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Exon skipping and translation in patients with frameshift deletions in the dystrophin gene.
Sherratt TG, Vulliamy T, Dubowitz V, Sewry CA, Strong PN. Sherratt TG, et al. Among authors: vulliamy t. Am J Hum Genet. 1993 Nov;53(5):1007-15. Am J Hum Genet. 1993. PMID: 8213828 Free PMC article.
Fine mapping of the dyskeratosis congenita locus in Xq28.
Knight SW, Vulliamy T, Forni GL, Oscier D, Mason PJ, Dokal I. Knight SW, et al. Among authors: vulliamy t. J Med Genet. 1996 Dec;33(12):993-5. doi: 10.1136/jmg.33.12.993. J Med Genet. 1996. PMID: 9004129 Free PMC article.
Evolutionary conservation of the dystrophin central rod domain.
Sherratt TG, Vulliamy T, Strong PN. Sherratt TG, et al. Among authors: vulliamy t. Biochem J. 1992 Nov 1;287 ( Pt 3)(Pt 3):755-9. doi: 10.1042/bj2870755. Biochem J. 1992. PMID: 1280104 Free PMC article.
The molecular basis of glucose-6-phosphate dehydrogenase deficiency.
Vulliamy T, Mason P, Luzzatto L. Vulliamy T, et al. Trends Genet. 1992 Apr;8(4):138-43. doi: 10.1016/0168-9525(92)90372-B. Trends Genet. 1992. PMID: 1631957 Review.
Independent origin of single and double mutations in the human glucose 6-phosphate dehydrogenase gene.
Vulliamy T, Rovira A, Yusoff N, Colomer D, Luzzatto L, Vives-Corrons JL. Vulliamy T, et al. Hum Mutat. 1996;8(4):311-8. doi: 10.1002/(SICI)1098-1004(1996)8:4<311::AID-HUMU3>3.0.CO;2-A. Hum Mutat. 1996. PMID: 8956035
In a study of G6PD deficient patients who presented with clinical favism in Spain, we have found a new polymorphic variant that we have called G6PD Malaga, whose only abnormality is a 542 A-->T (181 Asp-->Val) mutation. ...G6PD Santamaria might have been produced by …
In a study of G6PD deficient patients who presented with clinical favism in Spain, we have found a new polymorphic variant that we have call …
Variants of glucose-6-phosphate dehydrogenase are due to missense mutations spread throughout the coding region of the gene.
Vulliamy T, Beutler E, Luzzatto L. Vulliamy T, et al. Hum Mutat. 1993;2(3):159-67. doi: 10.1002/humu.1380020302. Hum Mutat. 1993. PMID: 8364584 Review.
A new genetic polymorphism in the 16S ribosomal RNA gene of human mitochondrial DNA.
Mehta AB, Vulliamy T, Gordon-Smith EC, Luzzatto L. Mehta AB, et al. Among authors: vulliamy t. Ann Hum Genet. 1989 Oct;53(4):303-10. doi: 10.1111/j.1469-1809.1989.tb01799.x. Ann Hum Genet. 1989. PMID: 2624428
Dyskeratosis congenita caused by a 3' deletion: germline and somatic mosaicism in a female carrier.
Vulliamy TJ, Knight SW, Heiss NS, Smith OP, Poustka A, Dokal I, Mason PJ. Vulliamy TJ, et al. Blood. 1999 Aug 15;94(4):1254-60. Blood. 1999. PMID: 10438713
Identification of novel DKC1 mutations in patients with dyskeratosis congenita: implications for pathophysiology and diagnosis.
Knight SW, Vulliamy TJ, Morgan B, Devriendt K, Mason PJ, Dokal I. Knight SW, et al. Among authors: vulliamy tj. Hum Genet. 2001 Apr;108(4):299-303. doi: 10.1007/s004390100494. Hum Genet. 2001. PMID: 11379875
X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
Knight SW, Heiss NS, Vulliamy TJ, Greschner S, Stavrides G, Pai GS, Lestringant G, Varma N, Mason PJ, Dokal I, Poustka A. Knight SW, et al. Among authors: vulliamy tj. Am J Hum Genet. 1999 Jul;65(1):50-8. doi: 10.1086/302446. Am J Hum Genet. 1999. PMID: 10364516 Free PMC article.
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