Oltra S - Search Results

1

Rare chromosomal complement of trisomy 21 in a boy conceived by IVF and cryopreservation.

Quiroga R, Roselló M, Martinez F, Ferrer-Bolufer I, Monfort S, Oltra S, Hernandez MC, Orellana C. Quiroga R, et al. Among authors: oltra s. Reprod Biomed Online. 2009 Sep;19(3):415-7. doi: 10.1016/s1472-6483(10)60177-0. Reprod Biomed Online. 2009. PMID: 19778489

2

Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.

Monfort S, Roselló M, Orellana C, Oltra S, Blesa D, Kok K, Ferrer I, Cigudosa JC, Martínez F. Monfort S, et al. Among authors: oltra s. J Med Genet. 2008 Jul;45(7):432-7. doi: 10.1136/jmg.2008.057596. Epub 2008 Apr 15. J Med Genet. 2008. PMID: 18413373

3

Submicroscopic duplication of the Wolf-Hirschhorn critical region with a 4p terminal deletion.

Roselló M, Monfort S, Orellana C, Ferrer-Bolufer I, Quiroga R, Oltra S, Martínez F. Roselló M, et al. Among authors: oltra s. Cytogenet Genome Res. 2009;125(2):103-8. doi: 10.1159/000227833. Epub 2009 Aug 31. Cytogenet Genome Res. 2009. PMID: 19729912

4

Corpus callosum abnormalities and the controversy about the candidate genes located in 1q44.

Orellana C, Roselló M, Monfort S, Oltra S, Quiroga R, Ferrer I, Martínez F. Orellana C, et al. Among authors: oltra s. Cytogenet Genome Res. 2009;127(1):5-8. doi: 10.1159/000279261. Epub 2010 Jan 27. Cytogenet Genome Res. 2009. PMID: 20110648

5

Partial duplication of 18q including a distal critical region for Edwards Syndrome in a patient with normal phenotype and oligoasthenospermia: case report.

Quiroga R, Monfort S, Oltra S, Ferrer-Bolufer I, Roselló M, Mayo S, Martinez F, Orellana C. Quiroga R, et al. Among authors: oltra s. Cytogenet Genome Res. 2011;133(1):78-83. doi: 10.1159/000322719. Epub 2011 Jan 13. Cytogenet Genome Res. 2011. PMID: 21228546

6

Mutation screening of AURKB and SYCP3 in patients with reproductive problems.

López-Carrasco A, Oltra S, Monfort S, Mayo S, Roselló M, Martínez F, Orellana C. López-Carrasco A, et al. Among authors: oltra s. Mol Hum Reprod. 2013 Feb;19(2):102-8. doi: 10.1093/molehr/gas047. Epub 2012 Oct 25. Mol Hum Reprod. 2013. PMID: 23100464

7

Epigenetic alterations in disseminated neuroblastoma tumour cells: influence of TMS1 gene hypermethylation in relapse risk in NB patients.

Grau E, Martinez F, Orellana C, Canete A, Yañez Y, Oltra S, Noguera R, Hernandez M, Bermúdez JD, Castel V. Grau E, et al. Among authors: oltra s. J Cancer Res Clin Oncol. 2010 Sep;136(9):1415-21. doi: 10.1007/s00432-010-0796-9. Epub 2010 Feb 7. J Cancer Res Clin Oncol. 2010. PMID: 20140741

8

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum.

Orellana C, Bernabeu J, Monfort S, Roselló M, Oltra S, Ferrer I, Quiroga R, Martínez-Garay I, Martínez F. Orellana C, et al. Among authors: oltra s. BMJ Case Rep. 2009;2009:bcr06.2009.1996. doi: 10.1136/bcr.06.2009.1996. Epub 2009 Jul 5. BMJ Case Rep. 2009. PMID: 21731584 Free PMC article.

9

De novo interstitial triplication of MECP2 in a girl with neurodevelopmental disorder and random X chromosome inactivation.

Mayo S, Monfort S, Roselló M, Orellana C, Oltra S, Armstrong J, Català V, Martínez F. Mayo S, et al. Among authors: oltra s. Cytogenet Genome Res. 2011;135(2):93-101. doi: 10.1159/000330917. Epub 2011 Sep 16. Cytogenet Genome Res. 2011. PMID: 21934280

10

Subtelomeric analysis of pediatric astrocytoma: subchromosomal instability is a distinctive feature of pleomorphic xanthoastrocytoma.

Grau E, Balaguer J, Canete A, Martinez F, Orellana C, Oltra S, Hernandez M, Castel V. Grau E, et al. Among authors: oltra s. J Neurooncol. 2009 Jun;93(2):175-82. doi: 10.1007/s11060-008-9763-6. Epub 2008 Dec 20. J Neurooncol. 2009. PMID: 19099200

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