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Page 1
Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.
Campos-Xavier AB, Martinet D, Bateman J, Belluoccio D, Rowley L, Tan TY, Baxová A, Gustavson KH, Borochowitz ZU, Innes AM, Unger S, Beckmann JS, Mittaz L, Ballhausen D, Superti-Furga A, Savarirayan R, Bonafé L. Campos-Xavier AB, et al. Among authors: beckmann js. Am J Hum Genet. 2009 Jun;84(6):760-70. doi: 10.1016/j.ajhg.2009.05.002. Epub 2009 May 28. Am J Hum Genet. 2009. PMID: 19481194 Free PMC article.
Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients.
Martinet D, Filges I, Besuchet Schmutz N, Morris MA, Gaide AC, Dahoun S, Bottani A, Addor MC, Antonarakis SE, Beckmann JS, Béna F. Martinet D, et al. Among authors: beckmann js. Am J Med Genet A. 2008 Aug 15;146A(16):2094-102. doi: 10.1002/ajmg.a.32414. Am J Med Genet A. 2008. PMID: 18629875
The phenotype of recurrent 10q22q23 deletions and duplications.
van Bon BW, Balciuniene J, Fruhman G, Nagamani SC, Broome DL, Cameron E, Martinet D, Roulet E, Jacquemont S, Beckmann JS, Irons M, Potocki L, Lee B, Cheung SW, Patel A, Bellini M, Selicorni A, Ciccone R, Silengo M, Vetro A, Knoers NV, de Leeuw N, Pfundt R, Wolf B, Jira P, Aradhya S, Stankiewicz P, Brunner HG, Zuffardi O, Selleck SB, Lupski JR, de Vries BB. van Bon BW, et al. Among authors: beckmann js. Eur J Hum Genet. 2011 Apr;19(4):400-8. doi: 10.1038/ejhg.2010.211. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248748 Free PMC article.
Network-guided analysis of genes with altered somatic copy number and gene expression reveals pathways commonly perturbed in metastatic melanoma.
Valsesia A, Rimoldi D, Martinet D, Ibberson M, Benaglio P, Quadroni M, Waridel P, Gaillard M, Pidoux M, Rapin B, Rivolta C, Xenarios I, Simpson AJ, Antonarakis SE, Beckmann JS, Jongeneel CV, Iseli C, Stevenson BJ. Valsesia A, et al. Among authors: beckmann js. PLoS One. 2011 Apr 8;6(4):e18369. doi: 10.1371/journal.pone.0018369. PLoS One. 2011. PMID: 21494657 Free PMC article.
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.
Jacquemont S, Curie A, des Portes V, Torrioli MG, Berry-Kravis E, Hagerman RJ, Ramos FJ, Cornish K, He Y, Paulding C, Neri G, Chen F, Hadjikhani N, Martinet D, Meyer J, Beckmann JS, Delange K, Brun A, Bussy G, Gasparini F, Hilse T, Floesser A, Branson J, Bilbe G, Johns D, Gomez-Mancilla B. Jacquemont S, et al. Among authors: beckmann js. Sci Transl Med. 2011 Jan 5;3(64):64ra1. doi: 10.1126/scitranslmed.3001708. Sci Transl Med. 2011. PMID: 21209411 Clinical Trial.
In vitro whole-genome analysis identifies a susceptibility locus for HIV-1.
Loeuillet C, Deutsch S, Ciuffi A, Robyr D, Taffé P, Muñoz M, Beckmann JS, Antonarakis SE, Telenti A. Loeuillet C, et al. Among authors: beckmann js. PLoS Biol. 2008 Feb;6(2):e32. doi: 10.1371/journal.pbio.0060032. PLoS Biol. 2008. PMID: 18288889 Free PMC article.
409 results