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Page 1
Characterization of splice variants of the genes encoding human mitochondrial HMG-CoA lyase and HMG-CoA synthase, the main enzymes of the ketogenesis pathway.
Puisac B, Ramos M, Arnedo M, Menao S, Gil-Rodríguez MC, Teresa-Rodrigo ME, Pié A, de Karam JC, Wesselink JJ, Giménez I, Ramos FJ, Casals N, Gómez-Puertas P, Hegardt FG, Pié J. Puisac B, et al. Among authors: wesselink jj. Mol Biol Rep. 2012 Apr;39(4):4777-85. doi: 10.1007/s11033-011-1270-8. Epub 2011 Sep 28. Mol Biol Rep. 2012. PMID: 21952825
De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.
Gil-Rodríguez MC, Deardorff MA, Ansari M, Tan CA, Parenti I, Baquero-Montoya C, Ousager LB, Puisac B, Hernández-Marcos M, Teresa-Rodrigo ME, Marcos-Alcalde I, Wesselink JJ, Lusa-Bernal S, Bijlsma EK, Braunholz D, Bueno-Martinez I, Clark D, Cooper NS, Curry CJ, Fisher R, Fryer A, Ganesh J, Gervasini C, Gillessen-Kaesbach G, Guo Y, Hakonarson H, Hopkin RJ, Kaur M, Keating BJ, Kibaek M, Kinning E, Kleefstra T, Kline AD, Kuchinskaya E, Larizza L, Li YR, Liu X, Mariani M, Picker JD, Pié Á, Pozojevic J, Queralt E, Richer J, Roeder E, Sinha A, Scott RH, So J, Wusik KA, Wilson L, Zhang J, Gómez-Puertas P, Casale CH, Ström L, Selicorni A, Ramos FJ, Jackson LG, Krantz ID, Das S, Hennekam RC, Kaiser FJ, FitzPatrick DR, Pié J. Gil-Rodríguez MC, et al. Among authors: wesselink jj. Hum Mutat. 2015 Apr;36(4):454-62. doi: 10.1002/humu.22761. Epub 2015 Mar 17. Hum Mutat. 2015. PMID: 25655089 Free article.
Genome sequence of OXA-48 carbapenemase-producing Klebsiella pneumoniae KpO3210.
Wesselink JJ, López-Camacho E, de la Peña S, Ramos-Ruiz R, Ruiz-Carrascoso G, Lusa-Bernal S, Fernández-Soria VM, Gómez-Gil R, Gomez-Puertas P, Mingorance J. Wesselink JJ, et al. J Bacteriol. 2012 Dec;194(24):6981. doi: 10.1128/JB.01897-12. J Bacteriol. 2012. PMID: 23209233 Free PMC article.
APPRIS: annotation of principal and alternative splice isoforms.
Rodriguez JM, Maietta P, Ezkurdia I, Pietrelli A, Wesselink JJ, Lopez G, Valencia A, Tress ML. Rodriguez JM, et al. Among authors: wesselink jj. Nucleic Acids Res. 2013 Jan;41(Database issue):D110-7. doi: 10.1093/nar/gks1058. Epub 2012 Nov 17. Nucleic Acids Res. 2013. PMID: 23161672 Free PMC article.
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.
Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P. Romanelli V, et al. Among authors: wesselink jj. Am J Med Genet A. 2010 Jun;152A(6):1390-7. doi: 10.1002/ajmg.a.33453. Am J Med Genet A. 2010. PMID: 20503313 Review.
Population structure of OXA-48-producing Klebsiella pneumoniae ST405 isolates during a hospital outbreak characterised by genomic typing.
López-Camacho E, Paño-Pardo JR, Ruiz-Carrascoso G, Wesselink JJ, Lusa-Bernal S, Ramos-Ruiz R, Ovalle S, Gómez-Gil R, Pérez-Blanco V, Pérez-Vázquez M, Gómez-Puertas P, Mingorance J. López-Camacho E, et al. Among authors: wesselink jj. J Glob Antimicrob Resist. 2018 Dec;15:48-54. doi: 10.1016/j.jgar.2018.06.008. Epub 2018 Jun 22. J Glob Antimicrob Resist. 2018. PMID: 29940334 Free article.
Determination and validation of principal gene products.
Tress ML, Wesselink JJ, Frankish A, López G, Goldman N, Löytynoja A, Massingham T, Pardi F, Whelan S, Harrow J, Valencia A. Tress ML, et al. Among authors: wesselink jj. Bioinformatics. 2008 Jan 1;24(1):11-7. doi: 10.1093/bioinformatics/btm547. Epub 2007 Nov 15. Bioinformatics. 2008. PMID: 18006548 Free PMC article.
The implications of alternative splicing in the ENCODE protein complement.
Tress ML, Martelli PL, Frankish A, Reeves GA, Wesselink JJ, Yeats C, Olason PI, Albrecht M, Hegyi H, Giorgetti A, Raimondo D, Lagarde J, Laskowski RA, López G, Sadowski MI, Watson JD, Fariselli P, Rossi I, Nagy A, Kai W, Størling Z, Orsini M, Assenov Y, Blankenburg H, Huthmacher C, Ramírez F, Schlicker A, Denoeud F, Jones P, Kerrien S, Orchard S, Antonarakis SE, Reymond A, Birney E, Brunak S, Casadio R, Guigo R, Harrow J, Hermjakob H, Jones DT, Lengauer T, Orengo CA, Patthy L, Thornton JM, Tramontano A, Valencia A. Tress ML, et al. Among authors: wesselink jj. Proc Natl Acad Sci U S A. 2007 Mar 27;104(13):5495-500. doi: 10.1073/pnas.0700800104. Epub 2007 Mar 19. Proc Natl Acad Sci U S A. 2007. PMID: 17372197 Free PMC article.
15 results