A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype
Beltrán-Valero de Bernabé, D, van Bokhoven, H, van Beusekom, E, Van den Akker, W, Kant, S, Dobyns, W B, Cormand, B, Currier, S, Hamel, B, Talim, B, Topaloglu, H, Brunner, H G
Published in Journal of medical genetics (01.11.2003)
Published in Journal of medical genetics (01.11.2003)
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Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker–Warburg syndrome
Beltran-Valero de Bernabé, D, Voit, T, Longman, C, Steinbrecher, A, Straub, V, Yuva, Y, Herrmann, R, Sperner, J, Korenke, C, Diesen, C, Dobyns, W B, Brunner, H G, van Bokhoven, H, Brockington, M, Muntoni, F
Published in Journal of medical genetics (01.05.2004)
Published in Journal of medical genetics (01.05.2004)
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Journal Article
Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients
Beltrán-Valero de Bernabé, D., Granadino, B., Chiarelli, I., Porfirio, B., Mayatepek, E., Aquaron, R., Moore, M.M., Festen, J.J.M., Sanmartí, R., Peñalva, M.A., Rodríguez de Córdoba, S.
Published in American journal of human genetics (01.04.1998)
Published in American journal of human genetics (01.04.1998)
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Journal Article
POMT2 mutations cause α-dystroglycan hypoglycosylation and Walker-Warburg syndrome
van Reeuwijk, J, Janssen, M, van den Elzen, C, Beltran-Valero de Bernabé, D, Sabatelli, P, Merlini, L, Boon, M, Scheffer, H, Brockington, M, Muntoni, F, Huynen, M A, Verrips, A, Walsh, C A, Barth, P G, Brunner, H G, van Bokhoven, H
Published in Journal of medical genetics (01.12.2005)
Published in Journal of medical genetics (01.12.2005)
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Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome
Beltrán-Valero de Bernabé, Daniel, Currier, Sophie, Steinbrecher, Alice, Celli, Jacopo, van Beusekom, Ellen, van der Zwaag, Bert, Kayserili, Hülya, Merlini, Luciano, Chitayat, David, Dobyns, William B., Cormand, Bru, Lehesjoki, Ana-Elina, Cruces, Jesús, Voit, Thomas, Walsh, Christopher A., van Bokhoven, Hans, Brunner, Han G.
Published in American journal of human genetics (01.11.2002)
Published in American journal of human genetics (01.11.2002)
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Journal Article
Analysis of Alkaptonuria (AKU) Mutations and Polymorphisms Reveals that the CCC Sequence Motif Is a Mutational Hot Spot in the Homogentisate 1,2 Dioxygenase Gene ( HGO )
Beltrán-Valero de Bernabé, D., Jimenez, F.J., Aquaron, R., Rodríguez de Córdoba, S.
Published in American journal of human genetics (01.05.1999)
Published in American journal of human genetics (01.05.1999)
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Journal Article
D.I.4 Patient fibroblast functional complementation studies: A valuable tool in the identification of novel Walker–Warburg syndrome disease genes
Willer, T, Lee, H, Lommel, M, Yoshida-Moriguchi, T, Beltran Valero de Bernabe, D, Venzke, D, Cirak, S, Schachter, H, Vajsar, J, Voit, T, Muntoni, F, Strahl, S, Mathews, K.D, Nelson, S.F, Moore, S.A, Campbell, K.P
Published in Neuromuscular disorders : NMD (01.10.2012)
Published in Neuromuscular disorders : NMD (01.10.2012)
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The molecular basis of alkaptonuria
Granadino, Begoña, Fernández-Cañón, José M, De Córdoba, Santiago Rodríguez, De Bernabé, Daniel Beltrán-Valero, Renedo, Mónica, Fernández-Ruiz, Elena, Peñalva, Miguel A
Published in Nature genetics (01.09.1996)
Published in Nature genetics (01.09.1996)
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Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10
van der Zwaag, B, Verzijl, H T F M, Beltran-Valero de Bernabe, D, Schuster, V L, van Bokhoven, H, Kremer, H, van Reen, M, Wichers, G H, Brunner, H G, Padberg, G W
Published in Journal of medical genetics (01.06.2002)
Published in Journal of medical genetics (01.06.2002)
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Journal Article
The Human Homogentisate 1,2-Dioxygenase (HGO) Gene
Granadino, B., de Bernabé, D.Beltrán-Valero, Fernández-Cañón, J.M., Peñalva, M.A., de Córdoba, S.Rodrı́guez
Published in Genomics (San Diego, Calif.) (15.07.1997)
Published in Genomics (San Diego, Calif.) (15.07.1997)
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High Frequency of Alkaptonuria in Slovakia: Evidence for the Appearance of Multiple Mutations in HGO Involving Different Mutational Hot Spots
ZATKOVA, Andrea, BELTRAN VALERO DE BERNABE, Daniel, POLAKOVA, Helena, ZVARIK, Marek, FERAKOVA, Eva, BOSAK, Vladimir, FERAK, Vladimir, KADASI, Udovit, RODRIGUEZ DE CORDOBA, Santiago
Published in American journal of human genetics (01.11.2000)
Published in American journal of human genetics (01.11.2000)
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Journal Article
A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy
Hara, Yuji, Balci-Hayta, Burcu, Yoshida-Moriguchi, Takako, Kanagawa, Motoi, Beltrán-Valero de Bernabé, Daniel, Gündeşli, Hülya, Willer, Tobias, Satz, Jakob S, Crawford, Robert W, Burden, Steven J, Kunz, Stefan, Oldstone, Michael B.A, Accardi, Alessio, Talim, Beril, Muntoni, Francesco, Topaloğlu, Haluk, Dinçer, Pervin, Campbell, Kevin P
Published in The New England journal of medicine (10.03.2011)
Published in The New England journal of medicine (10.03.2011)
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Sequence analysis of the PLEXIN-D1 gene in Möbius syndrome patients
van der Zwaag, Bert, Verzijl, Harriette T.F.M., Wichers, Karin H., Beltran-Valero de Bernabe, Daniel, Brunner, Han G., van Bokhoven, Hans, Padberg, George W.
Published in Pediatric neurology (01.08.2004)
Published in Pediatric neurology (01.08.2004)
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Journal Article
Mutational analysis of the HGO gene in Finnish alkaptonuria patients
de Bernabé, Daniel Beltrán-Valero, Peterson, Pärt, Luopajärvi, Kristiina, Matintalo, Pirjo, Alho, Antti, Konttinen, Yrjö, Krohn, Kai, de Córdoba, Santiago Rodríguez, Ranki, Annamari
Published in Journal of medical genetics (01.12.1999)
Published in Journal of medical genetics (01.12.1999)
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Journal Article
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome
Beltran-Valero de Bernabé, D, Voit, T, Longman, C, Steinbrecher, A, Straub, V, Yuva, Y, Herrmann, R, Sperner, J, Korenke, C, Diesen, C, Dobyns, W B, Brunner, H G, van Bokhoven, H, Brockington, M, Muntoni, F
Published in Journal of medical genetics (01.05.2004)
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Published in Journal of medical genetics (01.05.2004)
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Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene
PORFIRIO, BERARDINO, CHIARELLI, ILARIA, GRAZIANO, CLAUDIO, MANNONI, ALESSANDRO, MORRONE, AMELIA, ZAMMARCHI, ENRICO, DE BERNABÉ, DANIEL BELTRÁN-VALERO, DE CÓRDOBA, SANTIAGO RODRÍGUEZ
Published in Journal of medical genetics (01.04.2000)
Published in Journal of medical genetics (01.04.2000)
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