Lorda-Sanchez I - Search Results

1

NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.

Perea-Romero I, Blanco-Kelly F, Sanchez-Navarro I, Lorda-Sanchez I, Tahsin-Swafiri S, Avila-Fernandez A, Martin-Merida I, Trujillo-Tiebas MJ, Lopez-Rodriguez R, Rodriguez de Alba M, Iancu IF, Romero R, Quinodoz M, Hakonarson H, Garcia-Sandova B, Minguez P, Corton M, Rivolta C, Ayuso C. Perea-Romero I, et al. Hum Genet. 2021 Dec;140(12):1665-1678. doi: 10.1007/s00439-021-02343-7. Epub 2021 Aug 26. Hum Genet. 2021. PMID: 34448047 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

Situs inversus and hirschsprung disease: two uncommon manifestations in Bardet-Biedl syndrome.

Lorda-Sanchez I, Ayuso C, Ibañez A. Lorda-Sanchez I, et al. Am J Med Genet. 2000 Jan 3;90(1):80-1. doi: 10.1002/(sici)1096-8628(20000103)90:1<80::aid-ajmg14>3.0.co;2-e. Am J Med Genet. 2000. PMID: 10602122 No abstract available.

5

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

6

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

7

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

8

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

9

Chromosomal mosaicism for isochromosome 11q confined to CVS direct preparations.

Sanz R, Lorda-Sanchez I, Fernández-Moya JM, Cifuentes-Sulzberger S, Rodríguez de Alba M, Gonzalez-Gonzalez MC, Ibañez MA, Robledo M, Ayuso C, Ramos C. Sanz R, et al. Fetal Diagn Ther. 2001 Mar-Apr;16(2):95-7. doi: 10.1159/000053888. Fetal Diagn Ther. 2001. PMID: 11173955

10

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. Am J Med Genet. 2000 Dec 11;95(4):336-8. Am J Med Genet. 2000. PMID: 11186887

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