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Page 1
Structural and functional analysis of mutations in alkaptonuria.
Rodríguez JM, Timm DE, Titus GP, Beltrán-Valero De Bernabé D, Criado O, Mueller HA, Rodríguez De Córdoba S, Peñalva MA. Rodríguez JM, et al. Hum Mol Genet. 2000 Sep 22;9(15):2341-50. doi: 10.1093/oxfordjournals.hmg.a018927. Hum Mol Genet. 2000. PMID: 11001939
The molecular basis of alkaptonuria.
Fernández-Cañón JM, Granadino B, Beltrán-Valero de Bernabé D, Renedo M, Fernández-Ruiz E, Peñalva MA, Rodríguez de Córdoba S. Fernández-Cañón JM, et al. Nat Genet. 1996 Sep;14(1):19-24. doi: 10.1038/ng0996-19. Nat Genet. 1996. PMID: 8782815
The human homogentisate 1,2-dioxygenase (HGO) gene.
Granadino B, Beltrán-Valero de Bernabé D, Fernández-Cañón JM, Peñalva MA, Rodríguez de Córdoba S. Granadino B, et al. Genomics. 1997 Jul 15;43(2):115-22. doi: 10.1006/geno.1997.4805. Genomics. 1997. PMID: 9244427
Mutational analysis of the HGO gene in Finnish alkaptonuria patients.
Beltrán-Valero de Bernabé D, Peterson P, Luopajärvi K, Matintalo P, Alho A, Konttinen Y, Krohn K, Rodríguez de Córdoba S, Ranki A. Beltrán-Valero de Bernabé D, et al. J Med Genet. 1999 Dec;36(12):922-3. J Med Genet. 1999. PMID: 10594001 Free PMC article.
Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome.
Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, Celli J, van Beusekom E, van der Zwaag B, Kayserili H, Merlini L, Chitayat D, Dobyns WB, Cormand B, Lehesjoki AE, Cruces J, Voit T, Walsh CA, van Bokhoven H, Brunner HG. Beltrán-Valero de Bernabé D, et al. Am J Hum Genet. 2002 Nov;71(5):1033-43. doi: 10.1086/342975. Epub 2002 Oct 4. Am J Hum Genet. 2002. PMID: 12369018 Free PMC article.
Intragenic deletion in the LARGE gene causes Walker-Warburg syndrome.
van Reeuwijk J, Grewal PK, Salih MA, Beltrán-Valero de Bernabé D, McLaughlan JM, Michielse CB, Herrmann R, Hewitt JE, Steinbrecher A, Seidahmed MZ, Shaheed MM, Abomelha A, Brunner HG, van Bokhoven H, Voit T. van Reeuwijk J, et al. Among authors: beltran valero de bernabe d. Hum Genet. 2007 Jul;121(6):685-90. doi: 10.1007/s00439-007-0362-y. Epub 2007 Apr 14. Hum Genet. 2007. PMID: 17436019 Free PMC article.
POMT2 mutations cause alpha-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 MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H. van Reeuwijk J, et al. Among authors: beltran valero de bernabe d. J Med Genet. 2005 Dec;42(12):907-12. doi: 10.1136/jmg.2005.031963. Epub 2005 May 13. J Med Genet. 2005. PMID: 15894594 Free PMC article.
18 results