Lorda-Sanchez I - Search Results

1

Non-Invasive Prenatal Diagnosis in the Management of Preimplantation Genetic Diagnosis Pregnancies.

Bustamante-Aragones A, Perlado-Marina S, Trujillo-Tiebas MJ, Gallego-Merlo J, Lorda-Sanchez I, Rodríguez-Ramirez L, Linares C, Hernandez C, de Alba MR. Bustamante-Aragones A, et al. J Clin Med. 2014 Aug 14;3(3):913-22. doi: 10.3390/jcm3030913. J Clin Med. 2014. PMID: 26237485 Free PMC article.

2

Turner phenotype in a girl with a 45,X/46,XX/47,XX,+18 mosaicism.

Lorda-Sanchez I, Trujillo MJ, Gomez-Garre P, de Alba MR, Gonzalez-Gonzalez C, García-Hoyos M, Ayuso C, Ramos C. Lorda-Sanchez I, et al. Am J Med Genet A. 2003 Aug 15;121A(1):20-4. doi: 10.1002/ajmg.a.10197. Am J Med Genet A. 2003. PMID: 12900896

3

Gene symbol: CFTR. Disease: Cystic fibrosis.

Trujillo-Tiebas MJ, Gallego J, García M, Lorda-Sanchez I, Ramos C, Ayuso C. Trujillo-Tiebas MJ, et al. Hum Genet. 2004 Mar;114(4):403. Hum Genet. 2004. PMID: 15046061 No abstract available.

4

Application of fetal DNA detection in maternal plasma: a prenatal diagnosis unit experience.

González-González C, Garcia-Hoyos M, Trujillo-Tiebas MJ, Lorda-Sanchez I, de Alba MR, Infantes F, Gallego J, Diaz-Recasens J, Ayuso C, Ramos C. González-González C, et al. J Histochem Cytochem. 2005 Mar;53(3):307-14. doi: 10.1369/jhc.4A6400.2005. J Histochem Cytochem. 2005. PMID: 15750008

5

Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH.

Lorda-Sánchez I, Diego-Alvarez D, Ayuso C, de Alba MR, Trujillo MJ, Ramos C. Lorda-Sánchez I, et al. Prenat Diagn. 2005 Oct;25(10):934-8. doi: 10.1002/pd.1239. Prenat Diagn. 2005. PMID: 16088866

6

Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

Riveiro-Alvarez R, Trujillo-Tiebas MJ, Gimenez-Pardo A, Garcia-Hoyos M, Cantalapiedra D, Lorda-Sanchez I, Rodriguez de Alba M, Ramos C, Ayuso C. Riveiro-Alvarez R, et al. Mol Vis. 2005 Sep 2;11:705-12. Mol Vis. 2005. PMID: 16163268 Free article.

7

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. 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

8

Double trisomy in spontaneous miscarriages: cytogenetic and molecular approach.

Diego-Alvarez D, Ramos-Corrales C, Garcia-Hoyos M, Bustamante-Aragones A, Cantalapiedra D, Diaz-Recasens J, Vallespin-Garcia E, Ayuso C, Lorda-Sanchez I. Diego-Alvarez D, et al. Hum Reprod. 2006 Apr;21(4):958-66. doi: 10.1093/humrep/dei406. Epub 2005 Dec 16. Hum Reprod. 2006. PMID: 16361293

9

Prenatal diagnosis of 46, XX male fetus.

Trujillo-Tiebas MJ, González-González C, Lorda-Sánchez I, Querejeta ME, Ayuso C, Ramos C. Trujillo-Tiebas MJ, et al. J Assist Reprod Genet. 2006 May;23(5):253-4. doi: 10.1007/s10815-005-9020-2. Epub 2006 May 25. J Assist Reprod Genet. 2006. PMID: 16724267 Free PMC article.

10

Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.

García-Hoyos M, Garcia-Sandoval B, Cantalapiedra D, Riveiro R, Lorda-Sánchez I, Trujillo-Tiebas MJ, Rodriguez de Alba M, Millan JM, Baiget M, Ramos C, Ayuso C. García-Hoyos M, et al. Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3777-82. doi: 10.1167/iovs.06-0323. Invest Ophthalmol Vis Sci. 2006. PMID: 16936086

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