Sanz R - Search Results

1

First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. Online.

Trujillo MJ, Sanz R, Rodriguez de Alba M, Lorda I, Ramos C, Ibañez A, García-Sandoval B, Ayuso C. Trujillo MJ, et al. Among authors: sanz r. Hum Mutat. 1998;12(3):213. Hum Mutat. 1998. PMID: 10651486

2

Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations. Mutations in brief no. 147. Online.

Trujillo MJ, Bueno J, Osorio A, Sanz R, Garcia-Sandoval B, Ramos C, Ayuso C. Trujillo MJ, et al. Among authors: sanz r. Hum Mutat. 1998;12(1):70. doi: 10.1002/(SICI)1098-1004(1998)12:1<70::AID-HUMU13>3.0.CO;2-G. Hum Mutat. 1998. PMID: 10627133

3

Identification of two rare variants (G-->A at nucleotide 721; C-->T at nucleotide 5200) in the rhodopsin gene. Mutations in brief no. 187. Online.

Trujillo MJ, Millán JM, Nájera C, Beneyto M, García-Sandoval B, Rodriguez de Alba M, Sanz R, Ayuso C. Trujillo MJ, et al. Among authors: sanz r. Hum Mutat. 1998;12(3):218. Hum Mutat. 1998. PMID: 10660337

4

Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation.

Lorda-Sanchez IJ, Ibañez AJ, Sanz RJ, Trujillo MJ, Anabitarte ME, Querejeta ME, Rodriguez de Alba M, Gimenez A, Infantes F, Ramos C, Garcia-Sandoval B, Ayuso C. Lorda-Sanchez IJ, et al. Among authors: sanz rj. Ophthalmic Genet. 2000 Sep;21(3):185-9. Ophthalmic Genet. 2000. PMID: 11035551

5

Ser186Pro mutation of RHO gene in a Spanish autosomal dominant retinitis pigmentosa (ADRP) family.

Trujillo MJ, Garcia-Sandoval B, Lorda-Sanchez I, Gimenez A, Sanz R, Rodriguez de Alba M, Gonzalez-Gonzalez MC, Ibañez A, Ramos C, Ayuso C. Trujillo MJ, et al. Among authors: sanz r. Ophthalmic Genet. 2000 Dec;21(4):251-6. Ophthalmic Genet. 2000. PMID: 11135497

6

New approach for the refinement of the location of the X-chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation.

García-Hoyos M, Sanz R, Diego-Alvarez D, Lorda-Sánchez I, Trujillo-Tiebas MJ, Cantalapiedra D, Ramos C, Ayuso C. García-Hoyos M, et al. Among authors: sanz r. Am J Med Genet A. 2005 Nov 1;138(4):365-8. doi: 10.1002/ajmg.a.30987. Am J Med Genet A. 2005. PMID: 16222660

7

Retinitis pigmentosa, mental retardation, marked short stature, and brachydactyly in two sibs.

Lorda-Sanchez I, Trujillo MJ, Gimenez A, Garcia-Sandoval B, Franco A, Sanz R, Rodriguez de Alba M, Ramos C, Ayuso C. Lorda-Sanchez I, et al. Among authors: sanz r. Ophthalmic Genet. 1999 Jun;20(2):127-31. doi: 10.1076/opge.20.2.127.2289. Ophthalmic Genet. 1999. PMID: 10420199

8

Prenatal diagnosis on fetal cells obtained from maternal peripheral blood: report of 66 cases.

Rodríguez De Alba M, Palomino P, Jurado A, Sanz R, Ibañez MA, Fernández-Moya JM, Ayuso C, Díaz-Recasens J, Lahoz C, Ramos C. Rodríguez De Alba M, et al. Among authors: sanz r. Prenat Diagn. 1999 Oct;19(10):934-40. doi: 10.1002/(sici)1097-0223(199910)19:10<934::aid-pd675>3.0.co;2-p. Prenat Diagn. 1999. PMID: 10521819 Clinical Trial.

9

Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation.

Rodríguez de Alba M, Sanz R, Lorda-Sanchez I, Fernández-Moya JM, Ayuso C, Díaz-Recasens J, Ramos C. Rodríguez de Alba M, et al. Among authors: sanz r. Prenat Diagn. 1999 Sep;19(9):884-6. doi: 10.1002/(sici)1097-0223(199909)19:9<884::aid-pd655>3.0.co;2-w. Prenat Diagn. 1999. PMID: 10521852

10

Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid.

Sanz R, Anabitarte MA, Querejeta ME, Lorda-Sanchez I, Ibañez MA, Rodríguez de Alba MR, Ayuso C, Ramos C. Sanz R, et al. Prenat Diagn. 2000 Jan;20(1):63-5. doi: 10.1002/(sici)1097-0223(200001)20:1<63::aid-pd741>3.0.co;2-w. Prenat Diagn. 2000. PMID: 10701855

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