Barton DE - Search Results

1

National Newborn Screening for cystic fibrosis in the Republic of Ireland: genetic data from the first 6.5 years.

Sasaki E, Kostocenko M, Lang N, Clark T, Rogers M, Muldowney R, Walsh O, O'Grady L, Edge G, Ward A, Linnane B, Borovickova I, Barton DE, Lynch SA. Sasaki E, et al. Among authors: barton de. Eur J Hum Genet. 2020 Dec;28(12):1669-1674. doi: 10.1038/s41431-020-0661-5. Epub 2020 Jun 1. Eur J Hum Genet. 2020. PMID: 32483343 Free PMC article.

2

Managing uncertainty in inherited cardiac pathologies-an international multidisciplinary survey.

McVeigh TP, Kelly LJ, Whitmore E, Clark T, Mullaney B, Barton DE, Ward A, Lynch SA. McVeigh TP, et al. Among authors: barton de. Eur J Hum Genet. 2019 Aug;27(8):1178-1185. doi: 10.1038/s41431-019-0391-8. Epub 2019 Apr 12. Eur J Hum Genet. 2019. PMID: 30979968 Free PMC article.

3

Incidence of Fragile X syndrome in Ireland.

O'Byrne JJ, Sweeney M, Donnelly DE, Lambert DM, Beattie ED, Gervin CM, Barton DE, Lynch SA. O'Byrne JJ, et al. Among authors: barton de. Am J Med Genet A. 2017 Mar;173(3):678-683. doi: 10.1002/ajmg.a.38081. Epub 2017 Feb 3. Am J Med Genet A. 2017. PMID: 28157260

4

Genotype analysis in cystic fibrosis in relation to the occurrence of diabetes mellitus.

Hamdi I, Payne SJ, Barton DE, McMahon R, Green M, Shneerson JM, Hales CN. Hamdi I, et al. Among authors: barton de. Clin Genet. 1993 Apr;43(4):186-9. doi: 10.1111/j.1399-0004.1993.tb04445.x. Clin Genet. 1993. PMID: 7687208

5

Uroplakin III is not a major candidate gene for primary vesicoureteral reflux.

Kelly H, Ennis S, Yoneda A, Bermingham C, Shields DC, Molony C, Green AJ, Puri P, Barton DE. Kelly H, et al. Among authors: barton de. Eur J Hum Genet. 2005 Apr;13(4):500-2. doi: 10.1038/sj.ejhg.5201322. Eur J Hum Genet. 2005. PMID: 15523493

6

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome.

Hawkins M, Boyle J, Wright KE, Elles R, Ramsden SC, O'Grady A, Sweeney M, Barton DE, Burgess T, Moore M, Burns C, Stacey G, Gray E, Metcalfe P, Hawkins JR. Hawkins M, et al. Among authors: barton de. Eur J Hum Genet. 2011 Jan;19(1):10-7. doi: 10.1038/ejhg.2010.135. Epub 2010 Aug 25. Eur J Hum Genet. 2011. PMID: 20736975 Free PMC article.

7

A genome-wide scan for genes involved in primary vesicoureteric reflux.

Kelly H, Molony CM, Darlow JM, Pirker ME, Yoneda A, Green AJ, Puri P, Barton DE. Kelly H, et al. Among authors: barton de. J Med Genet. 2007 Nov;44(11):710-7. doi: 10.1136/jmg.2007.051086. Epub 2007 Jul 27. J Med Genet. 2007. PMID: 17660461 Free PMC article.

8

Heterozygous non-synonymous ROBO2 variants are unlikely to be sufficient to cause familial vesicoureteric reflux.

Dobson MG, Darlow JM, Hunziker M, Green AJ, Barton DE, Puri P. Dobson MG, et al. Among authors: barton de. Kidney Int. 2013 Aug;84(2):327-37. doi: 10.1038/ki.2013.100. Epub 2013 Mar 27. Kidney Int. 2013. PMID: 23536131 Free article.

9

Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history.

Green MR, Weaver LT, Heeley AF, Nicholson K, Kuzemko JA, Barton DE, McMahon R, Payne SJ, Austin S, Yates JR, et al. Green MR, et al. Among authors: barton de. Arch Dis Child. 1993 Apr;68(4):464-7. doi: 10.1136/adc.68.4.464. Arch Dis Child. 1993. PMID: 8503667 Free PMC article.

10

Analysis of the huntingtin gene reveals a trinucleotide-length polymorphism in the region of the gene that contains two CCG-rich stretches and a correlation between decreased age of onset of Huntington's disease and CAG repeat number.

Rubinsztein DC, Barton DE, Davison BC, Ferguson-Smith MA. Rubinsztein DC, et al. Among authors: barton de. Hum Mol Genet. 1993 Oct;2(10):1713-5. doi: 10.1093/hmg/2.10.1713. Hum Mol Genet. 1993. PMID: 8268927 No abstract available.

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