Strachan T - Search Results

1

A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome.

Collier S, Tassabehji M, Sinnott P, Strachan T. Collier S, et al. Among authors: strachan t. Nat Genet. 1993 Mar;3(3):260-5. doi: 10.1038/ng0393-260. Nat Genet. 1993. PMID: 8485582

2

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene.

Tassabehji M, Read AP, Newton VE, Harris R, Balling R, Gruss P, Strachan T. Tassabehji M, et al. Among authors: strachan t. Nature. 1992 Feb 13;355(6361):635-6. doi: 10.1038/355635a0. Nature. 1992. PMID: 1347148

3

A method for specific amplification and PCR sequencing of individual members of multigene families: application to the study of steroid 21-hydroxylase deficiency.

Collier S, Tassabehji M, Strachan T. Collier S, et al. Among authors: strachan t. PCR Methods Appl. 1992 Feb;1(3):181-6. doi: 10.1101/gr.1.3.181. PCR Methods Appl. 1992. PMID: 1472941 Free article.

4

CYP21/C4 gene organisation in Italian 21-hydroxylase deficiency families.

Sinnott PJ, Livieri C, Sampietro M, Marconi M, Harris R, Severi F, Strachan T. Sinnott PJ, et al. Among authors: strachan t. Hum Genet. 1992 Mar;88(5):545-51. doi: 10.1007/BF00219342. Hum Genet. 1992. PMID: 1551657

5

Extended MHC haplotypes and CYP21/C4 gene organisation in Irish 21-hydroxylase deficiency families.

Sinnott PJ, Costigan C, Dyer PA, Harris R, Strachan T. Sinnott PJ, et al. Among authors: strachan t. Hum Genet. 1991 Jul;87(3):361-6. doi: 10.1007/BF00200920. Hum Genet. 1991. PMID: 1677925

6

Genesis by meiotic unequal crossover of a de novo deletion that contributes to steroid 21-hydroxylase deficiency.

Sinnott P, Collier S, Costigan C, Dyer PA, Harris R, Strachan T. Sinnott P, et al. Among authors: strachan t. Proc Natl Acad Sci U S A. 1990 Mar;87(6):2107-11. doi: 10.1073/pnas.87.6.2107. Proc Natl Acad Sci U S A. 1990. PMID: 2315306 Free PMC article.

7

21-hydroxylase deficiency families with HLA identical affected and unaffected sibs.

Sinnott PJ, Dyer PA, Price DA, Harris R, Strachan T. Sinnott PJ, et al. Among authors: strachan t. J Med Genet. 1989 Jan;26(1):10-7. doi: 10.1136/jmg.26.1.10. J Med Genet. 1989. PMID: 2783976 Free PMC article.

8

Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes.

Collier S, Sinnott PJ, Dyer PA, Price DA, Harris R, Strachan T. Collier S, et al. Among authors: strachan t. EMBO J. 1989 May;8(5):1393-402. doi: 10.1002/j.1460-2075.1989.tb03520.x. EMBO J. 1989. PMID: 2788573 Free PMC article.

9

Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome.

Tassabehji M, Strachan T, Sharland M, Colley A, Donnai D, Harris R, Thakker N. Tassabehji M, et al. Among authors: strachan t. Am J Hum Genet. 1993 Jul;53(1):90-5. Am J Hum Genet. 1993. PMID: 8317503 Free PMC article.

10

Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2.

Tassabehji M, Read AP, Newton VE, Patton M, Gruss P, Harris R, Strachan T. Tassabehji M, et al. Among authors: strachan t. Nat Genet. 1993 Jan;3(1):26-30. doi: 10.1038/ng0193-26. Nat Genet. 1993. PMID: 8490648

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