorena T. Fernández‐Martínez, Bernhard H. F. Weber, Bernd Rautenstrauß, André Reis

    出版 2010
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  5. 5
    Exploring Functional Candidate Genes for Genetic Association in German Patients with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma

    Exploring Functional Candidate Genes for Genetic Association in German Patients with Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma 由 Mandy Krumbiegel, Francesca Pasutto, Christian Y. Mardin, Nicole Weisschuh, Daniela Paoli, E. Gramer, Matthias Zenkel, Bernhard H. F. Weber, Friedrich E. Kruse, Ursula Schlo ̈tzer-Schrehardt, André Reis

    出版 2009
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  6. 6
    Vestibular defects in head-tilt mice result from mutations in<i>Nox3</i>, encoding an NADPH oxidase

    Vestibular defects in head-tilt mice result from mutations in<i>Nox3</i>, encoding an NADPH oxidase 由 Rainer Paffenholz, Rebecca A. Bergstrom, Francesca Pasutto, Philipp Wabnitz, Robert J. Munroe, Wolfgang Jagla, U. Heinzmann, Andreas Marquardt, Armin Bareiss, Jürgen Laufs, Andreas Russ, Gabriele Stumm, John C. Schimenti, David E. Bergstrom

    出版 2004
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  7. 7
    Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome

    Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome 由 Mandy Krumbiegel, Francesca Pasutto, Ursula Schlötzer‐Schrehardt, Steffen Uebe, Matthias Zenkel, Christian Y. Mardin, Nicole Weisschuh, Daniela Paoli, E. Gramer, Christian Becker, Arif B. Ekici, Bernhard H. F. Weber, Peter Nürnberg, Friedrich E. Kruse, André Reis

    出版 2010
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  8. 8
    Variants in ASB10 are associated with open-angle glaucoma

    Variants in ASB10 are associated with open-angle glaucoma 由 Francesca Pasutto, Kate E. Keller, Nicole Weisschuh, Heinrich Sticht, J. R. Samples, Yuting Yang, Matthias Zenkel, Ursula Schlötzer‐Schrehardt, Christian Y. Mardin, Paolo Frezzotti, Beth Edmunds, P. L. Kramer, E. Gramer, André Reis, Ted S. Acott, Mary K. Wirtz

    出版 2011
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  9. 9
    Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel

    Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel 由 Kathryn P. Burdon, Patricia Graham, Johanna Hadler, John D. Hulleman, Francesca Pasutto, Erin A. Boese, Jamie E. Craig, John H. Fingert, Alex W. Hewitt, Owen M. Siggs, Kristina N. Whisenhunt, Terri L. Young, David A. Mackey, Andrew Dubowsky, Emmanuelle Souzeau

    出版 2022
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  10. 10
    Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma

    Heterozygous NTF4 Mutations Impairing Neurotrophin-4 Signaling in Patients with Primary Open-Angle Glaucoma 由 Francesca Pasutto, Tomoya Matsumoto, Christian Y. Mardin, Heinrich Sticht, Johann Helmut Brandstätter, Karin Michels-Rautenstrauss, Nicole Weisschuh, E. Gramer, Wishal D. Ramdas, Leonieke M. E. van Koolwijk, Caroline C. W. Klaver, Johannes R. Vingerling, Bernhard H. F. Weber, Friedrich E. Kruse, Bernd Rautenstrauß, Yves‐Alain Barde, André Reis

    出版 2009
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  11. 11
    Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation

    Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, an... 由 Francesca Pasutto, Heinrich Sticht, G. Hammersen, Gabriele Gillessen‐Kaesbach, David Fitzpatrick, Gudrun Nürnberg, Frank Brasch, Heidemarie Schirmer-Zimmermann, John Tolmie, David Chitayat, Gunnar Houge, Lorena T. Fernández‐Martínez, Sarah Keating, Geert Mortier, Raoul C. M. Hennekam, A von der Wense, Anne Slavotinek, Peter Meinecke, Pierre Bitoun, Christian Becker, Peter Nürnberg, André Reis, Anita Rauch

    出版 2007
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  12. 12
    Prevalence of<i>FOXC1</i>Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma

    Prevalence of<i>FOXC1</i>Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma 由 Owen M. Siggs, Emmanuelle Souzeau, Francesca Pasutto, Andrew Dubowsky, James E. Smith, Deepa Taranath, John Pater, Julian L Rait, Andrew Narita, Lucia Mauri, Alessandra Longo, André Reis, Angela Chappell, Lisa S. Kearns, Sandra E. Staffieri, James E. Elder, Jonathan B. Ruddle, Alex W. Hewitt, Kathryn P. Burdon, David A. Mackey, Jamie E. Craig

    出版 2019
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  13. 13
    Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1

    Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1 由 Francesca Pasutto, Matthias Zenkel, Ursula Hoja, Daniel Berner, Steffen Uebe, Fulvia Ferrazzi, Johannes Schödel, Panah Liravi, Mineo Ozaki, Daniela Paoli, Paolo Frezzotti, Takanori Mizoguchi, S Nakano, Toshiaki Kubota, Shin-ichi Manabe, Erika Salvi, Paolo Manunta, Maria Grazia Cusi, Christian Gieger, Heinz‐Erich Wichmann, Tin Aung, Chiea Chuen Khor, Friedrich E. Kruse, André Reis, Ursula Schlötzer‐Schrehardt

    出版 2017
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  14. 14
    Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models

    Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data, functional studies of the SH3 recognition motif and correlation between wild-type MED25... 由 Alejandro Leal, Kathrin Huehne, Finn Bauer, Heinrich Sticht, Philipp Berger, Ueli Suter, Bernal Morera-Brenes, Gerardo Del Valle, James R. Lupski, Arif B. Ekici, Francesca Pasutto, Sabine Endele, Ramiro Barrantes, Corinna Berghoff, Martin Berghoff, B. Neundörfer, Dieter Heuß, Thomas Dorn, Peter Young, Lisa Santolin, Thomas Uhlmann, Michael Meisterernst, Michael W. Sereda, Gerd Meyer zu Hörste, Klaus‐Armin Nave, André Reis, Bernd Rautenstrauß

    出版 2009
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  15. 15
    Angiopoietin-1 is required for Schlemm’s canal development in mice and humans

    Angiopoietin-1 is required for Schlemm’s canal development in mice and humans 由 Benjamin R. Thomson, Tomokazu Souma, Stuart W. Tompson, Tuncer Onay, Krishnakumar Kizhatil, Owen M. Siggs, Liang Feng, Kristina N. Whisenhunt, Tammy L. Yanovitch, Luba Kalaydjieva, Dimitar N. Azmanov, Simone Finzi, Christine E. Tanna, Alex W. Hewitt, David A. Mackey, Yasmin S. Bradfield, Emmanuelle Souzeau, Shari Javadiyan, Janey L. Wiggs, Francesca Pasutto, Xiaorong Liu, Simon W. M. John, Jamie E. Craig, Jing Jin, Terri L. Young, Susan E. Quaggin

    出版 2017
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  16. 16
    Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci

    Large-scale multitrait genome-wide association analyses identify hundreds of glaucoma risk loci 由 Xikun Han, Puya Gharahkhani, Andrew R. Hamel, Jue‐Sheng Ong, Miguel E. Rentería, Puja A. Mehta, Xianjun Dong, Francesca Pasutto, Christopher J. Hammond, Terri L. Young, Pirro G. Hysi, Andrew Lotery, Eric Jorgenson, Hélène Choquet, Michael A. Hauser, Jessica N. Cooke Bailey, Toru Nakazawa, Masato Akiyama, Yukihiro Shiga, Zachary L. Fuller, Xin Wang, Alex W. Hewitt, Jamie E. Craig, Louis R. Pasquale, David A. Mackey, Janey L. Wiggs, Anthony P. Khawaja, Ayellet V. Segrè, Stuart MacGregor

    出版 2023
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  17. 17
    Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the<i>LOXL1</i>locus

    Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the<i>LOXL1</i>locus 由 Michael A. Hauser, Inas F. Aboobakar, Yutao Liu, Shiroh Miura, Benjamin T. Whigham, Pratap Challa, Joshua Wheeler, Andrew M. Williams, Cecelia Santiago-Turla, Xuejun Qin, Robyn M. Rautenbach, Ari Ziskind, Michèle Ramsay, Steffen Uebe, Lingyun Song, Alexias Safi, Eranga N. Vithana, Takanori Mizoguchi, S Nakano, Toshiaki Kubota, Ken Hayashi, Shin-ichi Manabe, Shigeyasu Kazama, Yosai Mori, Kazunori Miyata, Nagahisa Yoshimura, André Reis, Gregory E. Crawford, Francesca Pasutto, Trevor Carmichael, Susan Williams, Mineo Ozaki, Tin Aung, Chiea Chuen Khor, W. Daniel Stamer, Allison E. Ashley‐Koch, R. Rand Allingham

    出版 2015
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  18. 18
    Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

    Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity 由 Tomokazu Souma, Stuart W. Tompson, Benjamin R. Thomson, Owen M. Siggs, Krishnakumar Kizhatil, Shinji Yamaguchi, Liang Feng, Vachiranee Limviphuvadh, Kristina N. Whisenhunt, Sebastian Maurer‐Stroh, Tammy L. Yanovitch, Luba Kalaydjieva, Dimitar N. Azmanov, Simone Finzi, Lucia Mauri, Shahrbanou Javadiyan, Emmanuelle Souzeau, Tiger Zhou, Alex W. Hewitt, Bethany A. Kloss, Kathryn P. Burdon, David A. Mackey, Keri F. Allen, Jonathan B. Ruddle, Sing-Hui Lim, Steve Rozen, Khanh-Nhat Tran-Viet, Xiaorong Liu, Simon W. M. John, Janey L. Wiggs, Francesca Pasutto, Jamie E. Craig, Jing Jin, Susan E. Quaggin, Terri L. Young

    出版 2016
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  19. 19
    Common genetic variants associated with open-angle glaucoma

    Common genetic variants associated with open-angle glaucoma 由 Wishal D. Ramdas, Leonieke M. E. van Koolwijk, Hans G. Lemij, Francesca Pasutto, Angela J. Cree, Guðmar Þorleifsson, Sarah F. Janssen, ten Brink Jacoline, Najaf Amin, Fernando Rivadeneira, Roger C. W. Wolfs, G. Bragi Walters, Friðbert Jónasson, Nicole Weisschuh, Christian Y. Mardin, Jane Whitney Gibson, Richard H. C. Zegers, Albert Hofman, Paulus T.V.M. de Jong, André G. Uitterlinden, Ben A. Oostra, Unnur Þorsteinsdóttir, E. Gramer, Ulrich C. Welgen-Lüßen, James Kirwan, Arthur A. Bergen, André Reis, Kāri Stefánsson, Andrew Lotery, Johannes R. Vingerling, Nomdo M. Jansonius, Caroline C. W. Klaver, Cornelia M. van Duijn

    出版 2011
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  20. 20
    Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank

    Characteristics of p.Gln368Ter Myocilin Variant and Influence of Polygenic Risk on Glaucoma Penetrance in the UK Biobank 由 Nazlee Zebardast, Sayuri Sekimitsu, Jiali Wang, Tobias Elze, Puya Gharahkhani, Brian Cole, Michael M. Lin, Ayellet V. Segrè, Janey L. Wiggs, Tin Aung, Jamie E. Craig, Ching‐Yu Cheng, Jessica N. Cooke Bailey, Angela J. Cree, Paul J. Foster, Puya Gharahkhani, Christopher J. Hammond, Alex W. Hewitt, René Höhn, Pirro G. Hysi, Adriana I. Iglesias, Jost B. Jonas, Caroline C. W. Klaver, Anthony P. Khawaja, Chiea Chuen Khor, Andrew Lotery, Stuart MacGregor, David A. Mackey, Jue‐Sheng Ong, Paul Mitchell, Louis R. Pasquale, Chi‐Pui Pang, Francesca Pasutto, Norbert Pfeiffer, Ayellet V. Segrè, Cornelia M. van Duijn, Ananth C. Viswanathan, Véronique Vitart, Eranga N. Vithana, Janey L. Wiggs, Robert Wojciechowski, Terri L. Young, Tien Yin Wong, Seyhan Yazar

    出版 2021
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