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Results: 1 to 20 of 53

1.

MicroRNA profile in very young women with breast cancer.

Peña-Chilet M, Martínez MT, Pérez-Fidalgo JA, Peiró-Chova L, Oltra SS, Tormo E, Alonso-Yuste E, Martinez-Delgado B, Eroles P, Climent J, Burgués O, Ferrer-Lozano J, Bosch A, Lluch A, Ribas G.

BMC Cancer. 2014 Jul 21;14:529. doi: 10.1186/1471-2407-14-529.

PMID:
25047087
[PubMed - in process]
Free Article
2.

Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.

Castillejo A, Vargas G, Castillejo MI, Navarro M, Barberá VM, González S, Hernández-Illán E, Brunet J, Ramón y Cajal T, Balmaña J, Oltra S, Iglesias S, Velasco A, Solanes A, Campos O, Sánchez Heras AB, Gallego J, Carrasco E, González Juan D, Segura A, Chirivella I, Juan MJ, Tena I, Lázaro C, Blanco I, Pineda M, Capellá G, Soto JL.

Eur J Cancer. 2014 Sep;50(13):2241-50. doi: 10.1016/j.ejca.2014.05.022. Epub 2014 Jun 18.

PMID:
24953332
[PubMed - in process]
3.

Phenotype profiling of patients with intellectual disability and copy number variations.

Roselló M, Martínez F, Monfort S, Mayo S, Oltra S, Orellana C.

Eur J Paediatr Neurol. 2014 Sep;18(5):558-66. doi: 10.1016/j.ejpn.2014.04.010. Epub 2014 Apr 18.

PMID:
24815074
[PubMed - in process]
4.

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.

Martínez F, Roselló M, Mayo S, Monfort S, Oltra S, Orellana C.

Am J Med Genet A. 2014 Apr;164A(4):918-23. doi: 10.1002/ajmg.a.36371. Epub 2014 Jan 23.

PMID:
24458433
[PubMed - in process]
5.

Modeling MC1R rare variants: a structural evaluation of variants detected in a Mediterranean case-control study.

Ibarrola-Villava M, Peña-Chilet M, Llorca-Cardeñosa MJ, Oltra S, Cadenas CM, Bravo J, Ribas G.

J Invest Dermatol. 2014 Apr;134(4):1146-9. doi: 10.1038/jid.2013.469. Epub 2013 Nov 11. No abstract available.

PMID:
24335900
[PubMed - indexed for MEDLINE]
6.

WT1 isoform expression pattern in acute myeloid leukemia.

Luna I, Such E, Cervera J, Barragán E, Ibañez M, Gómez-Seguí I, López-Pavía M, Llop M, Fuster O, Dolz S, Oltra S, Alonso C, Vera B, Lorenzo I, Martínez-Cuadrón D, Montesinos P, Senent ML, Moscardó F, Bolufer P, Sanz MA.

Leuk Res. 2013 Dec;37(12):1744-9. doi: 10.1016/j.leukres.2013.10.009. Epub 2013 Oct 22.

PMID:
24211094
[PubMed - indexed for MEDLINE]
7.

[Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence].

López-Carrasco A, Monfort S, Roselló M, Oltra S, Mayo S, Martínez F, Orellana C.

Med Clin (Barc). 2014 Jun 16;142(12):531-7. doi: 10.1016/j.medcli.2013.04.034. Epub 2013 Jun 20. Spanish.

PMID:
23790573
[PubMed - in process]
8.

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.

Mol Hum Reprod. 2013 Feb;19(2):102-8. doi: 10.1093/molehr/gas047. Epub 2012 Oct 25.

PMID:
23100464
[PubMed - indexed for MEDLINE]
Free Article
9.

Analysis of SNP rs16754 of WT1 gene in a series of de novo acute myeloid leukemia patients.

Luna I, Such E, Cervera J, Barragán E, Jiménez-Velasco A, Dolz S, Ibáñez M, Gómez-Seguí I, López-Pavía M, Llop M, Fuster Ó, Oltra S, Moscardó F, Martínez-Cuadrón D, Senent ML, Gascón A, Montesinos P, Martín G, Bolufer P, Sanz MA.

Ann Hematol. 2012 Dec;91(12):1845-53. doi: 10.1007/s00277-012-1596-x. Epub 2012 Oct 16.

PMID:
23070125
[PubMed - indexed for MEDLINE]
10.

Rapid screening of ASXL1, IDH1, IDH2, and c-CBL mutations in de novo acute myeloid leukemia by high-resolution melting.

Ibáñez M, Such E, Cervera J, Luna I, Gómez-Seguí I, López-Pavía M, Dolz S, Barragán E, Fuster O, Llop M, Rodríguez-Veiga R, Avaria A, Oltra S, Senent ML, Moscardó F, Montesinos P, Martínez-Cuadrón D, Martín G, Sanz MA.

J Mol Diagn. 2012 Nov;14(6):594-601. doi: 10.1016/j.jmoldx.2012.06.006. Epub 2012 Aug 25. Erratum in: J Mol Diagn. 2013 Mar;15(2):280.

PMID:
22929312
[PubMed - indexed for MEDLINE]
Free Article
11.

Recurrent testicular germ cell tumors in a family with MYH-associated polyposis.

Castillejo A, Sanchez-Heras AB, Jover R, Castillejo MI, Guarinos C, Oltra S, Martínez-Canto A, Barbera VM, Laforga J, Paya A, Alenda C, Soto JL.

J Clin Oncol. 2012 Aug 10;30(23):e216-7. doi: 10.1200/JCO.2012.41.5992. Epub 2012 Jun 18. No abstract available.

PMID:
22711856
[PubMed - indexed for MEDLINE]
Free Article
12.

Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males.

Casaña P, Mayo S, Monfort S, Orellana C, Haya S, Cid AR, Roselló M, Oltra S, Martínez F.

Br J Haematol. 2012 Jul;158(1):138-40. doi: 10.1111/j.1365-2141.2012.09092.x. Epub 2012 Mar 19. No abstract available.

PMID:
22429151
[PubMed - indexed for MEDLINE]
13.

Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features.

Mayo S, Garin I, Monfort S, Roselló M, Orellana C, Oltra S, Zazo C, de Naclares GP, Martínez F.

J Hum Genet. 2012 Feb;57(2):153-6. doi: 10.1038/jhg.2011.145. Epub 2012 Jan 5. No abstract available.

PMID:
22217647
[PubMed - indexed for MEDLINE]
14.

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.

Cytogenet Genome Res. 2011;135(2):93-101. doi: 10.1159/000330917. Epub 2011 Sep 16.

PMID:
21934280
[PubMed - indexed for MEDLINE]
15.

Minimal disease detection in peripheral blood and bone marrow from patients with non-metastatic neuroblastoma.

Yáñez Y, Grau E, Oltra S, Cañete A, Martínez F, Orellana C, Noguera R, Palanca S, Castel V.

J Cancer Res Clin Oncol. 2011 Aug;137(8):1263-72. doi: 10.1007/s00432-011-0997-x. Epub 2011 Jun 25.

PMID:
21706131
[PubMed - indexed for MEDLINE]
16.

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.

Oeffner F, Martinez F, Schaffer J, Salhi A, Monfort S, Oltra S, Neidel U, Bornholdt D, van Bon B, König A, Happle R, Grzeschik KH.

Exp Dermatol. 2011 May;20(5):447-9. doi: 10.1111/j.1600-0625.2010.01238.x. Epub 2011 Mar 22.

PMID:
21426410
[PubMed - indexed for MEDLINE]
17.

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.

Cytogenet Genome Res. 2011;133(1):78-83. doi: 10.1159/000322719. Epub 2011 Jan 13.

PMID:
21228546
[PubMed - indexed for MEDLINE]
18.

Hypermethylation of apoptotic genes as independent prognostic factor in neuroblastoma disease.

Grau E, Martinez F, Orellana C, Canete A, Yañez Y, Oltra S, Noguera R, Hernandez M, Bermúdez JD, Castel V.

Mol Carcinog. 2011 Mar;50(3):153-62. doi: 10.1002/mc.20700. Epub 2010 Nov 23.

PMID:
21104989
[PubMed - indexed for MEDLINE]
19.

Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies.

Martínez F, Monfort S, Roselló M, Oltra S, Blesa D, Quiroga R, Mayo S, Orellana C.

BMC Med Genomics. 2010 Nov 23;3:54. doi: 10.1186/1755-8794-3-54.

PMID:
21092253
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Aberrant methylation of tumor suppressor genes in patients with refractory anemia with ring sideroblasts.

Valencia A, Cervera J, Such E, Ibañez M, Gómez I, Luna I, Senent L, Oltra S, Sanz MA, Sanz GF.

Leuk Res. 2011 Apr;35(4):479-83. doi: 10.1016/j.leukres.2010.08.012. Epub 2010 Sep 22.

PMID:
20864173
[PubMed - indexed for MEDLINE]

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