Jones A - Search Results

1

RPGR mutation analysis and disease: an update.

Shu X, Black GC, Rice JM, Hart-Holden N, Jones A, O'Grady A, Ramsden S, Wright AF. Shu X, et al. Among authors: jones a. Hum Mutat. 2007 Apr;28(4):322-8. doi: 10.1002/humu.20461. Hum Mutat. 2007. PMID: 17195164

2

Influence of the MTHFR genotype on the rate of malformations following exposure to antiepileptic drugs in utero.

Kini U, Lee R, Jones A, Smith S, Ramsden S, Fryer A, Clayton-Smith J; Liverpool Manchester Neurodevelopmental Study Group. Kini U, et al. Among authors: jones a. Eur J Med Genet. 2007 Nov-Dec;50(6):411-20. doi: 10.1016/j.ejmg.2007.08.002. Epub 2007 Sep 11. Eur J Med Genet. 2007. PMID: 17951123

3

Comprehensive mutation analysis of TSC1 and TSC2-and phenotypic correlations in 150 families with tuberous sclerosis.

Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP. Jones AC, et al. Am J Hum Genet. 1999 May;64(5):1305-15. doi: 10.1086/302381. Am J Hum Genet. 1999. PMID: 10205261 Free PMC article. Review.

4

Maheshwar MM, Cheadle JP, Jones AC, Myring J, Fryer AE, Harris PC, Sampson JR. Maheshwar MM, et al. Among authors: jones ac. Hum Mol Genet. 1997 Oct;6(11):1991-6. doi: 10.1093/hmg/6.11.1991. Hum Mol Genet. 1997. PMID: 9302281

5

Molecular genetic and phenotypic analysis reveals differences between TSC1 and TSC2 associated familial and sporadic tuberous sclerosis.

Jones AC, Daniells CE, Snell RG, Tachataki M, Idziaszczyk SA, Krawczak M, Sampson JR, Cheadle JP. Jones AC, et al. Hum Mol Genet. 1997 Nov;6(12):2155-61. doi: 10.1093/hmg/6.12.2155. Hum Mol Genet. 1997. PMID: 9328481

6

Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis.

Jones AC, Sampson JR, Hoogendoorn B, Cohen D, Cheadle JP. Jones AC, et al. Hum Genet. 2000 Jun;106(6):663-8. doi: 10.1007/s004390000316. Hum Genet. 2000. PMID: 10942116

7

Low level mosaicism detectable by DHPLC but not by direct sequencing.

Jones AC, Sampson JR, Cheadle JP. Jones AC, et al. Hum Mutat. 2001 Mar;17(3):233-4. doi: 10.1002/humu.8. Hum Mutat. 2001. PMID: 11241845 No abstract available.

8

Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34.

van Slegtenhorst M, de Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, Lindhout D, van den Ouweland A, Halley D, Young J, Burley M, Jeremiah S, Woodward K, Nahmias J, Fox M, Ekong R, Osborne J, Wolfe J, Povey S, Snell RG, Cheadle JP, Jones AC, Tachataki M, Ravine D, Sampson JR, Reeve MP, Richardson P, Wilmer F, Munro C, Hawkins TL, Sepp T, Ali JB, Ward S, Green AJ, Yates JR, Kwiatkowska J, Henske EP, Short MP, Haines JH, Jozwiak S, Kwiatkowski DJ. van Slegtenhorst M, et al. Among authors: jones ac. Science. 1997 Aug 8;277(5327):805-8. doi: 10.1126/science.277.5327.805. Science. 1997. PMID: 9242607

9

Diagnosing and managing patients with heart failure with preserved ejection fraction: a consensus survey.

Austin R, Khair E, Blakeman T, Hossain MZ, Sowden E, Chew-Graham C, Forsyth F, Deaton C; Optimise HFpEF Investigators; Optimise HFpEF Investigators. Austin R, et al. BMJ Open. 2024 Dec 20;14(12):e092993. doi: 10.1136/bmjopen-2024-092993. BMJ Open. 2024. PMID: 39806710

10

Rehabilitation Outcomes and Experiences of People Living With Dementia: A Mixed-Methods Study.

Ally MZ, Casey J, Devitt R, Filinski J, Marple R, Beleno R, Kadri Z, Hussain Z, Jones A, Straus SE, Marr S, Goodarzi Z, Watt JA. Ally MZ, et al. Among authors: jones a. J Am Med Dir Assoc. 2025 Jan 10:105460. doi: 10.1016/j.jamda.2024.105460. Online ahead of print. J Am Med Dir Assoc. 2025. PMID: 39805322 No abstract available.

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