Lorda-Sanchez I - Search Results

1

Impact of Next Generation Sequencing in Unraveling the Genetics of 1036 Spanish Families With Inherited Macular Dystrophies.

Del Pozo-Valero M, Riveiro-Alvarez R, Martin-Merida I, Blanco-Kelly F, Swafiri S, Lorda-Sanchez I, Trujillo-Tiebas MJ, Carreño E, Jimenez-Rolando B, Garcia-Sandoval B, Corton M, Avila-Fernandez A, Ayuso C. Del Pozo-Valero M, et al. Among authors: lorda sanchez i. Invest Ophthalmol Vis Sci. 2022 Feb 1;63(2):11. doi: 10.1167/iovs.63.2.11. Invest Ophthalmol Vis Sci. 2022. PMID: 35119454 Free PMC article.

2

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. Ophthalmic Genet. 1999 Jun;20(2):127-31. doi: 10.1076/opge.20.2.127.2289. Ophthalmic Genet. 1999. PMID: 10420199

3

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. 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

4

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

5

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. Ophthalmic Genet. 2000 Sep;21(3):185-9. Ophthalmic Genet. 2000. PMID: 11035551

6

A MELAS phenotype and a paternal inherited inversion of chromosome 10 in a female patient.

Lorda-Sanchez I, Garcia-Ruiz PJ, Rodriguez de Alba M, Montoya J, Playan A, Sarasa JL, Trujillo MJ, Sanz R, Ramos C, Ayuso C. Lorda-Sanchez I, et al. Genet Couns. 2000;11(3):261-5. Genet Couns. 2000. PMID: 11043434

7

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. Ophthalmic Genet. 2000 Dec;21(4):251-6. Ophthalmic Genet. 2000. PMID: 11135497

8

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. Genet Couns. 2001;12(1):95-100. Genet Couns. 2001. PMID: 11332984

9

Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma.

González-González MC, García-Hoyos M, Trujillo MJ, Rodríguez de Alba M, Lorda-Sánchez I, Díaz-Recasens J, Gallardo E, Ayuso C, Ramos C. González-González MC, et al. Prenat Diagn. 2002 Oct;22(10):946-8. doi: 10.1002/pd.439. Prenat Diagn. 2002. PMID: 12378583

10

Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR.

González-González MC, Trujillo MJ, Rodríguez de Alba M, García-Hoyos M, Lorda-Sánchez I, Díaz-Recasens J, Ayuso C, Ramos C. González-González MC, et al. Prenat Diagn. 2003 Mar;23(3):232-4. doi: 10.1002/pd.570. Prenat Diagn. 2003. PMID: 12627425

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