Valero MC - Search Results

1

Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis.

Melean G, Hernández AM, Valero MC, Hernández-Imaz E, Martín Y, Hernández-Chico C. Melean G, et al. Among authors: valero mc. BMC Cancer. 2010 Aug 5;10:407. doi: 10.1186/1471-2407-10-407. BMC Cancer. 2010. PMID: 20687928 Free PMC article.

2

A highly sensitive genetic protocol to detect NF1 mutations.

Valero MC, Martín Y, Hernández-Imaz E, Marina Hernández A, Meleán G, Valero AM, Javier Rodríguez-Álvarez F, Tellería D, Hernández-Chico C. Valero MC, et al. Among authors: valero am. J Mol Diagn. 2011 Mar;13(2):113-22. doi: 10.1016/j.jmoldx.2010.09.002. J Mol Diagn. 2011. PMID: 21354044 Free PMC article.

3

Identification of de novo deletions at the NF1 gene: no preferential paternal origin and phenotypic analysis of patients.

Valero MC, Pascual-Castroviejo I, Velasco E, Moreno F, Hernández-Chico C. Valero MC, et al. Hum Genet. 1997 Jun;99(6):720-6. doi: 10.1007/s004390050438. Hum Genet. 1997. PMID: 9187663

4

Linkage disequilibrium between four intragenic polymorphic microsatellites of the NF1 gene and its implications for genetic counselling.

Valero MC, Velasco E, Valero A, Moreno F, Hernández-Chico C. Valero MC, et al. Among authors: valero a. J Med Genet. 1996 Jul;33(7):590-3. doi: 10.1136/jmg.33.7.590. J Med Genet. 1996. PMID: 8818946 Free PMC article.

5

Characterization of four mutations in the neurofibromatosis type 1 gene by denaturing gradient gel electrophoresis (DGGE).

Valero MC, Velasco E, Moreno F, Hernández-Chico C. Valero MC, et al. Hum Mol Genet. 1994 Apr;3(4):639-41. doi: 10.1093/hmg/3.4.639. Hum Mol Genet. 1994. PMID: 8069310

6

Dinucleotide repeat polymorphisms at the D5S1356, D5S1357 and D7S1480 loci.

Velasco E, de la Puente A, Cruces J, Valero MC, García-Patiño E, del Castillo I, Coloma A, Moreno F, Hernández-Chico C. Velasco E, et al. Among authors: valero mc. Hum Mol Genet. 1994 Aug;3(8):1441. doi: 10.1093/hmg/3.8.1441. Hum Mol Genet. 1994. PMID: 7987335 No abstract available.

7

Breakpoint characterization of a novel NF1 multiexonic deletion: a case showing expression of the mutated allele.

Orzan F, Stroppi M, Venturin M, Valero MC, Hernández C, Riva P. Orzan F, et al. Among authors: valero mc. Neurogenetics. 2008 May;9(2):95-100. doi: 10.1007/s10048-007-0115-z. Epub 2008 Jan 10. Neurogenetics. 2008. PMID: 18196300

8

Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome.

Cotarelo RP, Valero MC, Prados B, Peña A, Rodríguez L, Fano O, Marco JJ, Martínez-Frías ML, Cruces J. Cotarelo RP, et al. Among authors: valero mc. Clin Genet. 2008 Feb;73(2):139-45. doi: 10.1111/j.1399-0004.2007.00936.x. Epub 2007 Dec 19. Clin Genet. 2008. PMID: 18177472

9

WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog.

de Luis O, Valero MC, Jurado LA. de Luis O, et al. Among authors: valero mc. Eur J Hum Genet. 2000 Mar;8(3):215-22. doi: 10.1038/sj.ejhg.5200435. Eur J Hum Genet. 2000. PMID: 10780788

10

Essential role of the N-terminal region of TFII-I in viability and behavior.

Lucena J, Pezzi S, Aso E, Valero MC, Carreiro C, Dubus P, Sampaio A, Segura M, Barthelemy I, Zindel MY, Sousa N, Barbero JL, Maldonado R, Pérez-Jurado LA, Campuzano V. Lucena J, et al. Among authors: valero mc. BMC Med Genet. 2010 Apr 19;11:61. doi: 10.1186/1471-2350-11-61. BMC Med Genet. 2010. PMID: 20403157 Free PMC article.

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