Sanz R - Search Results

1

Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary anomalies.

Gallardo ME, Lopez-Rios J, Fernaud-Espinosa I, Granadino B, Sanz R, Ramos C, Ayuso C, Seller MJ, Brunner HG, Bovolenta P, Rodríguez de Córdoba S. Gallardo ME, et al. Among authors: sanz r. Genomics. 1999 Oct 1;61(1):82-91. doi: 10.1006/geno.1999.5916. Genomics. 1999. PMID: 10512683

2

Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene.

Granadino B, Gallardo ME, López-Ríos J, Sanz R, Ramos C, Ayuso C, Bovolenta P, Rodríguez de Córdoba S. Granadino B, et al. Among authors: sanz r. Genomics. 1999 Jan 1;55(1):100-5. doi: 10.1006/geno.1998.5611. Genomics. 1999. PMID: 9889003

3

Assignment of the calcium-binding mitochondrial carrier Aralar1 gene (SLC25A12) to human chromosome band 2q31 by in situ hybridization.

Sanz R, del Arco A, Ayuso C, Ramos C, Satrústegui J. Sanz R, et al. Cytogenet Cell Genet. 2000;89(3-4):143-4. doi: 10.1159/000015595. Cytogenet Cell Genet. 2000. PMID: 10965105 No abstract available.

4

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

5

The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.

Gallardo ME, Desviat LR, Rodríguez JM, Esparza-Gordillo J, Pérez-Cerdá C, Pérez B, Rodríguez-Pombo P, Criado O, Sanz R, Morton DH, Gibson KM, Le TP, Ribes A, de Córdoba SR, Ugarte M, Peñalva MA. Gallardo ME, et al. Among authors: sanz r. Am J Hum Genet. 2001 Feb;68(2):334-46. doi: 10.1086/318202. Epub 2001 Jan 17. Am J Hum Genet. 2001. PMID: 11170888 Free PMC article.

6

Cryptic 6q subtelomeric deletion associated with a paracentric inversion in a mildly retarded child.

Lorda-Sanchez I, Lopez-Pajares I, Roche MC, Sanz R, Rodriguez de Alba M, Gonzalez-Gonzalez MC, Ibañez A, Ramos C, Ayuso C. Lorda-Sanchez I, et al. Among authors: sanz r. Am J Med Genet. 2000 Dec 11;95(4):336-8. Am J Med Genet. 2000. PMID: 11186887

7

A maternal inherited translocation t(1;22)(q11;p11) in two infertile brothers.

Lorda-Sanchez I, Tejedor C, Sanz R, Rodriguez de Alba M, de la Fuente A, Fernandez E, Ayuso C, Ramos C. Lorda-Sanchez I, et al. Among authors: sanz r. Genet Couns. 2001;12(1):95-100. Genet Couns. 2001. PMID: 11332984

8

Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias.

Lorda-Sanchez I, Sanz R, Diaz-Guillen MA, Fernandez-Toral J, Heine-Suñer D, Rodriguez De Alba M, Gonzalez-Gonzalez C, Trujillo MJ, Ramos C, Rodriguez De Cordoba S, Ayuso C. Lorda-Sanchez I, et al. Among authors: sanz r. Genet Couns. 2002;13(2):171-7. Genet Couns. 2002. PMID: 12150218

9

Characterization of a 6p21 translocation breakpoint in a family with idiopathic generalized epilepsy.

Sáez-Hernández L, Peral B, Sanz R, Gómez-Garre P, Ramos C, Ayuso C, Serratosa JM. Sáez-Hernández L, et al. Among authors: sanz r. Epilepsy Res. 2003 Oct;56(2-3):155-63. doi: 10.1016/j.eplepsyres.2003.09.002. Epilepsy Res. 2003. PMID: 14643000

10

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

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