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265 results
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Identification of a novel nonsense mutation in the fibrillin gene (FBN1) using nonisotopic techniques.
Hayward C, Porteous ME, Brock DJ. Hayward C, et al. Among authors: brock dj. Hum Mutat. 1994;3(2):159-62. doi: 10.1002/humu.1380030212. Hum Mutat. 1994. PMID: 7911051 No abstract available.
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
Hayward C, Porteous ME, Brock DJ. Hayward C, et al. Among authors: brock dj. Mol Cell Probes. 1994 Aug;8(4):325-7. doi: 10.1006/mcpr.1994.1045. Mol Cell Probes. 1994. PMID: 7870075
Fibrillin (FBN1) mutations in Marfan syndrome.
Hayward C, Keston M, Brock DJ, Dietz HC. Hayward C, et al. Among authors: brock dj. Hum Mutat. 1992;1(1):79. doi: 10.1002/humu.1380010115. Hum Mutat. 1992. PMID: 1301195 No abstract available.
Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene.
Kainulainen K, Steinmann B, Collins F, Dietz HC, Francomano CA, Child A, Kilpatrick MW, Brock DJ, Keston M, Pyeritz RE, et al. Kainulainen K, et al. Among authors: brock dj. Am J Hum Genet. 1991 Sep;49(3):662-7. Am J Hum Genet. 1991. PMID: 1882844 Free PMC article.
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
Hayward C, Brock DJ. Hayward C, et al. Among authors: brock dj. Hum Mutat. 1997;10(6):415-23. doi: 10.1002/(SICI)1098-1004(1997)10:6<415::AID-HUMU1>3.0.CO;2-C. Hum Mutat. 1997. PMID: 9401003 Review.
Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: report of 12 novel mutations.
Hayward C, Porteous ME, Brock DJ. Hayward C, et al. Among authors: brock dj. Hum Mutat. 1997;10(4):280-9. doi: 10.1002/(SICI)1098-1004(1997)10:4<280::AID-HUMU3>3.0.CO;2-L. Hum Mutat. 1997. PMID: 9338581
Cascade testing for the identification of carriers of cystic fibrosis.
Holloway S, Brock DJ. Holloway S, et al. Among authors: brock dj. J Med Screen. 1994 Jul;1(3):159-64. doi: 10.1177/096914139400100305. J Med Screen. 1994. PMID: 8790509
Mass screening for cystic fibrosis heterozygotes: two assay systems compared.
Gilfillan A, Axton R, Brock DJ. Gilfillan A, et al. Among authors: brock dj. Clin Chem. 1994 Feb;40(2):197-9. Clin Chem. 1994. PMID: 8313593
Prenatal exclusion testing for Huntington disease using the polymerase chain reaction.
McIntosh I, Curtis A, Millan FA, Brock DJ. McIntosh I, et al. Among authors: brock dj. Am J Med Genet. 1989 Feb;32(2):274-6. doi: 10.1002/ajmg.1320320232. Am J Med Genet. 1989. PMID: 2564738
A general method for the detection of large CAG repeat expansions by fluorescent PCR.
Warner JP, Barron LH, Goudie D, Kelly K, Dow D, Fitzpatrick DR, Brock DJ. Warner JP, et al. Among authors: brock dj. J Med Genet. 1996 Dec;33(12):1022-6. doi: 10.1136/jmg.33.12.1022. J Med Genet. 1996. PMID: 9004136 Free PMC article.
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