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265 results
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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
A novel stable polyalanine [poly(A)] expansion in the HOXA13 gene associated with hand-foot-genital syndrome: proper function of poly(A)-harbouring transcription factors depends on a critical repeat length?
Utsch B, Becker K, Brock D, Lentze MJ, Bidlingmaier F, Ludwig M. Utsch B, et al. Hum Genet. 2002 May;110(5):488-94. doi: 10.1007/s00439-002-0712-8. Epub 2002 Apr 4. Hum Genet. 2002. PMID: 12073020 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: brock dj. 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.
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.
Marfan Database (third edition): new mutations and new routines for the software.
Collod-Béroud G, Béroud C, Ades L, Black C, Boxer M, Brock DJ, Holman KJ, de Paepe A, Francke U, Grau U, Hayward C, Klein HG, Liu W, Nuytinck L, Peltonen L, Alvarez Perez AB, Rantamäki T, Junien C, Boileau C. Collod-Béroud G, et al. Among authors: brock dj. Nucleic Acids Res. 1998 Jan 1;26(1):229-3. doi: 10.1093/nar/26.1.229. Nucleic Acids Res. 1998. PMID: 9399842 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.
Evidence for a familial pregnancy-induced hypertension locus in the eNOS-gene region.
Arngrímsson R, Hayward C, Nadaud S, Baldursdóttir A, Walker JJ, Liston WA, Bjarnadóttir RI, Brock DJ, Geirsson RT, Connor JM, Soubrier F. Arngrímsson R, et al. Among authors: brock dj. Am J Hum Genet. 1997 Aug;61(2):354-62. doi: 10.1086/514843. Am J Hum Genet. 1997. PMID: 9311740 Free PMC article.
Carrier screening for cystic fibrosis.
Brock DJ. Brock DJ. Prenat Diagn. 1994 Dec;14(13):1243-52. doi: 10.1002/pd.1970141309. Prenat Diagn. 1994. PMID: 7617570 Review.
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