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Items: 1 to 20 of 23


European registration process for Clinical Laboratory Geneticists in genetic healthcare.

Liehr T, Carreira IM, Aktas D, Bakker E, Rodríguez de Alba M, Coviello DA, Florentin L, Scheffer H, Rincic M.

Eur J Hum Genet. 2017 May;25(5):515-519. doi: 10.1038/ejhg.2017.25. Epub 2017 Mar 8.


Fading competency of cytogenetic diagnostic laboratories: the alarm bell has started to ring.

Hochstenbach R, Slunga-Tallberg A, Devlin C, Floridia G, de Alba MR, Bhola S, Rack K, Hastings R.

Eur J Hum Genet. 2017 Feb;25(3):273-274. doi: 10.1038/ejhg.2016.177. Epub 2016 Dec 21. No abstract available.


Detection of major food allergens in amniotic fluid: initial allergenic encounter during pregnancy.

Pastor-Vargas C, Maroto AS, Díaz-Perales A, Villalba M, Esteban V, Ruiz-Ramos M, de Alba MR, Vivanco F, Cuesta-Herranz J.

Pediatr Allergy Immunol. 2016 Nov;27(7):716-720. doi: 10.1111/pai.12608. Epub 2016 Jul 29.


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.


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.


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.


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.


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.


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.


Broadening our understanding by the use of molecular cytogenetic techniques: full monosomy 21.

Martinez-Garcia M, Ainse E, García-Hoyos M, Bustamante A, Cardero R, Ramos-Corrales C, Trujillo-Tiebas MJ, de Alba MR, Lorda I.

J Assist Reprod Genet. 2011 Jul;28(7):621-6. doi: 10.1007/s10815-011-9569-x. Epub 2011 May 4. No abstract available.


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.


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.


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.


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.


MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages.

Diego-Alvarez D, Rodriguez de Alba M, Cardero-Merlo R, Diaz-Recasens J, Ayuso C, Ramos C, Lorda-Sanchez I.

Prenat Diagn. 2007 Aug;27(8):765-71.


Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion.

Martinez-Glez V, Lorda-Sanchez I, Ramirez JM, Ruiz-Barnes P, Rodriguez de Alba M, Diego-Alvarez D, Ramos C, Searby CC, Nishimura DY, Ayuso C.

Eur J Med Genet. 2007 Mar-Apr;50(2):120-7. Epub 2006 Oct 28.


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.


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.

Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3777-82.


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.

Mol Vis. 2005 Sep 2;11:705-12.


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.

Prenat Diagn. 2005 Oct;25(10):934-8.


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