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A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
Nat Genet. 2009 May;41(5):535-43. doi: 10.1038/ng.367. Epub 2009 Apr 19.
Nat Genet. 2009.
PMID: 19377476
Free PMC article.
Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
Tarpey PS, Raymond FL, Nguyen LS, Rodriguez J, Hackett A, Vandeleur L, Smith R, Shoubridge C, Edkins S, Stevens C, O'Meara S, Tofts C, Barthorpe S, Buck G, Cole J, Halliday K, Hills K, Jones D, Mironenko T, Perry J, Varian J, West S, Widaa S, Teague J, Dicks E, Butler A, Menzies A, Richardson D, Jenkinson A, Shepherd R, Raine K, Moon J, Luo Y, Parnau J, Bhat SS, Gardner A, Corbett M, Brooks D, Thomas P, Parkinson-Lawrence E, Porteous ME, Warner JP, Sanderson T, Pearson P, Simensen RJ, Skinner C, Hoganson G, Superneau D, Wooster R, Bobrow M, Turner G, Stevenson RE, Schwartz CE, Futreal PA, Srivastava AK, Stratton MR, Gécz J.
Tarpey PS, et al. Among authors: parnau j.
Nat Genet. 2007 Sep;39(9):1127-33. doi: 10.1038/ng2100. Epub 2007 Aug 19.
Nat Genet. 2007.
PMID: 17704778
Free PMC article.
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3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome.
Willatt L, Cox J, Barber J, Cabanas ED, Collins A, Donnai D, FitzPatrick DR, Maher E, Martin H, Parnau J, Pindar L, Ramsay J, Shaw-Smith C, Sistermans EA, Tettenborn M, Trump D, de Vries BB, Walker K, Raymond FL.
Willatt L, et al. Among authors: parnau j.
Am J Hum Genet. 2005 Jul;77(1):154-60. doi: 10.1086/431653. Epub 2005 May 25.
Am J Hum Genet. 2005.
PMID: 15918153
Free PMC article.
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Fiber type- and fatty acid composition-dependent effects of high-fat diets on rat muscle triacylglyceride and fatty acid transporter protein-1 content.
Marotta M, Ferrer-Martnez A, Parnau J, Turini M, Macé K, Gómez Foix AM.
Marotta M, et al. Among authors: parnau j.
Metabolism. 2004 Aug;53(8):1032-6. doi: 10.1016/j.metabol.2004.03.011.
Metabolism. 2004.
PMID: 15281014
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Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.
Tarpey P, Parnau J, Blow M, Woffendin H, Bignell G, Cox C, Cox J, Davies H, Edkins S, Holden S, Korny A, Mallya U, Moon J, O'Meara S, Parker A, Stephens P, Stevens C, Teague J, Donnelly A, Mangelsdorf M, Mulley J, Partington M, Turner G, Stevenson R, Schwartz C, Young I, Easton D, Bobrow M, Futreal PA, Stratton MR, Gecz J, Wooster R, Raymond FL.
Tarpey P, et al. Among authors: parnau j.
Am J Hum Genet. 2004 Aug;75(2):318-24. doi: 10.1086/422703. Epub 2004 Jun 7.
Am J Hum Genet. 2004.
PMID: 15185169
Free PMC article.
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