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Long-read sequence analysis of the MECP2 gene in Rett syndrome patients : correlation of disease severity with mutation type and location

Human molecular genetics, 2000-04, Vol.9 (7), p.1119-1129

2000

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Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas

British journal of cancer, 2004-04, Vol.90 (8), p.1591-1593

2004

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MutYH (MYH) and colorectal cancer

Biochemical Society transactions, 2005-08, Vol.33 (Pt 4), p.679-683

2005

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Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis

American journal of human genetics, 1999-05, Vol.64 (5), p.1305-1315

1999

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Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3

Gut, 2008-09, Vol.57 (9), p.1252-1255

2008

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Optimal Temperature Selection for Mutation Detection by Denaturing HPLC and Comparison to Single-Stranded Conformation Polymorphism and Heteroduplex Analysis

Clinical chemistry (Baltimore, Md.), 1999-08, Vol.45 (8), p.1133-1140

1999

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Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis

Human molecular genetics, 1997-11, Vol.6 (12), p.2155-2161

1997

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Exposing the MYtH about base excision repair and human inherited disease

Human molecular genetics, 2003-10, Vol.12 (suppl-2), p.R159-R165

2003

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The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis

Human molecular genetics, 1997-10, Vol.6 (11), p.1991-1996

1997

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Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene

American journal of human genetics, 1997-10, Vol.61 (4), p.843-851

1997

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Common and rare DPYD variants are predictive for 5FU/capecitabine (5FU) toxicity: The MRC COIN and COIN-B trials

Annals of oncology, 2018-10, Vol.29, p.viii22-viii22

2018

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Inherited defects in the DNA glycosylase MYH cause multiple colorectal adenoma and carcinoma

Carcinogenesis (New York), 2003-07, Vol.24 (7), p.1281-1282

2003

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Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas

British journal of cancer, 2001-10, Vol.85 (8), p.1226-1230

2001

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Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome

Journal of medical genetics, 2003-05, Vol.40 (5), p.380-384

2003

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Molecular genetic advances in tuberous sclerosis

Human genetics, 2000-08, Vol.107 (2), p.97-114

2000

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Molecular analysis and clinical correlations of the Huntington's disease mutation

The Lancet (British edition), 1993-10, Vol.342 (8877), p.954-958

1993

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The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination

Oncogene, 2000-12, Vol.19 (54), p.6306-6316

2000

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Comparative Analysis and Genomic Structure of the Tuberous Sclerosis 2 (TSC2) Gene in Human and Pufferfish

Human molecular genetics, 1996-01, Vol.5 (1), p.131-137

1996

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Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

Nature genetics, 1993-08, Vol.4 (4), p.393-397

1993

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Cloning and Characterization of a Functional Human Homolog of Escherichia coli Endonuclease III

Proceedings of the National Academy of Sciences - PNAS, 1997-01, Vol.94 (1), p.109-114

1997

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Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin

Human molecular genetics, 2001-12, Vol.10 (25), p.2899-2905

2001

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Analysis of inherited MYH/(MutYH) mutations in British Asian patients with colorectal cancer

Gut, 2007-04, Vol.56 (4), p.593-593

2007

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Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis

Human genetics, 2000-06, Vol.106 (6), p.663-668

2000

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MUTYH-associated polyposis—From defect in base excision repair to clinical genetic testing

DNA repair, 2007-03, Vol.6 (3), p.274-279

2007

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Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression

Oncogene, 2001-08, Vol.20 (35), p.4904-4909

2001

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Long-read sequence analysis of the MECP2 gene in Rett syndrome patients : correlation of disease severity with mutation type and location

Increased frequency of the k-ras G12C mutation in MYH polyposis colorectal adenomas

MutYH (MYH) and colorectal cancer

Comprehensive Mutation Analysis of TSC1 and TSC2—and Phenotypic Correlations in 150 Families with Tuberous Sclerosis

Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3

Optimal Temperature Selection for Mutation Detection by Denaturing HPLC and Comparison to Single-Stranded Conformation Polymorphism and Heteroduplex Analysis

Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis

Exposing the MYtH about base excision repair and human inherited disease

The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis

Renal Cystic Disease in Tuberous Sclerosis: Role of the Polycystic Kidney Disease 1 Gene

Common and rare DPYD variants are predictive for 5FU/capecitabine (5FU) toxicity: The MRC COIN and COIN-B trials

Inherited defects in the DNA glycosylase MYH cause multiple colorectal adenoma and carcinoma

Analysis of the TSC1 and TSC2 genes in sporadic renal cell carcinomas

Mutation analysis in the MECP2 gene and genetic counselling for Rett syndrome

Molecular genetic advances in tuberous sclerosis

Molecular analysis and clinical correlations of the Huntington's disease mutation

The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination

Comparative Analysis and Genomic Structure of the Tuberous Sclerosis 2 (TSC2) Gene in Human and Pufferfish

Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease

Cloning and Characterization of a Functional Human Homolog of Escherichia coli Endonuclease III

Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin and tuberin

Analysis of inherited MYH/(MutYH) mutations in British Asian patients with colorectal cancer

Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis

MUTYH-associated polyposis—From defect in base excision repair to clinical genetic testing

Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression

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