Millar DS - Search Results

1

A nonsense mutation in the IKBKG gene in mares with incontinentia pigmenti.

Towers RE, Murgiano L, Millar DS, Glen E, Topf A, Jagannathan V, Drögemüller C, Goodship JA, Clarke AJ, Leeb T. Towers RE, et al. Among authors: millar ds. PLoS One. 2013 Dec 4;8(12):e81625. doi: 10.1371/journal.pone.0081625. eCollection 2013. PLoS One. 2013. PMID: 24324710 Free PMC article.

2

The generation of an induced pluripotent stem cell line (DCGi001-A) from an individual with FOXG1 syndrome carrying the c.460dupG (p.Glu154fs) variation in the FOXG1 gene.

Waite AJ, Millar D, Clarke A. Waite AJ, et al. Stem Cell Res. 2020 Dec;49:102018. doi: 10.1016/j.scr.2020.102018. Epub 2020 Oct 1. Stem Cell Res. 2020. PMID: 33096386 Free article.

3

NTNG1 mutations are a rare cause of Rett syndrome.

Archer HL, Evans JC, Millar DS, Thompson PW, Kerr AM, Leonard H, Christodoulou J, Ravine D, Lazarou L, Grove L, Verity C, Whatley SD, Pilz DT, Sampson JR, Clarke AJ. Archer HL, et al. Among authors: millar ds. Am J Med Genet A. 2006 Apr 1;140(7):691-4. doi: 10.1002/ajmg.a.31133. Am J Med Genet A. 2006. PMID: 16502428 Free PMC article.

4

Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short stature.

Millar DS, Lewis MD, Horan M, Newsway V, Easter TE, Gregory JW, Fryklund L, Norin M, Crowne EC, Davies SJ, Edwards P, Kirk J, Waldron K, Smith PJ, Phillips JA 3rd, Scanlon MF, Krawczak M, Cooper DN, Procter AM. Millar DS, et al. Hum Mutat. 2003 Apr;21(4):424-40. doi: 10.1002/humu.10168. Hum Mutat. 2003. PMID: 12655557

5

Molecular analysis of the genotype-phenotype relationship in factor X deficiency.

Millar DS, Elliston L, Deex P, Krawczak M, Wacey AI, Reynaud J, Nieuwenhuis HK, Bolton-Maggs P, Mannucci PM, Reverter JC, Cachia P, Pasi KJ, Layton DM, Cooper DN. Millar DS, et al. Hum Genet. 2000 Feb;106(2):249-57. doi: 10.1007/s004390051035. Hum Genet. 2000. PMID: 10746568

6

An isolated case of lissencephaly caused by the insertion of a mitochondrial genome-derived DNA sequence into the 5' untranslated region of the PAFAH1B1 (LIS1) gene.

Millar DS, Tysoe C, Lazarou LP, Pilz DT, Mohammed S, Anderson K, Chuzhanova N, Cooper DN, Butler R. Millar DS, et al. Hum Genomics. 2010 Aug;4(6):384-93. doi: 10.1186/1479-7364-4-6-384. Hum Genomics. 2010. PMID: 20846927 Free PMC article.

7

De novo splice site mutation in the antithrombin III (AT3) gene causing recurrent venous thrombosis: demonstration of exon skipping by ectopic transcript analysis.

Berg LP, Grundy CB, Thomas F, Millar DS, Green PJ, Slomski R, Reiss J, Kakkar VV, Cooper DN. Berg LP, et al. Among authors: millar ds. Genomics. 1992 Aug;13(4):1359-61. doi: 10.1016/0888-7543(92)90070-9. Genomics. 1992. PMID: 1505975

8

Growth hormone (GH1) gene variation and the growth hormone receptor (GHR) exon 3 deletion polymorphism in a West-African population.

Millar DS, Lewis MD, Horan M, Newsway V, Rees DA, Easter TE, Pepe G, Rickards O, Norin M, Scanlon MF, Krawczak M, Cooper DN. Millar DS, et al. Mol Cell Endocrinol. 2008 Dec 16;296(1-2):18-25. doi: 10.1016/j.mce.2008.09.023. Epub 2008 Oct 4. Mol Cell Endocrinol. 2008. PMID: 18950677

9

A novel nonsense mutation in the protein C (PROC) gene (Trp-29-->term) causing recurrent venous thrombosis.

Millar DS, Grundy CB, Bignell P, Mitchell DC, Corden D, Woods P, Kakkar VV, Cooper DN. Millar DS, et al. Hum Genet. 1993 Mar;91(2):196. doi: 10.1007/BF00222726. Hum Genet. 1993. PMID: 8462980

10

Recurrent deletion in the human antithrombin III gene.

Grundy CB, Thomas F, Millar DS, Krawczak M, Melissari E, Lindo V, Moffat E, Kakkar VV, Cooper DN. Grundy CB, et al. Among authors: millar ds. Blood. 1991 Aug 15;78(4):1027-32. Blood. 1991. PMID: 1868237 Free article.

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