A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia
Kohl, Susanne, Coppieters, Frauke, Meire, Françoise, Schaich, Simone, Roosing, Susanne, Brennenstuhl, Christina, Bolz, Sylvia, van Genderen, Maria M., Riemslag, Frans C.C., Lukowski, Robert, den Hollander, Anneke I., Cremers, Frans P.M., De Baere, Elfride, Hoyng, Carel B., Wissinger, Bernd
Published in American journal of human genetics (07.09.2012)
Published in American journal of human genetics (07.09.2012)
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An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients
Bauwens, Miriam, De Zaeytijd, Julie, Weisschuh, Nicole, Kohl, Susanne, Meire, Françoise, Dahan, Karin, Depasse, Fanny, De Jaegere, Sarah, De Ravel, Thomy, De Rademaeker, Marjan, Loeys, Bart, Coppieters, Frauke, Leroy, Bart P., De Baere, Elfride
Published in Human mutation (01.01.2015)
Published in Human mutation (01.01.2015)
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TMEM126A, Encoding a Mitochondrial Protein, Is Mutated in Autosomal-Recessive Nonsyndromic Optic Atrophy
Hanein, Sylvain, Perrault, Isabelle, Roche, Olivier, Gerber, Sylvie, Khadom, Noman, Rio, Marlene, Boddaert, Nathalie, Jean-Pierre, Marc, Brahimi, Nora, Serre, Valérie, Chretien, Dominique, Delphin, Nathalie, Fares-Taie, Lucas, Lachheb, Sahran, Rotig, Agnès, Meire, Françoise, Munnich, Arnold, Dufier, Jean-Louis, Kaplan, Josseline, Rozet, Jean-Michel
Published in American journal of human genetics (01.04.2009)
Published in American journal of human genetics (01.04.2009)
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Identity-by-descent–guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy
Coppieters, Frauke, Van Schil, Kristof, Bauwens, Miriam, Verdin, Hannah, De Jaegher, Annelies, Syx, Delfien, Sante, Tom, Lefever, Steve, Abdelmoula, Nouha Bouayed, Depasse, Fanny, Casteels, Ingele, de Ravel, Thomy, Meire, Françoise, Leroy, Bart P., De Baere, Elfride
Published in Genetics in medicine (01.09.2014)
Published in Genetics in medicine (01.09.2014)
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Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5′UTR Mutations and Copy-Number Variations of NMNAT1
Coppieters, Frauke, Todeschini, Anne Laure, Fujimaki, Takuro, Baert, Annelot, De Bruyne, Marieke, Van Cauwenbergh, Caroline, Verdin, Hannah, Bauwens, Miriam, Ongenaert, Maté, Kondo, Mineo, Meire, Françoise, Murakami, Akira, Veitia, Reiner A., Leroy, Bart P., De Baere, Elfride
Published in Human mutation (01.12.2015)
Published in Human mutation (01.12.2015)
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FOXL2 and BPES: Mutational Hotspots, Phenotypic Variability, and Revision of the Genotype-Phenotype Correlation
De Baere, Elfride, Beysen, Diane, Oley, Christine, Lorenz, Birgit, Cocquet, Julie, De Sutter, Paul, Devriendt, Koen, Dixon, Michael, Fellous, Marc, Fryns, Jean-Pierre, Garza, Arturo, Jonsrud, Christoffer, Koivisto, Pasi A., Krause, Amanda, Leroy, Bart P., Meire, Françoise, Plomp, Astrid, Van Maldergem, Lionel, De Paepe, Anne, Veitia, Reiner, Messiaen, Ludwine
Published in American journal of human genetics (01.02.2003)
Published in American journal of human genetics (01.02.2003)
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Uncommon Leber "plus" disease associated with mitochondrial mutation m.11778G>A in a premature child
Paquay, Stéphanie, Benoit, Valérie, Wetzburger, Catherine, Cordonnier, Monique, Meire, Françoise, Charon, Anne, Roland, Dominique, Van Coster, Rudy, Nassogne, Marie-Cécile, Maystadt, Isabelle
Published in Journal of child neurology (01.08.2014)
Published in Journal of child neurology (01.08.2014)
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Journal Article
Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1
Coppieters, Frauke, Todeschini, Anne Laure, Fujimaki, Takuro, Baert, Annelot, De Bruyne, Marieke, Van Cauwenbergh, Caroline, Verdin, Hannah, Bauwens, Miriam, Ongenaert, Maté, Kondo, Mineo, Meire, Françoise, Murakami, Akira, Veitia, Reiner A, Leroy, Bart P, De Baere, Elfride
Published in Human mutation (01.12.2015)
Published in Human mutation (01.12.2015)
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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
DE BAERE, Elfride, DIXON, Michael J, COURTENS, Winnie, HJALGRIM, Helle, SHANGZHI HUANG, LIEBAERS, Inge, VAN REGEMORTER, Nicole, TOURAINE, Philippe, PRAPHANPHOJ, Verayuth, VERLOES, Alain, UDAR, Nitin, YELLORE, Vivek, SMALL, Kent W, CHALUKYA, Meenal, YELCHITS, Svetlana, DE PAEPE, Anne, KUTTENN, Frédérique, FELLOUS, Marc, VEITIA, Reiner, MESSIAEN, Ludwine, JABS, Ethylin W, LEROY, Bart P, DEVRIENDT, Koenraad, GILLEROT, Yves, MORTIER, Geert, MEIRE, Francoise, VAN MALDERGEM, Lionel
Published in Human molecular genetics (15.07.2001)
Published in Human molecular genetics (15.07.2001)
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Low vision affects dynamic stability of gait
Hallemans, Ann, Ortibus, Els, Meire, Francoise, Aerts, Peter
Published in Gait & posture (01.10.2010)
Published in Gait & posture (01.10.2010)
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Nonsyndromic bilateral and unilateral optic nerve aplasia: first familial occurrence and potential implication of CYP26A1 and CYP26C1 genes
Meire, Françoise, Delpierre, Isabelle, Brachet, Cecile, Roulez, Françoise, Van Nechel, Christian, Depasse, Fanny, Christophe, Catherine, Menten, Björn, De Baere, Elfride
Published in Molecular vision (2011)
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Published in Molecular vision (2011)
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Corneal Opacities in the Hallermann-Streiff Syndrome
Roulez, Françoise M., Schuil, Josée, Meire, Françoise M.
Published in Ophthalmic genetics (01.06.2008)
Published in Ophthalmic genetics (01.06.2008)
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Mitochondrial mutations of Leber's hereditary optic neuropathy : a risk factor for multiple sclerosis
VANOPDENBOSCH, L, DUBOIS, B, D'HOOGHE, M.-B, MEIRE, F, CARTON, H
Published in Journal of neurology (01.07.2000)
Published in Journal of neurology (01.07.2000)
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Mutations in TRPM1 Are a Common Cause of Complete Congenital Stationary Night Blindness
van Genderen, Maria M., Bijveld, Mieke M.C., Claassen, Yvonne B., Florijn, Ralph J., Pearring, Jillian N., Meire, Francoise M., McCall, Maureen A., Riemslag, Frans C.C., Gregg, Ronald G., Bergen, Arthur A.B., Kamermans, Maarten
Published in American journal of human genetics (13.11.2009)
Published in American journal of human genetics (13.11.2009)
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A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
McEntagart, Meriel, Williamson, Kathleen A., Rainger, Jacqueline K., Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L. Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I. Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H., Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, van Heyningen, Veronica, Marsh, Joseph A., Elmslie, Frances, FitzPatrick, David R.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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IQCB1 mutations in patients with leber congenital amaurosis
Estrada-Cuzcano, Alejandro, Koenekoop, Robert K, Coppieters, Frauke, Kohl, Susanne, Lopez, Irma, Collin, Rob W J, De Baere, Elfride B W, Roeleveld, Debbie, Marek, Jonah, Bernd, Antje, Rohrschneider, Klaus, van den Born, L Ingeborgh, Meire, Françoise, Maumenee, Irene H, Jacobson, Samuel G, Hoyng, Carel B, Zrenner, Eberhart, Cremers, Frans P M, den Hollander, Anneke I
Published in Investigative ophthalmology & visual science (11.02.2011)
Published in Investigative ophthalmology & visual science (11.02.2011)
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Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy
Desir, Julie, Moya, Graciela, Reish, Orit, Van Regemorter, Nicole, Deconinck, Hilde, David, Karen L, Meire, Françoise M, Abramowicz, Marc J
Published in Journal of medical genetics (01.05.2007)
Published in Journal of medical genetics (01.05.2007)
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Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA–protein interaction
Williamson, Kathleen A., Hall, H. Nikki, Owen, Liusaidh J., Livesey, Benjamin J., Hanson, Isabel M., Adams, G., Bodek, Simon, Calvas, Patrick, Castle, Bruce, Clarke, Michael, Deng, Alexander T., Edery, Patrick, Fisher, Richard, Gillessen-Kaesbach, Gabriele, Heon, Elise, Hurst, Jane, Josifova, Dragana, Lorenz, Birgit, McKee, Shane, Meire, Francoise, Moore, Anthony T., Parker, Michael, Reiff, Charlotte M., Self, Jay, Tobias, Edward S., Verheij, Joke B., Willems, Marjolaine, Williams, Denise, van Heyningen, Veronica, Marsh, Joseph A., FitzPatrick, David R.
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
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Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion
Van Schil, Kristof, Meire, Françoise, Karlstetter, Marcus, Bauwens, Miriam, Verdin, Hannah, Coppieters, Frauke, Scheiffert, Eva, Van Nechel, Christian, Langmann, Thomas, Deconinck, Nicolas, De Baere, Elfride
Published in Genetics in medicine (01.04.2015)
Published in Genetics in medicine (01.04.2015)
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