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Results: 1 to 20 of 138

1.

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 Apr 21. doi: 10.1002/ajmg.a.36999. [Epub ahead of print]

PMID:
25900314
2.

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 Apr 9. doi: 10.1002/ajmg.a.37046. [Epub ahead of print]

PMID:
25858326
3.

Postmenopausal hormone therapy and the risk of rheumatoid arthritis: results from the Swedish EIRA population-based case-control study.

Orellana C, Saevarsdottir S, Klareskog L, Karlson EW, Alfredsson L, Bengtsson C.

Eur J Epidemiol. 2015 Mar 12. [Epub ahead of print]

PMID:
25762170
4.

Infectious and immunologic phenotype of MECP2 duplication syndrome.

Bauer M, Kölsch U, Krüger R, Unterwalder N, Hameister K, Kaiser FM, Vignoli A, Rossi R, Botella MP, Budisteanu M, Rosello M, Orellana C, Tejada MI, Papuc SM, Patat O, Julia S, Touraine R, Gomes T, Wenner K, Xu X, Afenjar A, Toutain A, Philip N, Jezela-Stanek A, Gortner L, Martinez F, Echenne B, Wahn V, Meisel C, Wieczorek D, El-Chehadeh S, Van Esch H, von Bernuth H.

J Clin Immunol. 2015 Feb;35(2):168-81. doi: 10.1007/s10875-015-0129-5. Epub 2015 Feb 27.

PMID:
25721700
5.

Improved prediction of knee osteoarthritis progression by genetic polymorphisms: the Arthrotest Study.

Blanco FJ, Möller I, Romera M, Rozadilla A, Sánchez-Lázaro JA, Rodríguez A, Gálvez J, Forés J, Monfort J, Ojeda S, Moragues C, Caracuel MÁ, Clavaguera T, Valdés C, Soler JM, Orellana C, Belmonte MÁ, Martín F, Giménez S, Úcar E, Pous J, Bartolomé N, Artieda M, Szczypiorska M, Tejedor D, Martínez A, Montell E, Martínez H, Herrero M, Vergés J; the Arthrotest Study Group.

Rheumatology (Oxford). 2015 Jan 7. pii: keu478. [Epub ahead of print]

PMID:
25573839
6.

Malignant phyllodes tumor of the breast presenting with hypoglycemia: a case report and literature review.

Pacioles T, Seth R, Orellana C, John I, Panuganty V, Dhaliwal R.

Cancer Manag Res. 2014 Dec 8;6:467-73. doi: 10.2147/CMAR.S71933. eCollection 2014.

7.

High-antibody-producing Chinese hamster ovary cells up-regulate intracellular protein transport and glutathione synthesis.

Orellana CA, Marcellin E, Schulz BL, Nouwens AS, Gray PP, Nielsen LK.

J Proteome Res. 2015 Feb 6;14(2):609-18. doi: 10.1021/pr501027c. Epub 2015 Jan 14.

PMID:
25495469
8.

Comparative efficacy of intra-articular hyaluronic acid and corticoid injections in osteoarthritis of the first carpometacarpal joint: Results of a 6-month single-masked randomized study.

Monfort J, Rotés-Sala D, Segalés N, Montañes FJ, Orellana C, Llorente-Onaindia J, Mojal S, Padró I, Benito P.

Joint Bone Spine. 2015 Mar;82(2):116-21. doi: 10.1016/j.jbspin.2014.08.008. Epub 2014 Oct 11.

PMID:
25311256
9.

Human urinary mutagenicity after wood smoke exposure during traditional temazcal use.

Long AS, Lemieux CL, Yousefi P, Ruiz-Mercado I, Lam NL, Orellana CR, White PA, Smith KR, Holland N.

Mutagenesis. 2014 Sep;29(5):367-77. doi: 10.1093/mutage/geu025. Epub 2014 Aug 1.

10.

Improving short term instability for quantitative analyses with portable electronic noses.

Macías MM, Agudo JE, Manso AG, Orellana CJ, Velasco HM, Caballero RG.

Sensors (Basel). 2014 Jun 13;14(6):10514-26. doi: 10.3390/s140610514.

11.

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
12.

Occupational secondhand smoke is the main determinant of hair nicotine concentrations in bar and restaurant workers.

Iglesias V, Erazo M, Droppelmann A, Steenland K, Aceituno P, Orellana C, Acuña M, Peruga A, Breysse PN, Navas-Acien A.

Environ Res. 2014 Jul;132:206-11. doi: 10.1016/j.envres.2014.03.044. Epub 2014 May 8.

PMID:
24813578
13.

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
14.

Parity and the risk of developing rheumatoid arthritis: results from the Swedish Epidemiological Investigation of Rheumatoid Arthritis study.

Orellana C, Wedrén S, Källberg H, Holmqvist M, Karlson EW, Alfredsson L, Bengtsson C; EIRA Study Group.

Ann Rheum Dis. 2014 Apr;73(4):752-5. doi: 10.1136/annrheumdis-2013-203567. Epub 2013 Jul 25.

15.

[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
16.

Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.

Mullegama SV, Rosenfeld JA, Orellana C, van Bon BW, Halbach S, Repnikova EA, Brick L, Li C, Dupuis L, Rosello M, Aradhya S, Stavropoulos DJ, Manickam K, Mitchell E, Hodge JC, Talkowski ME, Gusella JF, Keller K, Zonana J, Schwartz S, Pyatt RE, Waggoner DJ, Shaffer LG, Lin AE, de Vries BB, Mendoza-Londono R, Elsea SH.

Eur J Hum Genet. 2014 Jan;22(1):57-63. doi: 10.1038/ejhg.2013.67. Epub 2013 May 1.

17.

Utility of Histoscanning™ prior to prostate biopsy for the diagnosis of prostate adenocarcinoma.

Núñez-Mora C, García-Mediero JM, Patiño P, Orellana C, Garrido A, Rojo A, Rendón D.

Actas Urol Esp. 2013 Jun;37(6):342-6. doi: 10.1016/j.acuro.2013.01.003. Epub 2013 Mar 16. English, Spanish.

PMID:
23507291
18.

Acetic acid detection threshold in synthetic wine samples of a portable electronic nose.

Macías MM, Manso AG, Orellana CJ, Velasco HM, Caballero RG, Chamizo JC.

Sensors (Basel). 2012 Dec 24;13(1):208-20. doi: 10.3390/s130100208.

19.

Structural elucidation of supramolecular alpha-cyclodextrin dimer/aliphatic monofunctional molecules complexes.

Barrientos L, Lang E, Zapata-Torres G, Celis-Barros C, Orellana C, Jara P, Yutronic N.

J Mol Model. 2013 May;19(5):2119-26. doi: 10.1007/s00894-012-1675-x. Epub 2012 Nov 30.

PMID:
23197322
20.

DiffSplice: the genome-wide detection of differential splicing events with RNA-seq.

Hu Y, Huang Y, Du Y, Orellana CF, Singh D, Johnson AR, Monroy A, Kuan PF, Hammond SM, Makowski L, Randell SH, Chiang DY, Hayes DN, Jones C, Liu Y, Prins JF, Liu J.

Nucleic Acids Res. 2013 Jan;41(2):e39. doi: 10.1093/nar/gks1026. Epub 2012 Nov 15.

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