Thomas GR - Search Results

1

Wilson disease in Iceland: a clinical and genetic study.

Thomas GR, Jensson O, Gudmundsson G, Thorsteinsson L, Cox DW. Thomas GR, et al. Am J Hum Genet. 1995 May;56(5):1140-6. Am J Hum Genet. 1995. PMID: 7726170 Free PMC article.

2

The Wilson disease gene: spectrum of mutations and their consequences.

Thomas GR, Forbes JR, Roberts EA, Walshe JM, Cox DW. Thomas GR, et al. Nat Genet. 1995 Feb;9(2):210-7. doi: 10.1038/ng0295-210. Nat Genet. 1995. PMID: 7626145

3

Haplotypes and mutations in Wilson disease.

Thomas GR, Roberts EA, Walshe JM, Cox DW. Thomas GR, et al. Am J Hum Genet. 1995 Jun;56(6):1315-9. Am J Hum Genet. 1995. PMID: 7762553 Free PMC article.

4

Allelic association and linkage studies in Wilson disease.

Thomas GR, Roberts EA, Rosales TO, Moroz SP, Lambert MA, Wong LT, Cox DW. Thomas GR, et al. Hum Mol Genet. 1993 Sep;2(9):1401-5. doi: 10.1093/hmg/2.9.1401. Hum Mol Genet. 1993. PMID: 7902160

5

DNA markers for the diagnosis of Wilson disease.

Houwen RH, Roberts EA, Thomas GR, Cox DW. Houwen RH, et al. Among authors: thomas gr. J Hepatol. 1993 Mar;17(3):269-76. doi: 10.1016/s0168-8278(05)80204-1. J Hepatol. 1993. PMID: 8100247

6

Haplotype studies in Wilson disease.

Thomas GR, Bull PC, Roberts EA, Walshe JM, Cox DW. Thomas GR, et al. Am J Hum Genet. 1994 Jan;54(1):71-8. Am J Hum Genet. 1994. PMID: 8279472 Free PMC article.

7

The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene.

Bull PC, Thomas GR, Rommens JM, Forbes JR, Cox DW. Bull PC, et al. Among authors: thomas gr. Nat Genet. 1993 Dec;5(4):327-37. doi: 10.1038/ng1293-327. Nat Genet. 1993. PMID: 8298639

8

Application of inverse PCR to isolation of end probes from cosmids.

Byth BC, Thomas GR, Hofland N, Cox DW. Byth BC, et al. Among authors: thomas gr. Nucleic Acids Res. 1994 May 11;22(9):1766-7. doi: 10.1093/nar/22.9.1766. Nucleic Acids Res. 1994. PMID: 8202385 Free PMC article.

9

24 bp deletion and Ala1278 to Val mutation of the ATP7B gene in a Sardinian family with Wilson disease.

Orrù S, Thomas G, Loizedda A, Cox DW, Contu L. Orrù S, et al. Hum Mutat. 1997;10(1):84-5. doi: 10.1002/(SICI)1098-1004(1997)10:1<84::AID-HUMU14>3.0.CO;2-W. Hum Mutat. 1997. PMID: 9222767 No abstract available.

10

Recurrent and novel LDL receptor gene mutations causing heterozygous familial hypercholesterolemia in La Habana.

Pereira E, Ferreira R, Hermelin B, Thomas G, Bernard C, Bertrand V, Nassiff H, Mendez del Castillo D, Bereziat G, Benlian P. Pereira E, et al. Hum Genet. 1995 Sep;96(3):319-22. doi: 10.1007/BF00210415. Hum Genet. 1995. PMID: 7649549

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