Ruiz A - Search Results

1

High prevalence of the C634Y mutation in the RET proto-oncogene in MEN 2A families in Spain.

Sánchez B, Robledo M, Biarnes J, Sáez ME, Volpini V, Benítez J, Navarro E, Ruiz A, Antiñolo G, Borrego S. Sánchez B, et al. Among authors: ruiz a. J Med Genet. 1999 Jan;36(1):68-70. J Med Genet. 1999. PMID: 9950371 Free PMC article.

2

Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa.

Borrego S, Sánchez B, Ruiz A, Antiñolo G. Borrego S, et al. Among authors: ruiz a. Hum Mutat. 1996;7(2):180-1. doi: 10.1002/humu.1380070202. Hum Mutat. 1996. PMID: 8829641 No abstract available.

3

PCR mutagenesis-based method for generation of positive controls for SSCP analysis.

Ruiz A, Antiñolo G, Borrego S, Sánchez B, Sánchez J. Ruiz A, et al. Biotechniques. 1997 Oct;23(4):704-8. doi: 10.2144/97234st04. Biotechniques. 1997. PMID: 9343696 Free article.

4

Inherited susceptibility to several cancers but absence of linkage between dysplastic nevus syndrome and CDKN2A in a melanoma family with a mutation in the CDKN2A (P16INK4A) gene.

Puig S, Ruiz A, Castel T, Volpini V, Malvehy J, Cardellach F, Lynch M, Mascaro JM, Estivill X. Puig S, et al. Among authors: ruiz a. Hum Genet. 1997 Dec;101(3):359-64. doi: 10.1007/s004390050642. Hum Genet. 1997. PMID: 9439668

5

A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters.

Ruiz A, Borrego S, Marcos I, Antiñolo G. Ruiz A, et al. Am J Hum Genet. 1998 Jun;62(6):1452-9. doi: 10.1086/301866. Am J Hum Genet. 1998. PMID: 9585594 Free PMC article.

6

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression.

Borrego S, Sáez ME, Ruiz A, Gimm O, López-Alonso M, Antiñolo G, Eng C. Borrego S, et al. Among authors: ruiz a. J Med Genet. 1999 Oct;36(10):771-4. doi: 10.1136/jmg.36.10.771. J Med Genet. 1999. PMID: 10528857 Free PMC article.

7

A new germline mutation, R600Q, within the coding region of RET proto-oncogene: a rare polymorphism or a MEN 2 causing mutation?

Sáez ME, Ruiz A, Cebrián A, Morales F, Robledo M, Antiñolo G, Borrego S. Sáez ME, et al. Among authors: ruiz a. Hum Mutat. 2000 Jan;15(1):122. doi: 10.1002/(SICI)1098-1004(200001)15:1<122::AID-HUMU41>3.0.CO;2-7. Hum Mutat. 2000. PMID: 10612852 No abstract available.

8

Mutation analysis of GABRR1 and GABRR2 in autosomal recessive retinitis pigmentosa.

Marcos I, Ruiz A, Blaschak CJ, Borrego S, Cutting GR, Antinolo G. Marcos I, et al. Among authors: ruiz a. J Med Genet. 2000 Jun;37(6):E5. doi: 10.1136/jmg.37.6.e5. J Med Genet. 2000. PMID: 10851258 Free PMC article. No abstract available.

9

CDKN2A mutations in Spanish cutaneous malignant melanoma families and patients with multiple melanomas and other neoplasia.

Ruiz A, Puig S, Malvehy J, Lázaro C, Lynch M, Gimenez-Arnau AM, Puig L, Sánchez-Conejo J, Estivill X, Castel T. Ruiz A, et al. J Med Genet. 1999 Jun;36(6):490-3. J Med Genet. 1999. PMID: 10874641 Free PMC article.

10

RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease.

Borrego S, Ruiz A, Saez ME, Gimm O, Gao X, López-Alonso M, Hernández A, Wright FA, Antiñolo G, Eng C. Borrego S, et al. Among authors: ruiz a. J Med Genet. 2000 Aug;37(8):572-8. doi: 10.1136/jmg.37.8.572. J Med Genet. 2000. PMID: 10922382 Free PMC article.

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