Found: 13
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MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 923, doi. 10.1038/ejhg.2012.309
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- Article
Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.
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- PLoS ONE, 2021, v. 16, n. 11, p. 1, doi. 10.1371/journal.pone.0259185
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- Article
Genotype Pattern Mining for Pairs of Interacting Variants Underlying Digenic Traits.
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- Genes, 2021, v. 12, n. 8, p. 1160, doi. 10.3390/genes12081160
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- Article
Leveling the Playing Field in Homozygosity Mapping Using Map Distances.
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- Annals of Human Genetics, 2015, v. 79, n. 5, p. 366, doi. 10.1111/ahg.12125
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- Article
Exome sequencing identifies potential novel candidate genes in patients with unexplained colorectal adenomatous polyposis.
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- Familial Cancer, 2016, v. 15, n. 2, p. 281, doi. 10.1007/s10689-016-9870-z
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- Article
Shared genomic segment analysis with equivalence testing.
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- Genetic Epidemiology, 2020, v. 44, n. 7, p. 741, doi. 10.1002/gepi.22335
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- Article
Heterozygosity mapping for human dominant trait variants.
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- Human Mutation, 2019, v. 40, n. 7, p. 996, doi. 10.1002/humu.23765
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- Article
Deep intronic APC mutations explain a substantial proportion of patients with familial or early-onset adenomatous polyposis.
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- Human Mutation, 2012, v. 33, n. 7, p. 1045, doi. 10.1002/humu.22082
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- Article
Copy number variation analysis and targeted NGS in 77 families with suspected Lynch syndrome reveals novel potential causative genes.
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- International Journal of Cancer, 2018, v. 143, n. 11, p. 2800, doi. 10.1002/ijc.31725
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- Article
Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas.
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- International Journal of Cancer, 2015, v. 137, n. 2, p. 320, doi. 10.1002/ijc.29396
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- Article
Genome-wide CNV analysis in 221 unrelated patients and targeted high-throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis.
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- International Journal of Cancer, 2015, v. 136, n. 6, p. E578, doi. 10.1002/ijc.29215
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- Article
Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS).
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- Hereditary Cancer in Clinical Practice, 2017, v. 15, p. 1, doi. 10.1186/s13053-017-0082-9
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- Article
A distinct APC pathogenic germline variant identified in a southern Thai family with familial adenomatous polyposis.
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- BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00933-y
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- Article