Tassabehji M - Search Results

1

Identification of a novel family of human endogenous retroviruses and characterization of one family member, HERV-K(C4), located in the complement C4 gene cluster.

Tassabehji M, Strachan T, Anderson M, Campbell RD, Collier S, Lako M. Tassabehji M, et al. Nucleic Acids Res. 1994 Dec 11;22(24):5211-7. doi: 10.1093/nar/22.24.5211. Nucleic Acids Res. 1994. PMID: 7816608 Free PMC article.

2

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: tassabehji m. PCR Methods Appl. 1992 Feb;1(3):181-6. doi: 10.1101/gr.1.3.181. PCR Methods Appl. 1992. PMID: 1472941 Free article.

3

Characterization of an expressible nonclassical class I HLA gene.

Pook MA, Woodcock V, Tassabehji M, Campbell RD, Summers CW, Taylor M, Strachan T. Pook MA, et al. Among authors: tassabehji m. Hum Immunol. 1991 Oct;32(2):102-9. doi: 10.1016/0198-8859(91)90106-j. Hum Immunol. 1991. PMID: 1744000

4

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: tassabehji m. Nat Genet. 1993 Mar;3(3):260-5. doi: 10.1038/ng0393-260. Nat Genet. 1993. PMID: 8485582

5

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. Nature. 1992 Feb 13;355(6361):635-6. doi: 10.1038/355635a0. Nature. 1992. PMID: 1347148

6

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. Am J Hum Genet. 1993 Jul;53(1):90-5. Am J Hum Genet. 1993. PMID: 8317503 Free PMC article.

7

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. Nat Genet. 1993 Jan;3(1):26-30. doi: 10.1038/ng0193-26. Nat Genet. 1993. PMID: 8490648

8

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.

Tassabehji M, Newton VE, Leverton K, Turnbull K, Seemanova E, Kunze J, Sperling K, Strachan T, Read AP. Tassabehji M, et al. Hum Mol Genet. 1994 Jul;3(7):1069-74. doi: 10.1093/hmg/3.7.1069. Hum Mol Genet. 1994. PMID: 7981674

9

Isolation and characterisation of GTF2IRD2, a novel fusion gene and member of the TFII-I family of transcription factors, deleted in Williams-Beuren syndrome.

Tipney HJ, Hinsley TA, Brass A, Metcalfe K, Donnai D, Tassabehji M. Tipney HJ, et al. Among authors: tassabehji m. Eur J Hum Genet. 2004 Jul;12(7):551-60. doi: 10.1038/sj.ejhg.5201174. Eur J Hum Genet. 2004. PMID: 15100712

10

Elastin: genomic structure and point mutations in patients with supravalvular aortic stenosis.

Tassabehji M, Metcalfe K, Donnai D, Hurst J, Reardon W, Burch M, Read AP. Tassabehji M, et al. Hum Mol Genet. 1997 Jul;6(7):1029-36. doi: 10.1093/hmg/6.7.1029. Hum Mol Genet. 1997. PMID: 9215671

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