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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1996 1
1997 1
1998 1
1999 2
2000 1
2002 2
2003 1
2004 2
2005 1
2007 1
2010 2
2011 1
2012 1
2013 1
2014 1
2023 0

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18 results

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Page 1
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. Among authors: beltran valero de bernabe d. 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. Among authors: beltran valero de bernabe d. Genomics. 1997 Jul 15;43(2):115-22. doi: 10.1006/geno.1997.4805. Genomics. 1997. PMID: 9244427
A dystroglycan mutation associated with limb-girdle muscular dystrophy.
Hara Y, Balci-Hayta B, Yoshida-Moriguchi T, Kanagawa M, Beltrán-Valero de Bernabé D, Gündeşli H, Willer T, Satz JS, Crawford RW, Burden SJ, Kunz S, Oldstone MB, Accardi A, Talim B, Muntoni F, Topaloğlu H, Dinçer P, Campbell KP. Hara Y, et al. Among authors: beltran valero de bernabe d. N Engl J Med. 2011 Mar 10;364(10):939-46. doi: 10.1056/NEJMoa1006939. N Engl J Med. 2011. PMID: 21388311 Free PMC article.
Loss of LARGE2 disrupts functional glycosylation of α-dystroglycan in prostate cancer.
Esser AK, Miller MR, Huang Q, Meier MM, Beltran-Valero de Bernabé D, Stipp CS, Campbell KP, Lynch CF, Smith BJ, Cohen MB, Henry MD. Esser AK, et al. Among authors: beltran valero de bernabe d. J Biol Chem. 2013 Jan 25;288(4):2132-42. doi: 10.1074/jbc.M112.432807. Epub 2012 Dec 6. J Biol Chem. 2013. PMID: 23223448 Free PMC article.
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. Among authors: beltran valero de bernabe d. Hum Mol Genet. 2000 Sep 22;9(15):2341-50. doi: 10.1093/oxfordjournals.hmg.a018927. Hum Mol Genet. 2000. PMID: 11001939
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.
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.
18 results