Carter ND - Search Results

1

Lack of c-kit mutation in familial urticaria pigmentosa.

Rosbotham JL, Malik NM, Syrris P, Jeffery S, Bedlow A, Gharraie S, Murday VA, Holden CA, Carter ND. Rosbotham JL, et al. Among authors: carter nd. Br J Dermatol. 1999 May;140(5):849-52. doi: 10.1046/j.1365-2133.1999.02814.x. Br J Dermatol. 1999. PMID: 10354021

2

Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease.

Syrris P, Carter ND, Patton MA. Syrris P, et al. Among authors: carter nd. Am J Med Genet. 1999 Nov 5;87(1):69-71. Am J Med Genet. 1999. PMID: 10528251

3

Three novel mutations of the proto-oncogene KIT cause human piebaldism.

Syrris P, Malik NM, Murday VA, Patton MA, Carter ND, Hughes HE, Metcalfe K. Syrris P, et al. Among authors: carter nd. Am J Med Genet. 2000 Nov 6;95(1):79-81. doi: 10.1002/1096-8628(20001106)95:1<79::aid-ajmg16>3.0.co;2-4. Am J Med Genet. 2000. PMID: 11074500 No abstract available.

4

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).

Heathcote K, Syrris P, Carter ND, Patton MA. Heathcote K, et al. Among authors: carter nd. J Med Genet. 2000 Jan;37(1):50-1. doi: 10.1136/jmg.37.1.50. J Med Genet. 2000. PMID: 10633135 Free PMC article.

5

Polymorphism in apolipoprotein(a) kringle IV 37(Met/Thr): frequency in a London population and its association with coronary artery disease.

Syrris P, Schwartzman R, Jeffery S, Kaski JC, Carter N. Syrris P, et al. Clin Cardiol. 1997 Oct;20(10):870-2. doi: 10.1002/clc.4960201014. Clin Cardiol. 1997. PMID: 9377824 Free PMC article.

6

Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts.

Murray A, Donger C, Fenske C, Spillman I, Richard P, Dong YB, Neyroud N, Chevalier P, Denjoy I, Carter N, Syrris P, Afzal AR, Patton MA, Guicheney P, Jeffery S. Murray A, et al. Circulation. 1999 Sep 7;100(10):1077-84. doi: 10.1161/01.cir.100.10.1077. Circulation. 1999. PMID: 10477533

7

Human piebaldism: six novel mutations of the proto-oncogene KIT.

Syrris P, Heathcote K, Carrozzo R, Devriendt K, Elçioglu N, Garrett C, McEntagart M, Carter ND. Syrris P, et al. Among authors: carter nd. Hum Mutat. 2002 Sep;20(3):234. doi: 10.1002/humu.9057. Hum Mutat. 2002. PMID: 12204004

8

Transforming growth factor-beta1 gene polymorphisms and coronary artery disease.

Syrris P, Carter ND, Metcalfe JC, Kemp PR, Grainger DJ, Kaski JC, Crossman DC, Francis SE, Gunn J, Jeffery S, Heathcote K. Syrris P, et al. Among authors: carter nd. Clin Sci (Lond). 1998 Dec;95(6):659-67. doi: 10.1042/cs0950659. Clin Sci (Lond). 1998. PMID: 9831690

9

Mutation detection in long QT syndrome: a comprehensive set of primers and PCR conditions.

Syrris P, Murray A, Carter ND, McKenna WM, Jeffery S. Syrris P, et al. Among authors: carter nd. J Med Genet. 2001 Oct;38(10):705-10. doi: 10.1136/jmg.38.10.705. J Med Genet. 2001. PMID: 11594341 Free PMC article. No abstract available.

10

Methylenetetrahydrofolate reductase polymorphism (C-677T) and coronary artery disease.

Malik NM, Syrris P, Schwartzman R, Kaski JC, Crossman DC, Francis SE, Carter ND, Jeffery S. Malik NM, et al. Among authors: carter nd. Clin Sci (Lond). 1998 Sep;95(3):311-5. Clin Sci (Lond). 1998. PMID: 9730850

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