检索结果 - Françoise Meire

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  1. 1
    Low vision affects dynamic stability of gait

    Low vision affects dynamic stability of gait 由 Ann Hallemans, Els Ortibus, Françoise Meire, Peter Aerts

    出版 2010
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  2. 2
    LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma

    LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma 由 Julie Désir, Yves Sznajer, Fanny Depasse, Françoise Roulez, Marc Schrooyen, Françoise Meire, Marc Abramowicz

    出版 2010
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  3. 3
    Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

    Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy 由 Julie Désir, Graciela Moya, Orit Reish, Nicole Van Regemorter, H. Deconinck, Karen L. David, Françoise Meire, Marc Abramowicz

    出版 2007
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  4. 4
    Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations

    Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations 由 Isabel M. Hanson, A Churchill, James Love, Richard A Axton, Tony Moore, Michael W. Clarke, Françoise Meire, Veronica van Heyningen

    出版 1999
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  5. 5
    Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease

    Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease 由 Melanie M. Sohocki, Isabelle Perrault, Bart P. Leroy, Annette Payne, Sharola Dharmaraj, Shomi S. Bhattacharya, Josseline Kaplan, Irene H. Maumenee, Robert K. Koenekoop, Françoise Meire, David G. Birch, John R. Heckenlively, Stephen P. Daiger

    出版 2000
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  6. 6
    Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness

    Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness 由 Maria M. van Genderen, Mieke M. C. Bijveld, Y. Claassen, Ralph J. Florijn, Jillian N. Pearring, Françoise Meire, Maureen A. McCall, Frans C. C. Riemslag, Ronald G. Gregg, Arthur A. Bergen, Maarten Kamermans

    出版 2009
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  7. 7
    Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy

    Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy 由 Frauke Coppieters, Kristof Van Schil, Miriam Bauwens, Hannah Verdin, Annelies De Jaegher, Delfien Syx, Tom Sante, Steve Lefever, N. Bouayed Abdelmoula, Fanny Depasse, Ingele Casteels, Thomy de Ravel, Françoise Meire, Bart P. Leroy, Elfride De Baere

    出版 2014
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  8. 8
    A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

    A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia 由 Susanne Kohl, Frauke Coppieters, Françoise Meire, Simone Schaich, Susanne Roosing, Christina Brennenstuhl, Sylvia Bolz, Maria M. van Genderen, Frans C. C. Riemslag, Robert Łukowski, Anneke I. den Hollander, Frans P.M. Cremers, Elfride De Baere, Carel B. Hoyng, Bernd Wissinger

    出版 2012
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  9. 9
    TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy

    TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy 由 Sylvain Hanein, Isabelle Perrault, Olivier Roche, S. Gerber, Noman Khadom, Marlène Rio, Nathalie Boddaert, Marc Jeanpierre, Nora Brahimi, Valérie Serre, Dominique Chrétien, Nathalie Delphin, Lucas Fares‐Taie, Sahran Lachheb, Agnès Rötig, Françoise Meire, Arnold Münnich, Jean‐Louis Dufier, Josseline Kaplan, Jean‐Michel Rozet

    出版 2009
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  10. 10
    Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

    Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes 由 Frauke Coppieters, Ingele Casteels, Françoise Meire, Sarah De Jaegere, Sally Hooghe, Nicole Van Regemorter, Hilde Van Esch, Aušra Matulevičienė, Luís Nunes, Valérie Meersschaut, Sophie Walraedt, Lieve Standaert, Paul Coucke, Heidi Hoeben, Hester Y. Kroes, Johan Vande Walle, Thomy de Ravel, Bart P. Leroy, Elfride De Baere

    出版 2010
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  11. 11
    Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1 , a Gene Implicated in Ubiquitination

    Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1 , a Gene Implicated in Ubiquitination 由 Frauke Coppieters, Giulia Ascari, Katharina Dannhausen, Konstantinos Nikopoulos, Frank Peelman, Marcus Karlstetter, Mingchu Xu, Cécile Brachet, Isabelle Meunier, Miltiadis K. Tsilimbaris, Chrysanthi Tsika, Styliani Blazaki, Sarah Vergult, Pietro Farinelli, Thalia Van Laethem, Miriam Bauwens, Marieke De Bruyne, Rui Chen, Thomas Langmann, Ruifang Sui, Françoise Meire, Carlo Rivolta, Christian P. Hamel, Bart Leroy, Elfride De Baere

    出版 2016
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  12. 12
    Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation

    Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation 由 Elfride De Baere, Michael J. Dixon, Kent W. Small, Ethylin Wang Jabs, Bart Leroy, K Devriendt, Y. Gillerot, Geert Mortier, Françoise Meire, Lionel Van Maldergem, Winnie Courtens, Helle Hjalgrim, Shangzhi Huang, I. Liebaers, Nicole Van Regemorter, Philippe Touraine, Verayuth Praphanphoj, Alain Verloès, Nitin Udar, Vivek S. Yellore, Meenal Chalukya, Svetlana Yelchits, Anne De Paepe, Frédérique Kuttenn, Marc Fellous, Reiner A. Veitia, Ludwine Messiaen

    出版 2001
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  13. 13
    Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome

    Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a Novel Disease-Causing Mechanism in Blepharophimosis Syndrome 由 Diane Beysen, Jeroen Raes, Bart P. Leroy, Anneke Lucassen, John R.W. Yates, Jill Clayton‐Smith, Helena G. Ilyina, Susan Sklower Brooks, Sophie Christin‐Maître, Marc Fellous, J. P. Fryns, J.R. Kim, Pablo Lapunzina, Emmanuelle Lemyre, Françoise Meire, Ludwine Messiaen, Christine Oley, Miranda Splitt, James Thomson, Yves Van de Peer, Reiner A. Veitia, Anne De Paepe, Elfride De Baere

    出版 2005
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  14. 14
    Expanding the Spectrum of<i>FOXC1</i>and<i>PITX2</i>Mutations and Copy Number Changes in Patients with Anterior Segment Malformations

    Expanding the Spectrum of<i>FOXC1</i>and<i>PITX2</i>Mutations and Copy Number Changes in Patients with Anterior Segment Malformations 由 Barbara D′haene, Françoise Meire, Ilse Claerhout, Hester Y. Kroes, Astrid S. Plomp, Yvonne Arens, Thomy de Ravel, Ingele Casteels, Sarah De Jaegere, Sally Hooghe, Wim Wuyts, Jenneke van den Ende, Françoise Roulez, Hermine E. Veenstra‐Knol, Rogier A. Oldenburg, Jacques C. Giltay, Johanna B. G. M. Verheij, Jan-Tjeerd de Faber, Björn Menten, Anne De Paepe, Philippe Kestelyn, Bart P. Leroy, Elfride De Baere

    出版 2010
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  15. 15
    Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction

    Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction 由 Kathleen A. Williamson, Hildegard Nikki Hall, Liusaidh J. Owen, Benjamin Livesey, Isabel M. Hanson, Gill Adams, Simon Bodek, Patrick Calvas, Bruce Castle, Michael W. Clarke, Alexander T. Deng, Patrick Edery, Richard Fisher, Gabriele Gillessen‐Kaesbach, Elise Héon, Jane A. Hurst, Dragana Josifova, Birgit Lorenz, Shane McKee, Françoise Meire, Anthony T. Moore, Michael Parker, Charlotte Reiff, Jay Self, Edward S. Tobias, Joanne Verheij, Marjolaine Willems, Denise Williams, Veronica van Heyningen, Joseph A. Marsh, David Fitzpatrick

    出版 2019
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  16. 16
    Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

    Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness 由 Ajoy Vincent, Isabelle Audo, Erika Tavares, Jason T. Maynes, Anupreet Tumber, Tom Wright, Shuning Li, Christelle Michiels, Christel Condroyer, H. Robson MacDonald, R Verdet, José‐Alain Sahel, Christian Hamel, Christina Zeitz, Elise Héon, Eyal Banin, Béatrice Bocquet, Elfride De Baere, Ingele Casteels, Sabine Defoort‐Dhellemmes, Isabelle Drumare, Christoph Friedburg, Irène Gottlob, Samuel G. Jacobson, Ulrich Kellner, Robert K. Koenekoop, Susanne Kohl, Bart P. Leroy, Birgit Lorenz, Rebecca J. McLean, Françoise Meire, Isabelle Meunier, Francis L. Munier, Thomy de Ravel, Charlotte Reiff, Saddek Mohand‐Saïd, Dror Sharon, Daniel F. Schorderet, Sharon Schwartz, Xavier Zanlonghi

    出版 2016
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  17. 17
    A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect

    A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect 由 Meriel McEntagart, Kathleen A. Williamson, Jacqueline K. Rainger, Ann P. Wheeler, Anne Seawright, Elfride De Baere, Hannah Verdin, L. Therese Bergendahl, Alan J. Quigley, Joe Rainger, Abhijit Dixit, Ajoy Sarkar, Eduardo Laso, Rocío Sánchez‐Carpintero, Jesús Barrio‐Barrio, Pierre Bitoun, Trine Prescott, Ruth Riise, Shane McKee, Jackie Cook, Lisa McKie, Berten Ceulemans, Françoise Meire, I. Karen Temple, Fabienne Prieur, Jonathan Williams, Penny Clouston, Andrea H. Németh, Siddharth Banka, Hemant Bengani, Mark T. Handley, Elisabeth Freyer, Allyson Ross, Veronica van Heyningen, Joseph A. Marsh, Frances Elmslie, David Fitzpatrick

    出版 2016
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  18. 18
    Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

    Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness 由 Isabelle Audo, Kinga M. Bujakowska, Elise Orhan, Charlotte M. Poloschek, Sabine Defoort‐Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D. Luu, Odile Lecompte, Eberhart Zrenner, Marie‐Elise Lancelot, Aline Antonio, Aurore Germain, Christelle Michiels, Claire Audier, Mélanie Letexier, Jean‐Paul Saraiva, Bart P. Leroy, Francis L. Munier, Saddek Mohand‐Saïd, Birgit Lorenz, Christoph Friedburg, Markus N. Preising, Ulrich Kellner, Agnes B. Renner, Veselina Moskova‐Doumanova, Wolfgang Berger, Bernd Wissinger, Christian Hamel, Daniel F. Schorderet, Elfride De Baere, Dror Sharon, Eyal Banin, Samuel G. Jacobson, Dominique Bonneau, Xavier Zanlonghi, Guylène Le Meur, Ingele Casteels, Robert K. Koenekoop, Vernon Long, Françoise Meire, Katrina Prescott, Thomy de Ravel, Ian Simmons, Hoan Nguyen, Hélène Dollfus, Olivier Poch, Thierry Léveillard, Kim T. Nguyen-Ba-Charvet, José‐Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz

    出版 2012
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  19. 19
    Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

    Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome 由 Morad Ansari, Jacqueline K. Rainger, Isabel M. Hanson, Kathleen A. Williamson, Freddie H. Sharkey, Louise Harewood, Angela Sandilands, Jill Clayton‐Smith, Hélène Dollfus, Pierre Bitoun, Françoise Meire, Judy Fantes, Brunella Franco, Birgit Lorenz, David S. Taylor, Fiona Stewart, Colin E. Willoughby, Meriel McEntagart, Peng T. Khaw, Carol L. Clericuzio, Lionel Van Maldergem, Denise Williams, Ruth Newbury‐Ecob, Elias I. Traboulsi, Eduardo Silva, Mukhlis M. Madlom, David Goudie, Brian W. Fleck, Dagmar Wieczorek, Juergen Kohlhase, Alice McTrusty, Carol Gardiner, Christopher Yale, Anthony T. Moore, Isabelle Russell‐Eggitt, Lily Islam, Melissa Lees, Philip L. Beales, Stephen J. Tuft, Juan B. Solano, Miranda Splitt, Jens Michael Hertz, Trine Prescott, Deborah Shears, Ken K. Nischal, Martine Doco‐Fenzy, Fabienne Prieur, I. Karen Temple, Katherine Lachlan, Giuseppe Damante, Danny Morrison, Veronica van Heyningen, David Fitzpatrick

    出版 2016
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