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Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.
- Published in:
- Nature Genetics, 2010, v. 42, n. 11, p. 973, doi. 10.1038/ng.670
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- Publication type:
- Article
Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors.
- Published in:
- Nature Genetics, 2002, v. 30, n. 2, p. 227, doi. 10.1038/ng828
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- Publication type:
- Article
Germline variation in RASAL2 may predict survival in patients with RAS‐activated colorectal cancer.
- Published in:
- Genes, Chromosomes & Cancer, 2023, v. 62, n. 6, p. 332, doi. 10.1002/gcc.23133
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- Publication type:
- Article
Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma.
- Published in:
- Human Genetics, 2004, v. 114, n. 2, p. 207, doi. 10.1007/s00439-003-1033-2
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- Publication type:
- Article
Molecular analysis of the TSC1 and TSC2 tumour suppressor genes in sporadic glial and glioneuronal tumours.
- Published in:
- Human Genetics, 2000, v. 107, n. 4, p. 350, doi. 10.1007/s004390000390
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- Publication type:
- Article
Molecular genetic advances in tuberous sclerosis.
- Published in:
- Human Genetics, 2000, v. 107, n. 2, p. 97, doi. 10.1007/s004390000348
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- Publication type:
- Article
Application and evaluation of denaturing HPLC for molecular genetic analysis in tuberous sclerosis.
- Published in:
- Human Genetics, 2000, v. 106, n. 6, p. 663, doi. 10.1007/s004390000316
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- Publication type:
- Article
Tuberous sclerosis causing mutants of the TSC2 gene product affect proliferation and p27 expression.
- Published in:
- Oncogene, 2001, v. 20, n. 35, p. 4904, doi. 10.1038/sj.onc.1204627
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- Publication type:
- Article
The tuberous sclerosis-1 (TSC1) gene product hamartin suppresses cell growth and augments the expression of the TSC2 product tuberin by inhibiting its ubiquitination.
- Published in:
- Oncogene, 2000, v. 19, n. 54, p. 6306, doi. 10.1038/sj.onc.1204009
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- Publication type:
- Article
Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposis.
- Published in:
- Nucleic Acids Research, 2005, v. 33, n. 2, p. 597, doi. 10.1093/nar/gki209
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- Publication type:
- Article
Genetic variation in ST6GAL1 is a determinant of capecitabine and oxaliplatin induced hand‐foot syndrome.
- Published in:
- International Journal of Cancer, 2022, v. 151, n. 6, p. 957, doi. 10.1002/ijc.34046
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- Publication type:
- Article
Genome‐wide association studies of toxicity to oxaliplatin and fluoropyrimidine chemotherapy with or without cetuximab in 1800 patients with advanced colorectal cancer.
- Published in:
- International Journal of Cancer, 2021, v. 149, n. 9, p. 1713, doi. 10.1002/ijc.33739
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- Publication type:
- Article
Common genetic variation and survival after colorectal cancer diagnosis: a genome-wide analysis.
- Published in:
- Carcinogenesis, 2016, v. 37, n. 1, p. 87, doi. 10.1093/carcin/bgv161
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- Publication type:
- Article
Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer.
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- International Journal of Cancer, 2004, v. 109, n. 4, p. 554
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- Publication type:
- Article
Cognitive deficits in Tsc1<sup>+/−</sup>mice in the absence of cerebral lesions and seizures.
- Published in:
- Annals of Neurology, 2007, v. 62, n. 6, p. 648, doi. 10.1002/ana.21317
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- Publication type:
- Article
Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 4, p. 934, doi. 10.1093/hmg/ddr523
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- Publication type:
- Article
Lack of an association between gallstone disease and bilirubin levels with risk of colorectal cancer: a Mendelian randomisation analysis.
- Published in:
- 2021
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- Publication type:
- journal article
Genomic organization and comparative analysis of the mouse tuberous sclerosis 1 (Tsc1) locus.
- Published in:
- Mammalian Genome, 2000, v. 11, n. 12, p. 1135, doi. 10.1007/s003350010203
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- Publication type:
- Article
Exome Resequencing Identifies Potential Tumor-Suppressor Genes that Predispose to Colorectal Cancer.
- Published in:
- Human Mutation, 2013, v. 34, n. 7, p. 1026, doi. 10.1002/humu.22333
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- Publication type:
- Article
The APC Variant p.Glu1317Gln predisposes to colorectal adenomas by a novel mechanism of relaxing the target for tumorigenic somatic APC mutations.
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- Human Mutation, 2009, v. 30, n. 10, p. 1412, doi. 10.1002/humu.21089
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- Publication type:
- Article
Rapid recognition of aberrant dHPLC elution profiles using the Transgenomic Navigator<sup>TM</sup> software.
- Published in:
- Human Mutation, 2005, v. 26, n. 2, p. 165, doi. 10.1002/humu.9354
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- Publication type:
- Article
Defects in cell polarity underlie TSC and ADPKD-associated cystogenesis.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 12, p. 2166, doi. 10.1093/hmg/ddp149
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- Publication type:
- Article
A mouse model of tuberous sclerosis 1 showing background specific early post-natal mortality and metastatic renal cell carcinoma.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 13, p. 1839, doi. 10.1093/hmg/ddi190
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- Publication type:
- Article
Exposing the MYtH about base excision repair and human inherited disease.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 2, p. 159, doi. 10.1093/hmg/ddg259
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- Publication type:
- Article
Exposing the MYtH about base excision repair and human inherited disease.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. suppl_2, p. R159, doi. 10.1093/hmg/ddg259
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- Publication type:
- Article
Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C→T:A mutations.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 23, p. 2961, doi. 10.1093/hmg/11.23.2961
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- Publication type:
- Article
Pathological mutations in TSC1 and TSC2 disrupt the interaction between hamartin andtuberin.
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- Human Molecular Genetics, 2001, v. 10, n. 25, p. 2899, doi. 10.1093/hmg/10.25.2899
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- Publication type:
- Article
Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.
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- Human Molecular Genetics, 2000, v. 9, n. 15, p. 2215, doi. 10.1093/oxfordjournals.hmg.a018912
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- Publication type:
- Article
Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 7, p. 1119, doi. 10.1093/hmg/9.7.1119
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- Publication type:
- Article
Characterizing mutations in samples with low-level mosaicism by collection and analysis of DHPLC fractionated heteroduplexes.
- Published in:
- Human Mutation, 2003, v. 21, n. 2, p. 112, doi. 10.1002/humu.10159
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- Publication type:
- Article
Low level mosaicism detectable by DHPLC but not by direct sequencing.
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- Human Mutation, 2001, v. 17, n. 3, p. 233, doi. 10.1002/humu.8
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- Publication type:
- Article
Cystic fibrosis mutation analysis: Report from 22 U.K. regional genetics laboratories.
- Published in:
- Human Mutation, 1995, v. 6, n. 4, p. 326, doi. 10.1002/humu.1380060406
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- Publication type:
- Article
Re: Role of the Oxidative DNA Damage Repair Gene OGG1 in Colorectal Tumorigenesis.
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- 2014
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- Publication type:
- Letter to the Editor
Response.
- Published in:
- 2014
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- Publication type:
- Letter
Role of the Oxidative DNA Damage Repair Gene OGG1 in Colorectal Tumorigenesis.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2013, v. 105, n. 16, p. 1249, doi. 10.1093/jnci/djt183
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- Publication type:
- Article
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products.
- Published in:
- Human Molecular Genetics, 1998, v. 7, n. 6, p. 1053, doi. 10.1093/hmg/7.6.1053
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- Publication type:
- Article
The GAP-Related Domain of Tuberin, the Product of the TSC2 Gene, is a Target for Missense Mutations in Tuberous Sclerosis.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 11, p. 1991, doi. 10.1093/hmg/6.11.1991
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- Publication type:
- Article
Molecular Genetic and Phenotypic Analysis Reveals Differences between TSC1 and TSC2 Associated Familial and Sporadic Tuberous Sclerosis.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 12, p. 2155, doi. 10.1093/hmg/6.12.2155
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- Publication type:
- Article
Comparative Analysis and Genomic Structure of the Tuberous Sclerosis 2 (TSC2) Gene in Human and Pufferfish.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 1, p. 131, doi. 10.1093/hmg/5.1.131
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- Publication type:
- Article
A novel mutation (M1V) in the translation initiation codon of the cystic fibrosis transmembrane conductance regulator gene, in three CF chromosomes of Italian origin.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1431
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- Publication type:
- Article
Direct sequencing of the complete CFTR gene: the molecular characterisation of 99.5% of CF chromosomes in Wales.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1551
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- Publication type:
- Article
A novel nonsense mutation, W846XI (amber termination), in exon 14a of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 7, p. 1067
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- Publication type:
- Article
Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 3, p. 317
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- Publication type:
- Article
A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.
- Published in:
- Human Molecular Genetics, 1992, v. 1, n. 2, p. 123
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- Publication type:
- Article