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1,145 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. Hum Mutat. 1994;3(2):159-62. doi: 10.1002/humu.1380030212. Hum Mutat. 1994. PMID: 7911051 No abstract available.
Molecular genetic analysis of the APEX nuclease gene in amyotrophic lateral sclerosis.
Hayward C, Colville S, Swingler RJ, Brock DJ. Hayward C, et al. Neurology. 1999 Jun 10;52(9):1899-901. doi: 10.1212/wnl.52.9.1899. Neurology. 1999. PMID: 10371543
An exclusion map for pre-eclampsia: assuming autosomal recessive inheritance.
Hayward C, Livingstone J, Holloway S, Liston WA, Brock DJ. Hayward C, et al. Am J Hum Genet. 1992 Apr;50(4):749-57. Am J Hum Genet. 1992. PMID: 1550119 Free PMC article.
Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.
Brewer CM, Lam WW, Hayward C, Grace E, Maher ER, FitzPatrick DR. Brewer CM, et al. Among authors: hayward c. J Med Genet. 1998 Feb;35(2):162-4. doi: 10.1136/jmg.35.2.162. J Med Genet. 1998. PMID: 9507400 Free PMC article.
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. 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
Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.
Hayward C, Rae AL, Porteous ME, Logie LJ, Brock DJ. Hayward C, et al. Hum Mol Genet. 1994 Feb;3(2):373-5. doi: 10.1093/hmg/3.2.373. Hum Mol Genet. 1994. PMID: 8004112 No abstract available.
Fibrillin (FBN1) mutations in Marfan syndrome.
Hayward C, Keston M, Brock DJ, Dietz HC. Hayward C, et al. Hum Mutat. 1992;1(1):79. doi: 10.1002/humu.1380010115. Hum Mutat. 1992. PMID: 1301195 No abstract available.
A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly.
Hayward C, Porteous ME, Brock DJ. Hayward C, et al. Mol Cell Probes. 1994 Aug;8(4):325-7. doi: 10.1006/mcpr.1994.1045. Mol Cell Probes. 1994. PMID: 7870075
Fibrillin-1 mutations in Marfan syndrome and other type-1 fibrillinopathies.
Hayward C, Brock DJ. Hayward C, et al. 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.
Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene.
Collod-Béroud G, Béroud C, Adès L, Black C, Boxer M, Brock DJ, Godfrey M, Hayward C, Karttunen L, Milewicz D, Peltonen L, Richards RI, Wang M, Junien C, Boileau C. Collod-Béroud G, et al. Among authors: hayward c. Nucleic Acids Res. 1997 Jan 1;25(1):147-50. doi: 10.1093/nar/25.1.147. Nucleic Acids Res. 1997. PMID: 9016526 Free PMC article.
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