MSH3: a confirmed predisposing gene for adenomatous polyposis
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Y. Allory | S. Vacher | I. Bièche | J. Cucherousset | D. Stoppa-Lyonnet | R. Benamouzig | B. Buecher | V. Suybeng | A. Schnitzler | C. Colas | L. Golmard | M. Bahuau | C. Corsini | N. Hamzaoui | M. Villy | Maud Blanluet | S. Melaabi | M. Dhooge | Hélène Delhomelle | Mathilde Filser | J. Masliah-Planchon | Vincent Caumette | Kevin Merchadou | Solenne Farelly | Amal Ait Omar
[1] E. Dekker,et al. A large family with MSH3-related polyposis , 2022, Familial Cancer.
[2] Ruibang Luo,et al. Symphonizing pileup and full-alignment for deep learning-based long-read variant calling , 2021, bioRxiv.
[3] Jordan M. Eizenga,et al. Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads , 2021, Nature Methods.
[4] M. Stratton,et al. Life without mismatch repair , 2021, bioRxiv.
[5] W. Foulkes,et al. Diagnostic criteria for constitutional mismatch repair deficiency (CMMRD): recommendations from the international consensus working group , 2021, Journal of Medical Genetics.
[6] Li Fang,et al. NanoCaller for accurate detection of SNPs and indels in difficult-to-map regions from long-read sequencing by haplotype-aware deep neural networks , 2019, Genome Biology.
[7] Heng Li,et al. Minimap2: pairwise alignment for nucleotide sequences , 2017, Bioinform..
[8] M. Nöthen,et al. Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. , 2016, American journal of human genetics.
[9] Matthew Loose,et al. Real-time selective sequencing using nanopore technology , 2016, Nature Methods.
[10] H. Blanché,et al. Diagnosis of Constitutional Mismatch Repair-Deficiency Syndrome Based on Microsatellite Instability and Lymphocyte Tolerance to Methylating Agents. , 2015, Gastroenterology.
[11] Bale,et al. Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.
[12] Kory Jasperson,et al. APC-Associated Polyposis Conditions , 2014 .
[13] J. Saurin,et al. French experts report on MUTYH-associated polyposis (MAP) , 2012, Familial Cancer.
[14] Wei Yang,et al. Mechanism of mismatch recognition revealed by human MutSβ bound to unpaired DNA loops , 2011, Nature Structural &Molecular Biology.
[15] H T Lynch,et al. Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications , 2009, Clinical genetics.
[16] C. Boland,et al. Genetic instability caused by loss of MutS homologue 3 in human colorectal cancer. , 2008, Cancer research.
[17] S. J. Burger,et al. Elevated microsatellite instability at selected tetranucleotide repeats does not correlate with clinicopathologic features of bladder cancer. , 2006, European urology.
[18] Sudhir Srivastava,et al. Revised Bethesda Guidelines for hereditary nonpolyposis colorectal cancer (Lynch syndrome) and microsatellite instability. , 2004, Journal of the National Cancer Institute.
[19] J. Carethers. HEREDITARY, SPORADIC AND METASTATIC COLORECTAL CANCER ARE COMMONLY DRIVEN BY SPECIFIC SPECTRUMS OF DEFECTIVE DNA MISMATCH REPAIR COMPONENTS. , 2016, Transactions of the American Clinical and Climatological Association.