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Items: 1 to 50 of 110

1.

PROREPAIR-B: A Prospective Cohort Study of the Impact of Germline DNA Repair Mutations on the Outcomes of Patients With Metastatic Castration-Resistant Prostate Cancer.

Castro E, Romero-Laorden N, Del Pozo A, Lozano R, Medina A, Puente J, Piulats JM, Lorente D, Saez MI, Morales-Barrera R, Gonzalez-Billalabeitia E, Cendón Y, García-Carbonero I, Borrega P, Mendez Vidal MJ, Montesa A, Nombela P, Fernández-Parra E, Gonzalez Del Alba A, Villa-Guzmán JC, Ibáñez K, Rodriguez-Vida A, Magraner-Pardo L, Perez-Valderrama B, Vallespín E, Gallardo E, Vazquez S, Pritchard CC, Lapunzina P, Olmos D.

J Clin Oncol. 2019 Jan 9:JCO1800358. doi: 10.1200/JCO.18.00358. [Epub ahead of print]

PMID:
30625039
2.

Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X.

García M, Barreda-Bonis AC, Jiménez P, Rabanal I, Ortiz A, Vallespín E, Del Pozo Á, Martínez-San Millán J, González-Casado I, Moreno JC.

J Endocr Soc. 2018 Nov 23;3(1):119-128. doi: 10.1210/js.2018-00144. eCollection 2019 Jan 1.

3.

Somatic activating mutations in PIK3CA cause generalized lymphatic anomaly.

Rodriguez-Laguna L, Agra N, Ibañez K, Oliva-Molina G, Gordo G, Khurana N, Hominick D, Beato M, Colmenero I, Herranz G, Torres Canizalez JM, Rodríguez Pena R, Vallespín E, Martín-Arenas R, Del Pozo Á, Villaverde C, Bustamante A, Ayuso C, Lapunzina P, Lopez-Gutierrez JC, Dellinger MT, Martinez-Glez V.

J Exp Med. 2018 Dec 27. pii: jem.20181353. doi: 10.1084/jem.20181353. [Epub ahead of print]

PMID:
30591517
4.

Genome-Wide Identification and Transcriptional Regulation of Aquaporin Genes in Bread Wheat (Triticum aestivum L.) under Water Stress.

Madrid-Espinoza J, Brunel-Saldias N, Guerra FP, Gutiérrez A, Del Pozo A.

Genes (Basel). 2018 Oct 15;9(10). pii: E497. doi: 10.3390/genes9100497.

5.

Alcohol binge disrupts the rat intestinal barrier: the partial protective role of oleoylethanolamide.

Antón M, Rodríguez-González A, Ballesta A, González N, Del Pozo A, de Fonseca FR, Gómez-Lus ML, Leza JC, García-Bueno B, Caso JR, Orio L.

Br J Pharmacol. 2018 Dec;175(24):4464-4479. doi: 10.1111/bph.14501. Epub 2018 Oct 29.

PMID:
30248186
6.

The invasiveness of Hypochaeris glabra (Asteraceae): Responses in morphological and reproductive traits for exotic populations.

Martín-Forés I, Acosta-Gallo B, Castro I, de Miguel JM, Del Pozo A, Casado MA.

PLoS One. 2018 Jun 14;13(6):e0198849. doi: 10.1371/journal.pone.0198849. eCollection 2018.

7.

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature.

Sentchordi-Montané L, Aza-Carmona M, Benito-Sanz S, Barreda-Bonis AC, Sánchez-Garre C, Prieto-Matos P, Ruiz-Ocaña P, Lechuga-Sancho A, Carcavilla-Urquí A, Mulero-Collantes I, Martos-Moreno GA, Del Pozo A, Vallespín E, Offiah A, Parrón-Pajares M, Dinis I, Sousa SB, Ros-Pérez P, González-Casado I, Heath KE.

Clin Endocrinol (Oxf). 2018 Jun;88(6):820-829. doi: 10.1111/cen.13581. Epub 2018 Mar 24.

PMID:
29464738
8.

CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype.

Rodriguez-Laguna L, Ibañez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespín E, Fernández-Montaño VE, Martín-Arenas R, Del Pozo Á, González-Pecellín H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V.

Genet Med. 2018 Aug;20(8):882-889. doi: 10.1038/gim.2017.200. Epub 2018 Feb 15.

PMID:
29446767
9.

Editorial: Plant Phenotyping and Phenomics for Plant Breeding.

Lobos GA, Camargo AV, Del Pozo A, Araus JL, Ortiz R, Doonan JH.

Front Plant Sci. 2017 Dec 22;8:2181. doi: 10.3389/fpls.2017.02181. eCollection 2017. No abstract available.

10.

mTOR mutations in Smith-Kingsmore syndrome: Four additional patients and a review.

Gordo G, Tenorio J, Arias P, Santos-Simarro F, García-Miñaur S, Moreno JC, Nevado J, Vallespin E, Rodriguez-Laguna L, de Mena R, Dapia I, Palomares-Bralo M, Del Pozo Á, Ibañez K, Silla JC, Barroso E, Ruiz-Pérez VL, Martinez-Glez V, Lapunzina P.

Clin Genet. 2018 Apr;93(4):762-775. doi: 10.1111/cge.13135. Epub 2018 Feb 13.

11.

FGF9 mutation causes craniosynostosis along with multiple synostoses.

Rodriguez-Zabala M, Aza-Carmona M, Rivera-Pedroza CI, Belinchón A, Guerrero-Zapata I, Barraza-García J, Vallespin E, Lu M, Del Pozo A, Glucksman MJ, Santos-Simarro F, Heath KE.

Hum Mutat. 2017 Nov;38(11):1471-1476. doi: 10.1002/humu.23292. Epub 2017 Jul 25.

PMID:
28730625
12.

Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.

Palomares-Bralo M, Vallespín E, Del Pozo Á, Ibañez K, Silla JC, Galán E, Gordo G, Martínez-Glez V, Alba-Valdivia LI, Heath KE, García-Miñaúr S, Lapunzina P, Santos-Simarro F.

Genet Med. 2017 Nov;19(11):1285-1286. doi: 10.1038/gim.2017.42. Epub 2017 Apr 27. No abstract available.

PMID:
28640240
13.

Next generation sequencing in the diagnosis of Stargardt's disease.

Jimenez-Rolando B, Noval S, Rosa-Perez I, Mata Diaz E, Del Pozo A, Ibañez C, Silla JC, Montaño VEF, Martin-Arenas R, Vallespin E.

Arch Soc Esp Oftalmol. 2018 Mar;93(3):119-125. doi: 10.1016/j.oftal.2017.03.012. Epub 2017 May 29. English, Spanish.

PMID:
28571903
14.
15.

Developing Transdermal Applications of Ketorolac Tromethamine Entrapped in Stimuli Sensitive Block Copolymer Hydrogels.

Mallandrich M, Fernández-Campos F, Clares B, Halbaut L, Alonso C, Coderch L, Garduño-Ramírez ML, Andrade B, Del Pozo A, Lane ME, Calpena AC.

Pharm Res. 2017 Aug;34(8):1728-1740. doi: 10.1007/s11095-017-2181-8. Epub 2017 May 24.

PMID:
28540502
16.

Ecotypic differentiation and phenotypic plasticity combine to enhance the invasiveness of the most widespread daisy in Chile, Leontodon saxatilis.

Martín-Forés I, Avilés M, Acosta-Gallo B, Breed MF, Del Pozo A, de Miguel JM, Sánchez-Jardón L, Castro I, Ovalle C, Casado MA.

Sci Rep. 2017 May 8;7(1):1546. doi: 10.1038/s41598-017-01457-1.

17.

Assessing Wheat Traits by Spectral Reflectance: Do We Really Need to Focus on Predicted Trait-Values or Directly Identify the Elite Genotypes Group?

Garriga M, Romero-Bravo S, Estrada F, Escobar A, Matus IA, Del Pozo A, Astudillo CA, Lobos GA.

Front Plant Sci. 2017 Mar 9;8:280. doi: 10.3389/fpls.2017.00280. eCollection 2017.

18.

Sorption-desorption test for functional assessment of skin treated with a lipid system that mimics epidermal lamellar bodies.

Moner V, Fernández E, Del Pozo A, Rodríguez G, Cócera M, de la Maza A, López O.

Contact Dermatitis. 2017 Jul;77(1):25-34. doi: 10.1111/cod.12771. Epub 2017 Mar 16.

PMID:
28300294
19.

Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta.

Caparros-Martin JA, Aglan MS, Temtamy S, Otaify GA, Valencia M, Nevado J, Vallespin E, Del Pozo A, Prior de Castro C, Calatrava-Ferreras L, Gutierrez P, Bueno AM, Sagastizabal B, Guillen-Navarro E, Ballesta-Martinez M, Gonzalez V, Basaran SY, Buyukoglan R, Sarikepe B, Espinoza-Valdez C, Cammarata-Scalisi F, Martinez-Glez V, Heath KE, Lapunzina P, Ruiz-Perez VL.

Mol Genet Genomic Med. 2016 Dec 20;5(1):28-39. doi: 10.1002/mgg3.257. eCollection 2017 Jan.

20.

A new variant in PHKA2 is associated with glycogen storage disease type IXa.

Rodríguez-Jiménez C, Santos-Simarro F, Campos-Barros Á, Camarena C, Lledín D, Vallespín E, Del Pozo Á, Mena R, Lapunzina P, Rodríguez-Nóvoa S.

Mol Genet Metab Rep. 2017 Jan 12;10:52-55. doi: 10.1016/j.ymgmr.2017.01.003. eCollection 2017 Mar.

21.

Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.

Santos-Simarro F, Vallespin E, Del Pozo A, Ibañez K, Silla JC, Fernandez L, Nevado J, González-Pecellín H, Montaño VEF, Martin R, Alba Valdivia LI, García-Miñaúr S, Lapunzina P, Palomares-Bralo M.

Clin Genet. 2017 Sep;92(3):350-351. doi: 10.1111/cge.12965. Epub 2017 Mar 30. No abstract available.

PMID:
28074499
22.

Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia.

Barraza-García J, Rivera-Pedroza CI, Hisado-Oliva A, Belinchón-Martínez A, Sentchordi-Montané L, Duncan EL, Clark GR, Del Pozo A, Ibáñez-Garikano K, Offiah A, Prieto-Matos P, Cormier-Daire V, Heath KE.

Clin Genet. 2017 Jul;92(1):91-98. doi: 10.1111/cge.12964. Epub 2017 Feb 22.

23.

Daily Variation of UV-induced Erythema and the Action of Solar Filters.

Flo A, Calpena AC, Díez-Noguera A, Del Pozo A, Cambras T.

Photochem Photobiol. 2017 Mar;93(2):632-635. doi: 10.1111/php.12670. Epub 2017 Jan 5.

PMID:
28054350
24.

Ascertainment bias from imputation methods evaluation in wheat.

Brandariz SP, González Reymúndez A, Lado B, Malosetti M, Garcia AA, Quincke M, von Zitzewitz J, Castro M, Matus I, Del Pozo A, Castro AJ, Gutiérrez L.

BMC Genomics. 2016 Oct 4;17(1):773.

25.

An expanded evaluation of protein function prediction methods shows an improvement in accuracy.

Jiang Y, Oron TR, Clark WT, Bankapur AR, D'Andrea D, Lepore R, Funk CS, Kahanda I, Verspoor KM, Ben-Hur A, Koo da CE, Penfold-Brown D, Shasha D, Youngs N, Bonneau R, Lin A, Sahraeian SM, Martelli PL, Profiti G, Casadio R, Cao R, Zhong Z, Cheng J, Altenhoff A, Skunca N, Dessimoz C, Dogan T, Hakala K, Kaewphan S, Mehryary F, Salakoski T, Ginter F, Fang H, Smithers B, Oates M, Gough J, Törönen P, Koskinen P, Holm L, Chen CT, Hsu WL, Bryson K, Cozzetto D, Minneci F, Jones DT, Chapman S, Bkc D, Khan IK, Kihara D, Ofer D, Rappoport N, Stern A, Cibrian-Uhalte E, Denny P, Foulger RE, Hieta R, Legge D, Lovering RC, Magrane M, Melidoni AN, Mutowo-Meullenet P, Pichler K, Shypitsyna A, Li B, Zakeri P, ElShal S, Tranchevent LC, Das S, Dawson NL, Lee D, Lees JG, Sillitoe I, Bhat P, Nepusz T, Romero AE, Sasidharan R, Yang H, Paccanaro A, Gillis J, Sedeño-Cortés AE, Pavlidis P, Feng S, Cejuela JM, Goldberg T, Hamp T, Richter L, Salamov A, Gabaldon T, Marcet-Houben M, Supek F, Gong Q, Ning W, Zhou Y, Tian W, Falda M, Fontana P, Lavezzo E, Toppo S, Ferrari C, Giollo M, Piovesan D, Tosatto SC, Del Pozo A, Fernández JM, Maietta P, Valencia A, Tress ML, Benso A, Di Carlo S, Politano G, Savino A, Rehman HU, Re M, Mesiti M, Valentini G, Bargsten JW, van Dijk AD, Gemovic B, Glisic S, Perovic V, Veljkovic V, Veljkovic N, Almeida-E-Silva DC, Vencio RZ, Sharan M, Vogel J, Kansakar L, Zhang S, Vucetic S, Wang Z, Sternberg MJ, Wass MN, Huntley RP, Martin MJ, O'Donovan C, Robinson PN, Moreau Y, Tramontano A, Babbitt PC, Brenner SE, Linial M, Orengo CA, Rost B, Greene CS, Mooney SD, Friedberg I, Radivojac P.

Genome Biol. 2016 Sep 7;17(1):184. doi: 10.1186/s13059-016-1037-6.

26.

Physiological Traits Associated with Wheat Yield Potential and Performance under Water-Stress in a Mediterranean Environment.

Del Pozo A, Yáñez A, Matus IA, Tapia G, Castillo D, Sanchez-Jardón L, Araus JL.

Front Plant Sci. 2016 Jul 7;7:987. doi: 10.3389/fpls.2016.00987. eCollection 2016.

27.

SNP-Based QTL Mapping of 15 Complex Traits in Barley under Rain-Fed and Well-Watered Conditions by a Mixed Modeling Approach.

Mora F, Quitral YA, Matus I, Russell J, Waugh R, Del Pozo A.

Front Plant Sci. 2016 Jun 27;7:909. doi: 10.3389/fpls.2016.00909. eCollection 2016.

28.

Relaparoscopic approach for recurrence after laparoscopic incisional hernia repair - a video vignette.

Capitano S, Del Pozo AC, Bartolotta V, De Fusco M, Chiodi L, Boccoli G.

Colorectal Dis. 2016 Sep;18(9):919-20. doi: 10.1111/codi.13454. No abstract available.

PMID:
27401110
29.
30.

A gas-filled abdominal cyst in an elderly woman: A giant colonic diverticulum case report.

Del Pozo AC, Bartolotta V, Capitano S, Fusco MD, Chiodi L, Boccoli G.

Int J Surg Case Rep. 2016;24:104-7. doi: 10.1016/j.ijscr.2016.05.029. Epub 2016 May 25.

31.

Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.

Montané LS, Marín OR, Rivera-Pedroza CI, Vallespín E, Del Pozo Á, Heath KE.

Am J Med Genet A. 2016 Jun;170(6):1595-9. doi: 10.1002/ajmg.a.37619. Epub 2016 Mar 17.

PMID:
26991965
32.

The potential clinical impact of the release of two drafts of the human proteome.

Ezkurdia I, Calvo E, Del Pozo A, Vázquez J, Valencia A, Tress ML.

Expert Rev Proteomics. 2015;12(6):579-93. doi: 10.1586/14789450.2015.1103186. Epub 2015 Oct 23.

33.

Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations.

Barraza-García J, Iván Rivera-Pedroza C, Salamanca L, Belinchón A, López-González V, Sentchordi-Montané L, del Pozo Á, Santos-Simarro F, Campos-Barros Á, Lapunzina P, Guillén-Navarro E, González-Casado I, García-Miñaur S, Heath KE.

Am J Med Genet A. 2016 Jan;170A(1):210-6. doi: 10.1002/ajmg.a.37393. Epub 2015 Sep 16.

PMID:
26374189
34.

Alternatively Spliced Homologous Exons Have Ancient Origins and Are Highly Expressed at the Protein Level.

Abascal F, Ezkurdia I, Rodriguez-Rivas J, Rodriguez JM, del Pozo A, Vázquez J, Valencia A, Tress ML.

PLoS Comput Biol. 2015 Jun 10;11(6):e1004325. doi: 10.1371/journal.pcbi.1004325. eCollection 2015 Jun.

35.

Bimodal distribution of Trypanosoma cruzi antibody levels in blood donors from a highly endemic area of Argentina: what is the significance of low-reactive samples?

Remesar M, Sabino EC, Del Pozo A, Mayer A, Busch MP, Custer B.

Transfusion. 2015 Oct;55(10):2499-504. doi: 10.1111/trf.13180. Epub 2015 May 27.

PMID:
26014113
36.

A new overgrowth syndrome is due to mutations in RNF125.

Tenorio J, Mansilla A, Valencia M, Martínez-Glez V, Romanelli V, Arias P, Castrejón N, Poletta F, Guillén-Navarro E, Gordo G, Mansilla E, García-Santiago F, González-Casado I, Vallespín E, Palomares M, Mori MA, Santos-Simarro F, García-Miñaur S, Fernández L, Mena R, Benito-Sanz S, del Pozo Á, Silla JC, Ibañez K, López-Granados E, Martín-Trujillo A, Montaner D; SOGRI Consortium, Heath KE, Campos-Barros Á, Dopazo J, Nevado J, Monk D, Ruiz-Pérez VL, Lapunzina P.

Hum Mutat. 2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689.

PMID:
25196541
37.

wKinMut: an integrated tool for the analysis and interpretation of mutations in human protein kinases.

Izarzugaza JM, Vazquez M, del Pozo A, Valencia A.

BMC Bioinformatics. 2013 Nov 29;14:345. doi: 10.1186/1471-2105-14-345.

38.

Analysis of exposure to electromagnetic fields in a healthcare environment: simulation and experimental study.

de Miguel-Bilbao S, Martín MA, Del Pozo A, Febles V, Hernández JA, de Aldecoa JC, Ramos V.

Health Phys. 2013 Nov;105(5 Suppl 3):S209-22. doi: 10.1097/HP.0b013e31828e5c15.

PMID:
24077080
39.

Wheat genotypic variability in grain yield and carbon isotope discrimination under Mediterranean conditions assessed by spectral reflectance.

Lobos GA, Matus I, Rodriguez A, Romero-Bravo S, Araus JL, del Pozo A.

J Integr Plant Biol. 2014 May;56(5):470-9. doi: 10.1111/jipb.12114. Epub 2014 Feb 4.

PMID:
24118723
40.

Increased genomic prediction accuracy in wheat breeding through spatial adjustment of field trial data.

Lado B, Matus I, Rodríguez A, Inostroza L, Poland J, Belzile F, del Pozo A, Quincke M, Castro M, von Zitzewitz J.

G3 (Bethesda). 2013 Dec 9;3(12):2105-14. doi: 10.1534/g3.113.007807.

41.

Involvement of nitrogen and cytokinins in photosynthetic acclimation to elevated CO₂ of spring wheat.

Gutiérrez D, Morcuende R, Del Pozo A, Martínez-Carrasco R, Pérez P.

J Plant Physiol. 2013 Oct 15;170(15):1337-43. doi: 10.1016/j.jplph.2013.05.006. Epub 2013 Jun 7.

PMID:
23747059
42.

Hirsutellin A: A Paradigmatic Example of the Insecticidal Function of Fungal Ribotoxins.

Herrero-Galán E, García-Ortega L, Olombrada M, Lacadena J, Del Pozo ÁM, Gavilanes JG, Oñaderra M.

Insects. 2013 Jul 9;4(3):339-56. doi: 10.3390/insects4030339. Review.

43.

Daily rhythms of blood glucose differ in diurnal and nocturnal European sea bass (Dicentrarchus labrax L.) undergoing seasonal phase inversions.

del Pozo A, Vera LM, Montoya A, Sánchez-Vázquez FJ.

Fish Physiol Biochem. 2013 Jun;39(3):695-9. doi: 10.1007/s10695-012-9732-z. Epub 2012 Oct 9.

PMID:
23053614
44.

Molecular cloning, tissue distribution and daily expression of cry1 and cry2 clock genes in European seabass (Dicentrarchus labrax).

del Pozo A, Vera LM, Sánchez JA, Sánchez-Vázquez FJ.

Comp Biochem Physiol A Mol Integr Physiol. 2012 Nov;163(3-4):364-71. doi: 10.1016/j.cbpa.2012.07.004. Epub 2012 Jul 25.

PMID:
22841604
45.

Prioritization of pathogenic mutations in the protein kinase superfamily.

Izarzugaza JM, del Pozo A, Vazquez M, Valencia A.

BMC Genomics. 2012 Jun 18;13 Suppl 4:S3. doi: 10.1186/1471-2164-13-S4-S3.

46.

Pharmaceutical design of a new lactose-free coprocessed excipient: application of hydrochlorothiazide as a low solubility drug model.

Viscasillas Clerch A, Fernandez Campos F, Del Pozo A, Calpena Campmany AC.

Drug Dev Ind Pharm. 2013 Jul;39(7):961-9. doi: 10.3109/03639045.2012.686507. Epub 2012 May 21.

PMID:
22607083
47.

Chimeras taking shape: potential functions of proteins encoded by chimeric RNA transcripts.

Frenkel-Morgenstern M, Lacroix V, Ezkurdia I, Levin Y, Gabashvili A, Prilusky J, Del Pozo A, Tress M, Johnson R, Guigo R, Valencia A.

Genome Res. 2012 Jul;22(7):1231-42. doi: 10.1101/gr.130062.111. Epub 2012 May 15.

48.

Neuroprotective effects of human umbilical cord mesenchymal stromal cells in an immunocompetent animal model of Parkinson's disease.

Mathieu P, Roca V, Gamba C, Del Pozo A, Pitossi F.

J Neuroimmunol. 2012 May 15;246(1-2):43-50. doi: 10.1016/j.jneuroim.2012.03.004. Epub 2012 Mar 27.

PMID:
22458982
49.

Comparative proteomics reveals a significant bias toward alternative protein isoforms with conserved structure and function.

Ezkurdia I, del Pozo A, Frankish A, Rodriguez JM, Harrow J, Ashman K, Valencia A, Tress ML.

Mol Biol Evol. 2012 Sep;29(9):2265-83. doi: 10.1093/molbev/mss100. Epub 2012 Mar 22.

50.

Daily rhythms of clock gene expression, glycaemia and digestive physiology in diurnal/nocturnal European seabass.

del Pozo A, Montoya A, Vera LM, Sánchez-Vázquez FJ.

Physiol Behav. 2012 Jun 25;106(4):446-50. doi: 10.1016/j.physbeh.2012.03.006. Epub 2012 Mar 10.

PMID:
22429903

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