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Items: 1 to 50 of 127

1.

The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy.

Thangarajh M, Elfring GL, Trifillis P, McIntosh J, Peltz SW; Ataluren Phase 2b Study Group.

Neurology. 2018 Sep 25;91(13):e1215-e1219. doi: 10.1212/WNL.0000000000006245. Epub 2018 Aug 22.

PMID:
30135256
2.

Fluticasone in mild to moderate atopic dermatitis relapse: A randomized controlled trial.

Rubio-Gomis E, Martinez-Mir I, Morales-Olivas FJ, Martorell-Aragones A, Palop-Larrea V, Bernalte-Sesé A, Cerda-Mir JC, Polo-Martín P, Febrer I, Aranda-Grau L, Llosa-Cortes I, Tejedor-Sanz MJ, Julia-Benito JC, Alvarez-de-Laviada-Mulero T, Planelles-Cantarino MV, Apolinar-Valiente E, Loriente-Tur M, Abella-Bazataqui AM, Alvarez-Gonzalez I, Morales-Carpi C, Burches-Greus ME, Ferrer-Bautista AB, Felix-Toledo R, Marmaneu-Laguia D, Garcia-Martinez VE, Beltran-Marques MA, Rodriguez-Gracia B.

Allergol Immunopathol (Madr). 2018 Jul - Aug;46(4):378-384. doi: 10.1016/j.aller.2017.12.001. Epub 2018 Jan 17.

PMID:
29373242
3.

Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability.

Rodríguez MA, Del Rio Barquero LM, Ortez CI, Jou C, Vigo M, Medina J, Febrer A, Ramon-Krauel M, Diaz-Manera J, Olive M, González-Mera L, Nascimento A, Jimenez-Mallebrera C.

Front Aging Neurosci. 2017 Aug 8;9:268. doi: 10.3389/fnagi.2017.00268. eCollection 2017.

4.

Adenylate cyclase A acting on PKA mediates induction of stalk formation by cyclic diguanylate at the Dictyostelium organizer.

Chen ZH, Singh R, Cole C, Lawal HM, Schilde C, Febrer M, Barton GJ, Schaap P.

Proc Natl Acad Sci U S A. 2017 Jan 17;114(3):516-521. doi: 10.1073/pnas.1608393114. Epub 2017 Jan 5.

5.

AlmostSignificant: simplifying quality control of high-throughput sequencing data.

Ward J, Cole C, Febrer M, Barton GJ.

Bioinformatics. 2016 Dec 15;32(24):3850-3851. Epub 2016 Aug 24.

6.
7.

The genomic and phenotypic diversity of Schizosaccharomyces pombe.

Jeffares DC, Rallis C, Rieux A, Speed D, Převorovský M, Mourier T, Marsellach FX, Iqbal Z, Lau W, Cheng TM, Pracana R, Mülleder M, Lawson JL, Chessel A, Bala S, Hellenthal G, O'Fallon B, Keane T, Simpson JT, Bischof L, Tomiczek B, Bitton DA, Sideri T, Codlin S, Hellberg JE, van Trigt L, Jeffery L, Li JJ, Atkinson S, Thodberg M, Febrer M, McLay K, Drou N, Brown W, Hayles J, Carazo Salas RE, Ralser M, Maniatis N, Balding DJ, Balloux F, Durbin R, Bähler J.

Nat Genet. 2015 Mar;47(3):235-41. doi: 10.1038/ng.3215. Epub 2015 Feb 9.

8.

Novel cyclic di-GMP effectors of the YajQ protein family control bacterial virulence.

An SQ, Caly DL, McCarthy Y, Murdoch SL, Ward J, Febrer M, Dow JM, Ryan RP.

PLoS Pathog. 2014 Oct 16;10(10):e1004429. doi: 10.1371/journal.ppat.1004429. eCollection 2014 Oct.

9.

Ataluren treatment of patients with nonsense mutation dystrophinopathy.

Bushby K, Finkel R, Wong B, Barohn R, Campbell C, Comi GP, Connolly AM, Day JW, Flanigan KM, Goemans N, Jones KJ, Mercuri E, Quinlivan R, Renfroe JB, Russman B, Ryan MM, Tulinius M, Voit T, Moore SA, Lee Sweeney H, Abresch RT, Coleman KL, Eagle M, Florence J, Gappmaier E, Glanzman AM, Henricson E, Barth J, Elfring GL, Reha A, Spiegel RJ, O'donnell MW, Peltz SW, Mcdonald CM; PTC124-GD-007-DMD STUDY GROUP.

Muscle Nerve. 2014 Oct;50(4):477-87. doi: 10.1002/mus.24332.

10.

A chromosome-based draft sequence of the hexaploid bread wheat (Triticum aestivum) genome.

International Wheat Genome Sequencing Consortium (IWGSC).

Science. 2014 Jul 18;345(6194):1251788. doi: 10.1126/science.1251788.

11.

Ancient hybridizations among the ancestral genomes of bread wheat.

Marcussen T, Sandve SR, Heier L, Spannagl M, Pfeifer M; International Wheat Genome Sequencing Consortium,, Jakobsen KS, Wulff BB, Steuernagel B, Mayer KF, Olsen OA.

Science. 2014 Jul 18;345(6194):1250092. doi: 10.1126/science.1250092.

12.

Genome interplay in the grain transcriptome of hexaploid bread wheat.

Pfeifer M, Kugler KG, Sandve SR, Zhan B, Rudi H, Hvidsten TR; International Wheat Genome Sequencing Consortium, Mayer KF, Olsen OA.

Science. 2014 Jul 18;345(6194):1250091. doi: 10.1126/science.1250091.

13.

The PAS domain-containing histidine kinase RpfS is a second sensor for the diffusible signal factor of Xanthomonas campestris.

An SQ, Allan JH, McCarthy Y, Febrer M, Dow JM, Ryan RP.

Mol Microbiol. 2014 May;92(3):586-97. doi: 10.1111/mmi.12577. Epub 2014 Apr 2.

14.

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients.

Mazzone E, De Sanctis R, Fanelli L, Bianco F, Main M, van den Hauwe M, Ash M, de Vries R, Fagoaga Mata J, Schaefer K, D'Amico A, Colia G, Palermo C, Scoto M, Mayhew A, Eagle M, Servais L, Vigo M, Febrer A, Korinthenberg R, Jeukens M, de Viesser M, Totoescu A, Voit T, Bushby K, Muntoni F, Goemans N, Bertini E, Pane M, Mercuri E.

Neuromuscul Disord. 2014 Apr;24(4):347-52. doi: 10.1016/j.nmd.2014.01.003. Epub 2014 Jan 16.

PMID:
24491485
15.

Microbiota and metabolite profiling reveal specific alterations in bacterial community structure and environment in the cystic fibrosis airway during exacerbation.

Twomey KB, Alston M, An SQ, O'Connell OJ, McCarthy Y, Swarbreck D, Febrer M, Dow JM, Plant BJ, Ryan RP.

PLoS One. 2013 Dec 17;8(12):e82432. doi: 10.1371/journal.pone.0082432. eCollection 2013.

16.

Severe refractory atopic dermatitis in an adolescent patient successfully treated with ustekinumab.

Agusti-Mejias A, Messeguer F, García R, Febrer I.

Ann Dermatol. 2013 Aug;25(3):368-70. doi: 10.5021/ad.2013.25.3.368. Epub 2013 Aug 13. No abstract available.

17.

[Fractures in spinal muscular atrophy].

Febrer A, Vigo M, Rodríguez N, Medina J, Colomer J, Nascimento A.

Rev Neurol. 2013 Sep 1;57(5):207-11. Spanish.

18.

A cyclic GMP-dependent signalling pathway regulates bacterial phytopathogenesis.

An SQ, Chin KH, Febrer M, McCarthy Y, Yang JG, Liu CL, Swarbreck D, Rogers J, Maxwell Dow J, Chou SH, Ryan RP.

EMBO J. 2013 Sep 11;32(18):2430-8. doi: 10.1038/emboj.2013.165. Epub 2013 Jul 23. Erratum in: EMBO J. 2013 Oct 16;32(20):2779-81.

19.

Six minute walk test in type III spinal muscular atrophy: a 12month longitudinal study.

Mazzone E, Bianco F, Main M, van den Hauwe M, Ash M, de Vries R, Fagoaga Mata J, Stein S, De Sanctis R, D'Amico A, Palermo C, Fanelli L, Scoto MC, Mayhew A, Eagle M, Vigo M, Febrer A, Korinthenberg R, de Visser M, Bushby K, Muntoni F, Goemans N, Sormani MP, Bertini E, Pane M, Mercuri E.

Neuromuscul Disord. 2013 Aug;23(8):624-8. doi: 10.1016/j.nmd.2013.06.001. Epub 2013 Jul 1.

PMID:
23809874
20.

[Giant pilomatrixoma: a benign tumour with a rare presentation].

de Unamuno B, Ballester R, Hernández P, Febrer I, Alegre V.

An Pediatr (Barc). 2014 Feb;80(2):e35-6. doi: 10.1016/j.anpedi.2013.04.025. Epub 2013 Jun 6. Spanish. No abstract available.

21.
22.

Congenital subungual and periungual melanocytic nevus.

Agusti-Mejias A, Messeguer F, Febrer I, Alegre V.

Actas Dermosifiliogr. 2013 Jun;104(5):446-8. doi: 10.1016/j.adengl.2013.04.011. Epub 2013 May 8. English, Spanish. No abstract available.

PMID:
23664223
23.

Pituitary dysfunction after traumatic brain injury in children: is there a need for ongoing endocrine assessment?

Casano-Sancho P, Suárez L, Ibáñez L, García-Fructuoso G, Medina J, Febrer A.

Clin Endocrinol (Oxf). 2013 Dec;79(6):853-8. doi: 10.1111/cen.12237. Epub 2013 Jun 27.

PMID:
23650946
24.

High-resolution transcriptional analysis of the regulatory influence of cell-to-cell signalling reveals novel genes that contribute to Xanthomonas phytopathogenesis.

An SQ, Febrer M, McCarthy Y, Tang DJ, Clissold L, Kaithakottil G, Swarbreck D, Tang JL, Rogers J, Dow JM, Ryan RP.

Mol Microbiol. 2013 Jun;88(6):1058-69. doi: 10.1111/mmi.12229. Epub 2013 Apr 26. Erratum in: Mol Microbiol. 2017 May;104(4):693-694.

25.

A physical, genetic and functional sequence assembly of the barley genome.

International Barley Genome Sequencing Consortium, Mayer KF, Waugh R, Brown JW, Schulman A, Langridge P, Platzer M, Fincher GB, Muehlbauer GJ, Sato K, Close TJ, Wise RP, Stein N.

Nature. 2012 Nov 29;491(7426):711-6. doi: 10.1038/nature11543. Epub 2012 Oct 17.

26.

Transient neonatal pustular melanosis.

Agusti-Mejias A, Messeguer F, Febrer I, Alegre V.

Actas Dermosifiliogr. 2013 Jan;104(1):84-5. doi: 10.1016/j.ad.2012.02.011. Epub 2012 Aug 11. English, Spanish. No abstract available.

PMID:
22884507
27.

Syphilitic alopecia: a report of 5 cases and a review of the literature.

Hernández-Bel P, Unamuno B, Sánchez-Carazo JL, Febrer I, Alegre V.

Actas Dermosifiliogr. 2013 Jul-Aug;104(6):512-7. doi: 10.1016/j.ad.2012.02.009. Epub 2012 Jun 30. Review. English, Spanish.

PMID:
22749730
28.

Comma hairs: a new dermoscopic marker for tinea capitis.

Hernández-Bel P, Malvehy J, Crocker A, Sánchez-Carazo JL, Febrer I, Alegre V.

Actas Dermosifiliogr. 2012 Nov;103(9):836-7. doi: 10.1016/j.ad.2011.12.016. Epub 2012 Jun 26. English, Spanish. No abstract available.

PMID:
22738852
29.

Hybrid repair of a hepatic artery aneurysm.

Yankovic W, Febrer G, Couture T, Mallios A, Koskas F.

Ann Vasc Surg. 2012 May;26(4):575.e1-3. doi: 10.1016/j.avsg.2011.08.024.

PMID:
22520395
30.

Central nervous system drug consumption depending on the time between symptom onset and the diagnosis of Alzheimer's disease: an analysis by the Registry of Dementias of Girona.

Calvó-Perxas L, López-Pousa S, Vilalta-Franch J, Turró-Garriga O, Blankenburg M, Febrer L, Flaqué M, Vallmajó N, Aguirregomozcorta M, Genís D, Casas I, Perkal H, Coromina J, Garre-Olmo J; Registry of Dementias of Girona Study Group.

Dement Geriatr Cogn Disord. 2012;33(2-3):104-10. doi: 10.1159/000337340. Epub 2012 Mar 31.

PMID:
22472600
31.

Cost effectiveness of prostacyclins in pulmonary arterial hypertension.

Roman A, Barberà JA, Escribano P, Sala ML, Febrer L, Oyagüez I, Sabater E, Casado MA.

Appl Health Econ Health Policy. 2012 May 1;10(3):175-88. doi: 10.2165/11630780-000000000-00000. Review.

PMID:
22452448
32.

Tissue-specific whole transcriptome sequencing in castor, directed at understanding triacylglycerol lipid biosynthetic pathways.

Brown AP, Kroon JT, Swarbreck D, Febrer M, Larson TR, Graham IA, Caccamo M, Slabas AR.

PLoS One. 2012;7(2):e30100. doi: 10.1371/journal.pone.0030100. Epub 2012 Feb 3.

33.

Combining SNP discovery from next-generation sequencing data with bulked segregant analysis (BSA) to fine-map genes in polyploid wheat.

Trick M, Adamski NM, Mugford SG, Jiang CC, Febrer M, Uauy C.

BMC Plant Biol. 2012 Jan 26;12:14. doi: 10.1186/1471-2229-12-14.

34.

[Comparison of patients from a Spanish Registry of Fabry disease in two periods].

Barba Romero MÁ, Rivera Gallego A, Pintos Morell G; Grupo Español de Estudio del FOS.

Med Clin (Barc). 2012 Oct 13;139(9):379-84. doi: 10.1016/j.medcli.2011.11.026. Epub 2012 Jan 21. Spanish.

PMID:
22266083
35.

Open repair of vertebral artery: a 7-year single-center report.

Ramirez CA, Febrer G, Gaudric J, Abou-Taam S, Beloucif K, Chiche L, Koskas F.

Ann Vasc Surg. 2012 Jan;26(1):79-85. doi: 10.1016/j.avsg.2011.09.001.

PMID:
22176877
36.

[Hammersmith functional rating scale for children with spinal muscular atrophy. Validation of the Spanish version].

Febrer A, Vigo M, Fagoaga J, Medina-Cantillo J, Rodríguez N, Tizzano E.

Rev Neurol. 2011 Dec 1;53(11):657-63. Spanish.

37.

Advances in bacterial transcriptome and transposon insertion-site profiling using second-generation sequencing.

Febrer M, McLay K, Caccamo M, Twomey KB, Ryan RP.

Trends Biotechnol. 2011 Nov;29(11):586-94. doi: 10.1016/j.tibtech.2011.06.004. Epub 2011 Jul 20. Review.

PMID:
21764162
38.

[Tinea corporis in a patient with black skin; the importance of the direct examination].

Agustí-Mejias A, Messeguer Badia F, Agustí Mejias P, Febrer I, Alegre-de Miquel V.

An Pediatr (Barc). 2011 Oct;75(4):290-2. doi: 10.1016/j.anpedi.2011.05.004. Epub 2011 Jul 12. Spanish. No abstract available.

39.

Fabry disease in Spain: description of Spanish patients and a comparison with other European countries using data from the Fabry Outcome Survey (FOS).

Barba-Romero MÁ, Rivera-Gallego A, Pintos-Morell G; Spanish FOS-Study Group.

Int J Clin Pract. 2011 Aug;65(8):903-10. doi: 10.1111/j.1742-1241.2011.02695.x. Epub 2011 Jun 16.

PMID:
21679285
40.

Painting the chromosomes of Brachypodium: current status and future prospects.

Idziak D, Betekhtin A, Wolny E, Lesniewska K, Wright J, Febrer M, Bevan MW, Jenkins G, Hasterok R.

Chromosoma. 2011 Oct;120(5):469-79. doi: 10.1007/s00412-011-0326-9. Epub 2011 Jun 11.

41.

Complete genome sequence of the proteolytic Clostridium botulinum type A5 (B3') strain H04402 065.

Carter AT, Pearson BM, Crossman LC, Drou N, Heavens D, Baker D, Febrer M, Caccamo M, Grant KA, Peck MW.

J Bacteriol. 2011 May;193(9):2351-2. doi: 10.1128/JB.00072-11. Epub 2011 Mar 4.

42.

[Design and validation of a questionnaire to measure treatment satisfaction in patients with moderate-to-severe psoriasis: the NEODERMA study].

Ribera M, Daudén E, Puig L, Briones VG, Herranz JM, Bordas X, Vanaclocha F; Grupo de Estudio NEODERMA.

Actas Dermosifiliogr. 2011 Jan;102(1):28-38. doi: 10.1016/j.ad.2010.03.028. Epub 2010 Dec 22. Spanish.

PMID:
21315859
43.

Indolent joint swelling of the metacarpal: atypical tuberculosis monarthritis.

Solà R, Espax RM, de Febrer G.

BMJ Case Rep. 2011 Aug 19;2011. pii: bcr0720114458. doi: 10.1136/bcr.07.2011.4458. No abstract available.

44.

An integrated physical, genetic and cytogenetic map of Brachypodium distachyon, a model system for grass research.

Febrer M, Goicoechea JL, Wright J, McKenzie N, Song X, Lin J, Collura K, Wissotski M, Yu Y, Ammiraju JS, Wolny E, Idziak D, Betekhtin A, Kudrna D, Hasterok R, Wing RA, Bevan MW.

PLoS One. 2010 Oct 18;5(10):e13461. doi: 10.1371/journal.pone.0013461.

45.

Economic evaluation of the levonorgestrel-releasing intrauterine system for the treatment of dysfunctional uterine bleeding in Spain.

Lete I, Cristóbal I, Febrer L, Crespo C, Arbat A, Hernández FJ, Brosa M.

Eur J Obstet Gynecol Reprod Biol. 2011 Jan;154(1):71-80. doi: 10.1016/j.ejogrb.2010.08.019. Epub 2010 Oct 15.

PMID:
20951492
46.

[Loose anagen hair syndrome. Diagnostic use of the trichogram].

Agusti-Mejias A, López-Davia J, García R, Febrer I, Alegre de Miquel V.

An Pediatr (Barc). 2010 Nov;73(5):293-5. doi: 10.1016/j.anpedi.2010.07.004. Spanish. No abstract available.

47.

Acute compartment syndrome following fibula flap harvest for mandibular reconstruction.

Kerrary S, Schouman T, Cox A, Bertolus C, Febrer G, Bertrand JC.

J Craniomaxillofac Surg. 2011 Apr;39(3):206-8. doi: 10.1016/j.jcms.2010.03.012. Epub 2010 May 14.

PMID:
20471850
48.

Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy.

Febrer A, Rodriguez N, Alias L, Tizzano E.

J Rehabil Med. 2010 Mar;42(3):228-31. doi: 10.2340/16501977-0507.

49.

The genetic location of the self-incompatibility locus in white clover (Trifolium repens L.).

Casey NM, Milbourne D, Barth S, Febrer M, Jenkins G, Abberton MT, Jones C, Thorogood D.

Theor Appl Genet. 2010 Aug;121(3):567-76. doi: 10.1007/s00122-010-1330-9. Epub 2010 Apr 10.

PMID:
20383486
50.

Genome sequencing and analysis of the model grass Brachypodium distachyon.

International Brachypodium Initiative.

Nature. 2010 Feb 11;463(7282):763-8. doi: 10.1038/nature08747.

PMID:
20148030

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