MacPherson JN - Search Results

1

Multiplex families with epilepsy: Success of clinical and molecular genetic characterization.

Afawi Z, Oliver KL, Kivity S, Mazarib A, Blatt I, Neufeld MY, Helbig KL, Goldberg-Stern H, Misk AJ, Straussberg R, Walid S, Mahajnah M, Lerman-Sagie T, Ben-Zeev B, Kahana E, Masalha R, Kramer U, Ekstein D, Shorer Z, Wallace RH, Mangelsdorf M, MacPherson JN, Carvill GL, Mefford HC, Jackson GD, Scheffer IE, Bahlo M, Gecz J, Heron SE, Corbett M, Mulley JC, Dibbens LM, Korczyn AD, Berkovic SF. Afawi Z, et al. Among authors: macpherson jn. Neurology. 2016 Feb 23;86(8):713-22. doi: 10.1212/WNL.0000000000002404. Epub 2016 Jan 22. Neurology. 2016. PMID: 26802095 Free PMC article.

2

Population studies of the fragile X: a molecular approach.

Jacobs PA, Bullman H, Macpherson J, Youings S, Rooney V, Watson A, Dennis NR. Jacobs PA, et al. J Med Genet. 1993 Jun;30(6):454-9. doi: 10.1136/jmg.30.6.454. J Med Genet. 1993. PMID: 8326487 Free PMC article.

3

Scope for more genetic testing in learning disability. Case report of an inherited duplication on the X-chromosome.

Robertshaw BA, MacPherson J. Robertshaw BA, et al. Br J Psychiatry. 2006 Aug;189:99-101. doi: 10.1192/bjp.189.2.99. Br J Psychiatry. 2006. PMID: 16880477

4

Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'.

Macpherson JN, Nelson DL, Jacobs PA. Macpherson JN, et al. J Med Genet. 1992 Nov;29(11):802-6. doi: 10.1136/jmg.29.11.802. J Med Genet. 1992. PMID: 1453431 Free PMC article.

5

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

6

A reinvestigation of thirty three fragile(X) families using probe StB12.3.

Macpherson J, Harvey J, Curtis G, Webb T, Heitz D, Rousseau F, Jacobs P. Macpherson J, et al. Am J Med Genet. 1992 Jul 15;43(5):905-12. doi: 10.1002/ajmg.1320430535. Am J Med Genet. 1992. PMID: 1642285

7

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

8

Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype.

Dennis NR, Curtis G, Macpherson JN, Jacobs PA. Dennis NR, et al. Among authors: macpherson jn. Am J Med Genet. 1992 Apr 15-May 1;43(1-2):232-6. doi: 10.1002/ajmg.1320430137. Am J Med Genet. 1992. PMID: 1605196

9

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.

10

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

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