By Professor Susan Ramus

Journal articles

Ramus SJ; Forrest SM; Pitt DD; Cotton RGH, 1999, 'Genotype and intellectual phenotype in untreated phenylketonuria patients', Pediatric Research, 45, pp. 474 - 481, http://dx.doi.org/10.1203/00006450-199904010-00004

Gayther SA; Gorringe KL; Ramus SJ; Huntsman D; Roviello F; Grehan N; Machado JC; Pinto E; Seruca R; Halling K; MacLeod P; Powell SM; Jackson CE; Ponder BAJ; Caldas C, 1998, 'Identification of germ-line E-cadherin mutations in gastric cancer families of European origin', Cancer Research, 58, pp. 4086 - 4089

Ramus SJ; Kote-Jarai Z; Friedman LS; Van Der Looij M; Gayther SA; Csokay B; Ponder BAJ; Olah E, 1997, 'Analysis of BRCA1 and BRCA2 mutations in hungarian families with breast or breast-ovarian cancer [4]', American Journal of Human Genetics, 60, pp. 1242 - 1246

Ramus SJ; Friedman LS; Gayther SA; Ponder BAJ; Bobrow LG; Looji MVD; Papp J; Olah E, 1997, 'A breast/ovarian cancer patient with germline mutations in both BRCA1 and BRCA2', Nature Genetics, 15, pp. 14 - 15, http://dx.doi.org/10.1038/ng0197-14

Treacy E; Pitt JJ; Seller K; Thompson GN; Ramus S; Cotton RGH, 1996, 'In vivo disposal of phenylalanine in phenylketonuria: A study of two siblings', JOURNAL OF INHERITED METABOLIC DISEASE, 19, pp. 595 - 602, http://dx.doi.org/10.1007/BF01799832

Ramus SJ; Cotton RGH, 1996, 'Single-tube chemical cleavage of mismatch: Successive treatment with hydroxylamine and osmium tetroxide', BioTechniques, 21, pp. 216 - 220, http://dx.doi.org/10.2144/96212bm10

Ramus SJ; Cotton RGH, 1995, 'Polymorphism in the 3′ untranslated region of the phenylalanine hydroxylase gene detected by enzyme mismatch cleavage: evolution of haplotypes', Human Genetics, 96, pp. 741 - 743, http://dx.doi.org/10.1007/BF00210312

Ramus SJ; Treacy EP; Cotton RGH, 1995, 'Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: Origin of alleles and haplotypes', American Journal of Human Genetics, 56, pp. 1034 - 1041

Ramus SJ; Pitt DB; Cotton RGH, 1995, 'Genotype/phenotype correlations: Intellectual phenotypes in untreated PKU patients', International Pediatrics, 10, pp. 92 - 94

Ramus SJ; Cotton RGH, 1995, 'Mutations Ivs4nt1, 47delCT, and G148S identified in the phenylalanine hydroxylase gene by RT‐PCR of illegitimate transcripts and chemical cleavage of mismatch', Human Mutation, 6, pp. 250 - 251, http://dx.doi.org/10.1002/humu.1380060309

Cotton RGH; Dahl HHM; Forrest S; Howells DW; Ramus SJ; Bishop RE; Dianzani I; Saleeba JA; Palombo E; Anderson MJ; Milner CM; Campbell RD, 1993, 'Analysis of Sequence Contexts Flanking T·G Mismatches Leads to Predictions about Reactivity of the Mismatched T to Osmium Tetroxide', DNA and Cell Biology, 12, pp. 945 - 949, http://dx.doi.org/10.1089/dna.1993.12.945

Ramus SJ; Forrest SM; Pitt DB; Saleeba JA; Cotton RGH, 1993, 'Comparison of genotype and intellectual phenotype in untreated PKU patients', Journal of Medical Genetics, 30, pp. 401 - 405, http://dx.doi.org/10.1136/jmg.30.5.401

Dianzani I; Camaschella C; Saglio G; Ferrero GB; Ramus S; Ponzone A; Cotton RGH, 1993, 'Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: Identification of a new PKU mutation', Journal of Medical Genetics, 30, pp. 228 - 231, http://dx.doi.org/10.1136/jmg.30.3.228

Ramus SJ; Forrest SM; Saleeba JA; Cotton RGH, 1992, 'CpG hotspot causes second mutation in codon 408 of the phenylalanine hydroxylase gene', Human Genetics, 90, pp. 147 - 148, http://dx.doi.org/10.1007/BF00210760

Saleeba JA; Ramus SJ; Cotton RGH, 1992, 'Complete mutation detection using unlabeled chemical cleavage', Human Mutation, 1, pp. 63 - 69, http://dx.doi.org/10.1002/humu.1380010110

Ramus SJ; Forrest SM; Cotton RGH, 1992, 'Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria', Human Mutation, 1, pp. 154 - 158, http://dx.doi.org/10.1002/humu.1380010211

Dianzani I; Ramus S; Cotton RGH; Camaschella C, 1991, 'A SPONTANEOUS MUTATION CAUSING UNSTABLE Hb HAMMERSMITH: DETECTION OF THE β42 TTT→TCT CHANGE BY CCM AND DIRECT SEQUENCING', British Journal of Haematology, 79, pp. 127 - 129, http://dx.doi.org/10.1111/j.1365-2141.1991.tb08026.x

Dianzani I; Camaschella C; Saglio G; Forrest SM; Ramus S; Cotton RGH, 1991, 'Simultaneous screening for β-thalassemia mutations by chemical cleavage of mismatch', Genomics, 11, pp. 48 - 53, http://dx.doi.org/10.1016/0888-7543(91)90100-S

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