Payne SJ - Search Results

1

Direct, non-radioactive detection of mutations in multiple endocrine neoplasia type 2A families.

McMahon R, Mulligan LM, Healey CS, Payne SJ, Ponder M, Ferguson-Smith MA, Barton DE, Ponder BA. McMahon R, et al. Among authors: payne sj. Hum Mol Genet. 1994 Apr;3(4):643-6. doi: 10.1093/hmg/3.4.643. Hum Mol Genet. 1994. PMID: 7915166

2

Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene.

Richards FM, Payne SJ, Zbar B, Affara NA, Ferguson-Smith MA, Maher ER. Richards FM, et al. Among authors: payne sj. Hum Mol Genet. 1995 Nov;4(11):2139-43. doi: 10.1093/hmg/4.11.2139. Hum Mol Genet. 1995. PMID: 8589692

3

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: payne sj. Clin Genet. 1993 Apr;43(4):186-9. doi: 10.1111/j.1399-0004.1993.tb04445.x. Clin Genet. 1993. PMID: 7687208

4

Evaluation of molecular genetic diagnosis in the management of familial adenomatous polyposis coli: a population based study.

Maher ER, Barton DE, Slatter R, Koch DJ, Jones MH, Nagase H, Payne SJ, Charles SJ, Moore AT, Nakamura Y, et al. Maher ER, et al. Among authors: payne sj. J Med Genet. 1993 Aug;30(8):675-8. doi: 10.1136/jmg.30.8.675. J Med Genet. 1993. PMID: 8105087 Free PMC article.

5

Improved genetic mapping of X linked retinoschisis.

George ND, Payne SJ, Bill RM, Barton DE, Moore AT, Yates JR. George ND, et al. Among authors: payne sj. J Med Genet. 1996 Nov;33(11):919-22. doi: 10.1136/jmg.33.11.919. J Med Genet. 1996. PMID: 8950671 Free PMC article.

6

Presymptomatic diagnosis of von Hippel-Lindau disease with flanking DNA markers.

Maher ER, Bentley E, Payne SJ, Latif F, Richards FM, Chiano M, Hosoe S, Yates JR, Linehan M, Barton DE, et al. Maher ER, et al. Among authors: payne sj. J Med Genet. 1992 Dec;29(12):902-5. doi: 10.1136/jmg.29.12.902. J Med Genet. 1992. PMID: 1362224 Free PMC article.

7

Stickler syndrome: correlation between vitreoretinal phenotypes and linkage to COL 2A1.

Snead MP, Payne SJ, Barton DE, Yates JR, al-Imara L, Pope FM, Scott JD. Snead MP, et al. Among authors: payne sj. Eye (Lond). 1994;8 ( Pt 6):609-14. doi: 10.1038/eye.1994.153. Eye (Lond). 1994. PMID: 7867814

8

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: payne sj. 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.

9

A PCR generated AccI RFLP in the 3' untranslated region of the von Hippel-Lindau disease (VHL) tumour suppressor gene.

Payne SJ, Richards FM, Maher ER. Payne SJ, et al. Hum Mol Genet. 1994 Feb;3(2):390. doi: 10.1093/hmg/3.2.390. Hum Mol Genet. 1994. PMID: 7911705 No abstract available.

10

Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis.

Yates JR, van Bakel I, Sepp T, Payne SJ, Webb DW, Nevin NC, Green AJ. Yates JR, et al. Among authors: payne sj. Hum Mol Genet. 1997 Dec;6(13):2265-9. doi: 10.1093/hmg/6.13.2265. Hum Mol Genet. 1997. PMID: 9361032

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