Macpherson JN - Search Results

1

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome.

Eichler EE, Macpherson JN, Murray A, Jacobs PA, Chakravarti A, Nelson DL. Eichler EE, et al. Among authors: macpherson jn. Hum Mol Genet. 1996 Mar;5(3):319-30. doi: 10.1093/hmg/5.3.319. Hum Mol Genet. 1996. PMID: 8852655

2

Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers.

Murray A, Youings S, Dennis N, Latsky L, Linehan P, McKechnie N, Macpherson J, Pound M, Jacobs P. Murray A, et al. Hum Mol Genet. 1996 Jun;5(6):727-35. doi: 10.1093/hmg/5.6.727. Hum Mol Genet. 1996. PMID: 8776586

3

Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.

Macpherson JN, Curtis G, Crolla JA, Dennis N, Migeon B, Grewal PK, Hirst MC, Davies KE, Jacobs PA. Macpherson JN, et al. J Med Genet. 1995 Mar;32(3):236-9. doi: 10.1136/jmg.32.3.236. J Med Genet. 1995. PMID: 7783179 Free PMC article.

4

Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation.

Macpherson JN, Bullman H, Youings SA, Jacobs PA. Macpherson JN, et al. Hum Mol Genet. 1994 Mar;3(3):399-405. doi: 10.1093/hmg/3.3.399. Hum Mol Genet. 1994. PMID: 8012351

5

Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions.

Eichler EE, Hammond HA, Macpherson JN, Ward PA, Nelson DL. Eichler EE, et al. Among authors: macpherson jn. Hum Mol Genet. 1995 Dec;4(12):2199-208. doi: 10.1093/hmg/4.12.2199. Hum Mol Genet. 1995. PMID: 8634688

6

Predisposition to the fragile X syndrome in Jews of Tunisian descent is due to the absence of AGG interruptions on a rare Mediterranean haplotype.

Falik-Zaccai TC, Shachak E, Yalon M, Lis Z, Borochowitz Z, Macpherson JN, Nelson DL, Eichler EE. Falik-Zaccai TC, et al. Among authors: macpherson jn. Am J Hum Genet. 1997 Jan;60(1):103-12. Am J Hum Genet. 1997. PMID: 8981953 Free PMC article.

7

The role of size, sequence and haplotype in the stability of FRAXA and FRAXE alleles during transmission.

Murray A, Macpherson JN, Pound MC, Sharrock A, Youings SA, Dennis NR, McKechnie N, Linehan P, Morton NE, Jacobs PA. Murray A, et al. Among authors: macpherson jn. Hum Mol Genet. 1997 Feb;6(2):173-84. doi: 10.1093/hmg/6.2.173. Hum Mol Genet. 1997. PMID: 9063737

8

Re-examination of factors associated with expansion of CGG repeats using a single nucleotide polymorphism in FMR1.

Gunter C, Paradee W, Crawford DC, Meadows KA, Newman J, Kunst CB, Nelson DL, Schwartz C, Murray A, Macpherson JN, Sherman SL, Warren ST. Gunter C, et al. Among authors: macpherson jn. Hum Mol Genet. 1998 Nov;7(12):1935-46. doi: 10.1093/hmg/7.12.1935. Hum Mol Genet. 1998. PMID: 9811938

9

Stability and haplotype analysis of the FRAXE region.

Murray A, Ennis S, Youings SA, Sharrock AJ, Lewis C, Pound MC, Macpherson JN, Dennis NR, Morton NE, Jacobs PA. Murray A, et al. Among authors: macpherson jn. Eur J Hum Genet. 2000 Aug;8(8):583-9. doi: 10.1038/sj.ejhg.5200504. Eur J Hum Genet. 2000. PMID: 10951520

10

Intermediate sized CGG repeats are not a common cause of idiopathic premature ovarian failure.

Bennett CE, Conway GS, Macpherson JN, Jacobs PA, Murray A. Bennett CE, et al. Among authors: macpherson jn. Hum Reprod. 2010 May;25(5):1335-8. doi: 10.1093/humrep/deq058. Epub 2010 Mar 13. Hum Reprod. 2010. PMID: 20228389 Free PMC article.

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