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Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
van Kuilenburg AB, Meijer J, Mul AN, Hennekam RC, Hoovers JM, de Die-Smulders CE, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Vijzelaar R, Nicolai J, Ylstra B, Rubio-Gozalbo ME. van Kuilenburg AB, et al. Among authors: fowler b. Hum Genet. 2009 Jun;125(5-6):581-90. doi: 10.1007/s00439-009-0653-6. Epub 2009 Mar 19. Hum Genet. 2009. PMID: 19296131 Free article.
Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.
van Kuilenburg AB, Meijer J, Gökcay G, Baykal T, Rubio-Gozalbo ME, Mul AN, de Die-Smulders CE, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Roelofsen J, Vijzelaar R, Nicolai J, Hennekam RC. van Kuilenburg AB, et al. Among authors: fowler b. Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):509-14. doi: 10.1080/15257771003730227. Nucleosides Nucleotides Nucleic Acids. 2010. PMID: 20544545
Isolated 3-methylcrotonyl-CoA carboxylase deficiency: evidence for an allele-specific dominant negative effect and responsiveness to biotin therapy.
Baumgartner MR, Dantas MF, Suormala T, Almashanu S, Giunta C, Friebel D, Gebhardt B, Fowler B, Hoffmann GF, Baumgartner ER, Valle D. Baumgartner MR, et al. Among authors: fowler b. Am J Hum Genet. 2004 Nov;75(5):790-800. doi: 10.1086/425181. Epub 2004 Sep 9. Am J Hum Genet. 2004. PMID: 15359379 Free PMC article.
Prenatal and postnatal treatment in cobalamin C defect.
Huemer M, Simma B, Fowler B, Suormala T, Bodamer OA, Sass JO. Huemer M, et al. Among authors: fowler b. J Pediatr. 2005 Oct;147(4):469-72. doi: 10.1016/j.jpeds.2005.04.040. J Pediatr. 2005. PMID: 16227032
Defects in human methionine synthase in cblG patients.
Gulati S, Baker P, Li YN, Fowler B, Kruger W, Brody LC, Banerjee R. Gulati S, et al. Among authors: fowler b. Hum Mol Genet. 1996 Dec;5(12):1859-65. doi: 10.1093/hmg/5.12.1859. Hum Mol Genet. 1996. PMID: 8968736
718 results