Wilton SD - Search Results

1

Severe gamma-sarcoglycanopathy caused by a novel missense mutation and a large deletion.

Nowak KJ, Walsh P, Jacob RL, Johnsen RD, Peverall J, McNally EM, Wilton SD, Kakulas BA, Laing NG. Nowak KJ, et al. Among authors: wilton sd. Neuromuscul Disord. 2000 Feb;10(2):100-7. doi: 10.1016/s0960-8966(99)00063-2. Neuromuscul Disord. 2000. PMID: 10714584

2

A (CA)n repeat polymorphism for the human skeletal muscle alpha-actinin gene ACTN2 and its localization on the linkage map of chromosome 1.

Beggs AH, Phillips HA, Kozman H, Mulley JC, Wilton SD, Kunkel LM, Laing NG. Beggs AH, et al. Among authors: wilton sd. Genomics. 1992 Aug;13(4):1314-5. doi: 10.1016/0888-7543(92)90054-v. Genomics. 1992. PMID: 1505962

3

Assignment of the human beta tropomyosin gene (TPM2) to band 9p13 by fluorescence in situ hybridisation.

Hunt CC, Eyre HJ, Akkari PA, Meredith C, Dorosz SM, Wilton SD, Callen DF, Laing NG, Baker E. Hunt CC, et al. Among authors: wilton sd. Cytogenet Cell Genet. 1995;71(1):94-5. doi: 10.1159/000134070. Cytogenet Cell Genet. 1995. PMID: 7606936

4

A mutation in the alpha tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy.

Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, Blumbergs P, White S, Watkins H, Love DR, et al. Laing NG, et al. Among authors: wilton sd. Nat Genet. 1995 Jan;9(1):75-9. doi: 10.1038/ng0195-75. Nat Genet. 1995. PMID: 7704029

5

Assignment of the human skeletal muscle alpha-tropomyosin gene (TPM1) to band 15q22 by fluorescence in situ hybridization.

Eyre H, Akkari PA, Wilton SD, Callen DC, Baker E, Laing NG. Eyre H, et al. Among authors: wilton sd. Cytogenet Cell Genet. 1995;69(1-2):15-7. doi: 10.1159/000133928. Cytogenet Cell Genet. 1995. PMID: 7835079

6

Autosomal dominant distal myopathy: linkage to chromosome 14.

Laing NG, Laing BA, Meredith C, Wilton SD, Robbins P, Honeyman K, Dorosz S, Kozman H, Mastaglia FL, Kakulas BA. Laing NG, et al. Among authors: wilton sd. Am J Hum Genet. 1995 Feb;56(2):422-7. Am J Hum Genet. 1995. PMID: 7847377 Free PMC article.

7

Assignment of the human a-tropomyosin gene TPM3 to 1q22-->q23 by fluorescence in situ hybridisation.

Wilton SD, Eyre H, Akkari PA, Watkins HC, MacRae C, Laing NG, Callen DC. Wilton SD, et al. Cytogenet Cell Genet. 1995;68(1-2):122-4. doi: 10.1159/000133905. Cytogenet Cell Genet. 1995. PMID: 7956350

8

"Sporadic" motoneuron disease due to familial SOD1 mutation with low penetrance.

Suthers G, Laing N, Wilton S, Dorosz S, Waddy H. Suthers G, et al. Lancet. 1994 Dec 24-31;344(8939-8940):1773. doi: 10.1016/s0140-6736(94)92913-0. Lancet. 1994. PMID: 7997024 No abstract available.

9

Identification of a point mutation and germinal mosaicism in a Duchenne muscular dystrophy family.

Wilton SD, Chandler DC, Kakulas BA, Laing NG. Wilton SD, et al. Hum Mutat. 1994;3(2):133-40. doi: 10.1002/humu.1380030208. Hum Mutat. 1994. PMID: 8199594

10

Assignment of the human skeletal muscle alpha actin gene (ACTA1) to 1q42 by fluorescence in situ hybridisation.

Akkari PA, Eyre HJ, Wilton SD, Callen DF, Lane SA, Meredith C, Kedes L, Laing NG. Akkari PA, et al. Among authors: wilton sd. Cytogenet Cell Genet. 1994;65(4):265-7. doi: 10.1159/000133644. Cytogenet Cell Genet. 1994. PMID: 8258301

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