Brook JD - Search Results

1

Loss of heterozygosity in bilateral breast cancer.

Kollias J, Man S, Marafie M, Carpenter K, Pinder S, Ellis IO, Blamey RW, Cross G, Brook JD. Kollias J, et al. Among authors: brook jd. Breast Cancer Res Treat. 2000 Dec;64(3):241-51. doi: 10.1023/a:1026575619155. Breast Cancer Res Treat. 2000. PMID: 11200774

2

High levels of allele loss at the FHIT and ATM genes in non-comedo ductal carcinoma in situ and grade I tubular invasive breast cancers.

Man S, Ellis IO, Sibbering M, Blamey RW, Brook JD. Man S, et al. Among authors: brook jd. Cancer Res. 1996 Dec 1;56(23):5484-9. Cancer Res. 1996. PMID: 8968105

3

Holt-Oram syndrome is a genetically heterogeneous disease with one locus mapping to human chromosome 12q.

Terrett JA, Newbury-Ecob R, Cross GS, Fenton I, Raeburn JA, Young ID, Brook JD. Terrett JA, et al. Among authors: brook jd. Nat Genet. 1994 Apr;6(4):401-4. doi: 10.1038/ng0494-401. Nat Genet. 1994. PMID: 8054982

4

Combined mutation screening of NKX2-5, GATA4, and TBX5 in congenital heart disease: multiple heterozygosity and novel mutations.

Granados-Riveron JT, Pope M, Bu'lock FA, Thornborough C, Eason J, Setchfield K, Ketley A, Kirk EP, Fatkin D, Feneley MP, Harvey RP, Brook JD. Granados-Riveron JT, et al. Among authors: brook jd. Congenit Heart Dis. 2012 Mar-Apr;7(2):151-9. doi: 10.1111/j.1747-0803.2011.00573.x. Epub 2011 Oct 20. Congenit Heart Dis. 2012. PMID: 22011241 Free PMC article.

5

Flies deficient in Muscleblind protein model features of myotonic dystrophy with altered splice forms of Z-band associated transcripts.

Machuca-Tzili L, Thorpe H, Robinson TE, Sewry C, Brook JD. Machuca-Tzili L, et al. Among authors: brook jd. Hum Genet. 2006 Nov;120(4):487-99. doi: 10.1007/s00439-006-0228-8. Epub 2006 Aug 23. Hum Genet. 2006. PMID: 16927100

6

Holt-Oram syndrome is caused by mutations in TBX5, a member of the Brachyury (T) gene family.

Li QY, Newbury-Ecob RA, Terrett JA, Wilson DI, Curtis AR, Yi CH, Gebuhr T, Bullen PJ, Robson SC, Strachan T, Bonnet D, Lyonnet S, Young ID, Raeburn JA, Buckler AJ, Law DJ, Brook JD. Li QY, et al. Among authors: brook jd. Nat Genet. 1997 Jan;15(1):21-9. doi: 10.1038/ng0197-21. Nat Genet. 1997. PMID: 8988164

7

Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.

Kwok C, Weller PA, Guioli S, Foster JW, Mansour S, Zuffardi O, Punnett HH, Dominguez-Steglich MA, Brook JD, Young ID, et al. Kwok C, et al. Among authors: brook jd. Am J Hum Genet. 1995 Nov;57(5):1028-36. Am J Hum Genet. 1995. PMID: 7485151 Free PMC article.

8

Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy.

Harley HG, Rundle SA, MacMillan JC, Myring J, Brook JD, Crow S, Reardon W, Fenton I, Shaw DJ, Harper PS. Harley HG, et al. Among authors: brook jd. Am J Hum Genet. 1993 Jun;52(6):1164-74. Am J Hum Genet. 1993. PMID: 8503448 Free PMC article.

9

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.

Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, Harper PS, Housman DE, Shaw DJ. Harley HG, et al. Among authors: brook jd. Nature. 1992 Feb 6;355(6360):545-6. doi: 10.1038/355545a0. Nature. 1992. PMID: 1346923

10

Localisation of the myotonic dystrophy locus to 19q13.2-19q13.3 and its relationship to twelve polymorphic loci on 19q.

Harley HG, Walsh KV, Rundle S, Brook JD, Sarfarazi M, Koch MC, Floyd JL, Harper PS, Shaw DJ. Harley HG, et al. Among authors: brook jd. Hum Genet. 1991 May;87(1):73-80. doi: 10.1007/BF01213096. Hum Genet. 1991. PMID: 2037285

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