Fitzpatrick DR - Search Results

1

Presymptomatic testing for Huntington's disease by linkage and by direct mutation analysis: comparison of uptake of testing and characteristics of test applicants.

Holloway SM, Porteous ME, Fitzpatrick DR, Crosbie AE, Cetnarskyj R, Warner J, Barron L. Holloway SM, et al. Among authors: fitzpatrick dr. Genet Couns. 1998;9(2):103-11. Genet Couns. 1998. PMID: 9664206

2

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: fitzpatrick dr. 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.

3

BRCA1 5382insC mutation in sporadic and familial breast and ovarian carcinoma in Scotland.

Mullen P, Miller WR, Mackay J, Fitzpatrick DR, Langdon SP, Warner JP. Mullen P, et al. Among authors: fitzpatrick dr. Br J Cancer. 1997;75(9):1377-80. doi: 10.1038/bjc.1997.233. Br J Cancer. 1997. PMID: 9155062 Free PMC article.

4

Clinical phenotype of desmosterolosis.

FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, Mills K, Winter RM, Clayton PT. FitzPatrick DR, et al. Am J Med Genet. 1998 Jan 13;75(2):145-52. Am J Med Genet. 1998. PMID: 9450875

5

A locus for isolated cleft palate, located on human chromosome 2q32.

Brewer CM, Leek JP, Green AJ, Holloway S, Bonthron DT, Markham AF, FitzPatrick DR. Brewer CM, et al. Among authors: fitzpatrick dr. Am J Hum Genet. 1999 Aug;65(2):387-96. doi: 10.1086/302498. Am J Hum Genet. 1999. PMID: 10417281 Free PMC article.

6

FISH mapping of de novo apparently balanced chromosome rearrangements identifies characteristics associated with phenotypic abnormality.

Fantes JA, Boland E, Ramsay J, Donnai D, Splitt M, Goodship JA, Stewart H, Whiteford M, Gautier P, Harewood L, Holloway S, Sharkey F, Maher E, van Heyningen V, Clayton-Smith J, Fitzpatrick DR, Black GC. Fantes JA, et al. Among authors: fitzpatrick dr. Am J Hum Genet. 2008 Apr;82(4):916-26. doi: 10.1016/j.ajhg.2008.02.007. Epub 2008 Mar 27. Am J Hum Genet. 2008. PMID: 18374296 Free PMC article.

7

Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing.

Hocking LJ, Andrews C, Armstrong C, Ansari M, Baty D, Berg J, Bradley T, Clark C, Diamond A, Doherty J, Lampe A, McGowan R, Moore DJ, O'Sullivan D, Purvis A, Santoyo-Lopez J, Westwood P, Abbott M, Williams N; Scottish Genomes Partnership; Aitman TJ, Miedzybrodzka Z. Hocking LJ, et al. Eur J Hum Genet. 2023 Feb;31(2):231-238. doi: 10.1038/s41431-022-01226-3. Epub 2022 Dec 6. Eur J Hum Genet. 2023. PMID: 36474026 Free PMC article.

8

Neurogenic chronic idiopathic intestinal pseudo-obstruction, patent ductus arteriosus, and thrombocytopenia segregating as an X linked recessive disorder.

FitzPatrick DR, Strain L, Thomas AE, Barr DG, Todd A, Smith NM, Scobie WG. FitzPatrick DR, et al. J Med Genet. 1997 Aug;34(8):666-9. doi: 10.1136/jmg.34.8.666. J Med Genet. 1997. PMID: 9279759 Free PMC article.

9

MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.

Wightman PJ, Santer R, Ribes A, Dougherty F, McGill N, Thorburn DR, FitzPatrick DR. Wightman PJ, et al. Among authors: fitzpatrick dr. Hum Mutat. 2003 Oct;22(4):288-300. doi: 10.1002/humu.10264. Hum Mutat. 2003. PMID: 12955715

10

MS-PCR assay to detect 677C-->T mutation in the 5,10-methylenetetrahydrofolate reductase gene.

Hill AE, FitzPatrick DR. Hill AE, et al. Among authors: fitzpatrick dr. J Inherit Metab Dis. 1998 Aug;21(6):694-5. doi: 10.1023/a:1005413524070. J Inherit Metab Dis. 1998. PMID: 9762616 No abstract available.

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