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Items: 13

1.

Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin.

Perlado S, Bustamante-Aragonés A, Donas M, Lorda-Sánchez I, Plaza J, Rodríguez de Alba M.

PLoS One. 2016 Apr 14;11(4):e0153258. doi: 10.1371/journal.pone.0153258. eCollection 2016.

2.

Two interstitial rearrangements (16q deletion and 17p duplication) in a child with MR/MCA.

Sanchez-Jimeno C, Bustamante-Aragonés A, Infantes-Barbero F, Rodriguez De Alba M, Ramos C, Trujillo-Tiebas MJ, Lorda-Sánchez I.

Clin Case Rep. 2014 Dec;2(6):303-9. doi: 10.1002/ccr3.117. Epub 2014 Sep 15.

3.

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.

J Clin Med. 2014 Aug 14;3(3):913-22. doi: 10.3390/jcm3030913.

4.

Overview of Five-Years of Experience Performing Non-Invasive Fetal Sex Assessment in Maternal Blood.

Perlado-Marina S, Bustamante-Aragones A, Horcajada L, Trujillo-Tiebas MJ, Lorda-Sanchez I, Ruiz Ramos M, Plaza J, Rodriguez de Alba M.

Diagnostics (Basel). 2013 May 15;3(2):283-90. doi: 10.3390/diagnostics3020283.

5.

Non-invasive prenatal diagnosis of single-gene disorders from maternal blood.

Bustamante-Aragonés A, Rodríguez de Alba M, Perlado S, Trujillo-Tiebas MJ, Arranz JP, Díaz-Recasens J, Troyano-Luque J, Ramos C.

Gene. 2012 Aug 1;504(1):144-9. doi: 10.1016/j.gene.2012.04.045. Epub 2012 Apr 25.

PMID:
22561692
6.

Noninvasive prenatal diagnosis of monogenic disorders.

Rodríguez de Alba M, Bustamante-Aragonés A, Perlado S, Trujillo-Tiebas MJ, Díaz-Recasens J, Plaza-Arranz J, Ramos C.

Expert Opin Biol Ther. 2012 Jun;12 Suppl 1:S171-9. doi: 10.1517/14712598.2012.674509. Epub 2012 Apr 16. Review.

PMID:
22507053
7.

[Oculodentodigital dysplasia: genetic counselling, reproductive expectatives and molecular assay of a clinical case referred to preimplantational diagnosis].

Martínez-García M, Bustamante-Aragonés A, Lorda I, Trujillo-Tiebas MJ.

Med Clin (Barc). 2012 May 12;138(13):592-3. doi: 10.1016/j.medcli.2011.09.006. Epub 2011 Oct 22. Spanish. No abstract available.

PMID:
22024562
8.

Noninvasive prenatal diagnosis using ccffDNA in maternal blood: state of the art.

Bustamante-Aragones A, Gonzalez-Gonzalez C, de Alba MR, Ainse E, Ramos C.

Expert Rev Mol Diagn. 2010 Mar;10(2):197-205. doi: 10.1586/erm.09.86. Review.

PMID:
20214538
9.

Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis.

Bustamante-Aragones A, Vallespin E, Rodriguez de Alba M, Trujillo-Tiebas MJ, Gonzalez-Gonzalez C, Diego-Alvarez D, Riveiro-Alvarez R, Lorda-Sanchez I, Ayuso C, Ramos C.

Mol Vis. 2008 Aug 4;14:1388-94.

10.

Prenatal diagnosis in maternal plasma of a fetal mutation causing propionic acidemia.

Bustamante-Aragones A, Pérez-Cerdá C, Pérez B, de Alba MR, Ugarte M, Ramos C.

Mol Genet Metab. 2008 Sep-Oct;95(1-2):101-3. doi: 10.1016/j.ymgme.2008.05.006. Epub 2008 Jul 2.

PMID:
18599334
11.

New strategy for the prenatal detection/exclusion of paternal cystic fibrosis mutations in maternal plasma.

Bustamante-Aragones A, Gallego-Merlo J, Trujillo-Tiebas MJ, de Alba MR, Gonzalez-Gonzalez C, Glover G, Diego-Alvarez D, Ayuso C, Ramos C.

J Cyst Fibros. 2008 Nov;7(6):505-10. doi: 10.1016/j.jcf.2008.05.006. Epub 2008 Jun 24.

12.

Detection of a paternally inherited fetal mutation in maternal plasma by the use of automated sequencing.

Bustamante-Aragones A, Garcia-Hoyos M, Rodriguez DE Alba M, Gonzalez-Gonzalez C, Lorda-Sanchez I, Diego-Alvarez D, Trujillo-Tiebas MJ, Ayuso C, Ramos C.

Ann N Y Acad Sci. 2006 Sep;1075:108-17.

PMID:
17108199
13.

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.

Hum Reprod. 2006 Apr;21(4):958-66. Epub 2005 Dec 16.

PMID:
16361293

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