Jones AC - Search Results

1

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

2

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

3

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

4

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.

5

Non-penetrance in tuberous sclerosis.

Osborne JP, Jones AC, Burley MW, Jeganathan D, Young J, O'Callaghan FJ, Sampson JR, Povey S. Osborne JP, et al. Among authors: jones ac. Lancet. 2000 May 13;355(9216):1698. doi: 10.1016/s0140-6736(00)02247-9. Lancet. 2000. PMID: 10905251

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

Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis.

Jones AC, Austin J, Hansen N, Hoogendoorn B, Oefner PJ, Cheadle JP, O'Donovan MC. Jones AC, et al. Clin Chem. 1999 Aug;45(8 Pt 1):1133-40. Clin Chem. 1999. PMID: 10430776

9

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. Hum Mutat. 2007 Apr;28(4):322-8. doi: 10.1002/humu.20461. Hum Mutat. 2007. PMID: 17195164

10

Associations Between Ultra-Processed Food Consumption and Adverse Brain Health Outcomes.

Bhave VM, Oladele CR, Ament Z, Kijpaisalratana N, Jones AC, Couch CA, Patki A, Garcia Guarniz AL, Bennett A, Crowe M, Irvin MR, Kimberly WT. Bhave VM, et al. Among authors: jones ac. Neurology. 2024 Jun 11;102(11):e209432. doi: 10.1212/WNL.0000000000209432. Epub 2024 May 22. Neurology. 2024. PMID: 38776524

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