Lorda-Sanchez I - Search Results

1

Comparison of the diagnostic yield of aCGH and genome-wide sequencing across different neurodevelopmental disorders.

Martinez-Granero F, Blanco-Kelly F, Sanchez-Jimeno C, Avila-Fernandez A, Arteche A, Bustamante-Aragones A, Rodilla C, Rodríguez-Pinilla E, Riveiro-Alvarez R, Tahsin-Swafiri S, Trujillo-Tiebas MJ, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B. Martinez-Granero F, et al. NPJ Genom Med. 2021 Mar 25;6(1):25. doi: 10.1038/s41525-021-00188-7. NPJ Genom Med. 2021. PMID: 33767182 Free PMC article.

2

Increased parental age and number of pregnancies in Klippel-Trenaunay-Weber syndrome.

Lorda-Sanchez I, Prieto L, Rodriguez-Pinilla E, Martinez-Frias ML. Lorda-Sanchez I, et al. Ann Hum Genet. 1998 May;62(Pt 3):235-9. doi: 10.1046/j.1469-1809.1998.6230235.x. Ann Hum Genet. 1998. PMID: 9803268

3

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

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. 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

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

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

9

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

10

Prenatal diagnosis on fetal cells from maternal blood: practical comparative evaluation of the first and second trimesters.

Rodríguez de Alba M, Palomino P, González-González C, Lorda-Sanchez I, Ibañez MA, Sanz R, Fernández-Moya JM, Ayuso C, Díaz-Recasens J, Ramos C. Rodríguez de Alba M, et al. Prenat Diagn. 2001 Mar;21(3):165-70. doi: 10.1002/1097-0223(200103)21:3<165::aid-pd29>3.0.co;2-f. Prenat Diagn. 2001. PMID: 11260601

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