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Comparison of Primary Models to Predict Microbial Growth by the Plate Count and Absorbance Methods.

Pla ML, Oltra S, Esteban MD, Andreu S, Palop A.

Biomed Res Int. 2015;2015:365025. doi: 10.1155/2015/365025. Epub 2015 Oct 11.


TH and DCX mRNAs in peripheral blood and bone marrow predict outcome in metastatic neuroblastoma patients.

Yáñez Y, Hervás D, Grau E, Oltra S, Pérez G, Palanca S, Bermúdez M, Márquez C, Cañete A, Castel V.

J Cancer Res Clin Oncol. 2015 Oct 24. [Epub ahead of print]


Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder.

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

Genet Med. 2015 Aug;17(8):683-4. doi: 10.1038/gim.2015.86. No abstract available.


Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.

Martinez F, Marín-Reina P, Sanchis-Calvo A, Perez-Aytés A, Oltra S, Roselló M, Mayo S, Monfort S, Pantoja J, Orellana C.

Pediatr Res. 2015 Nov;78(5):533-9. doi: 10.1038/pr.2015.135. Epub 2015 Jul 22.


In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients.

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

Biomed Res Int. 2015;2015:341986. doi: 10.1155/2015/341986. Epub 2015 May 27.


[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

Ejarque I, Millán-Salvador JM, Oltra S, Pesudo-Martínez JV, Beneyto M, Pérez-Aytés A.

Rev Neurol. 2015 May 1;60(9):408-12. Spanish.


A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

Preiksaitiene E, Caro A, Benušienė E, Oltra S, Orellana C, Morkūnienė A, Roselló MP, Kasnauskiene J, Monfort S, Kučinskas V, Mayo S, Martinez F.

Am J Med Genet A. 2015 Jun;167(6):1342-8. doi: 10.1002/ajmg.a.36999. Epub 2015 Apr 21.


Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.

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

Am J Med Genet A. 2015 Jul;167(7):1614-20. doi: 10.1002/ajmg.a.37046. Epub 2015 Apr 9.


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.


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.


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.


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.


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.


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.


[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.


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.


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.


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.


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.


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.

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