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Page 1
Colon-specific phenotype in Lynch syndrome associated with EPCAM deletion.
Grandval P, Baert-Desurmont S, Bonnet F, Bronner M, Buisine MP, Colas C, Noguchi T, North MO, Rey JM, Tinat J, Toulas C, Olschwang S. Grandval P, et al. Among authors: buisine mp. Clin Genet. 2012 Jul;82(1):97-9. doi: 10.1111/j.1399-0004.2011.01826.x. Epub 2012 Jan 16. Clin Genet. 2012. PMID: 22243433 No abstract available.
Comparison of the ABC and ACMG systems for variant classification.
Houge G, Bratland E, Aukrust I, Tveten K, Žukauskaitė G, Sansovic I, Brea-Fernández AJ, Mayer K, Paakkola T, McKenna C, Wright W, Markovic MK, Lildballe DL, Konecny M, Smol T, Alhopuro P, Gouttenoire EA, Obeid K, Todorova A, Jankovic M, Lubieniecka JM, Stojiljkovic M, Buisine MP, Haukanes BI, Lorans M, Roomere H, Petit FM, Haanpää MK, Beneteau C, Pérez B, Plaseska-Karanfilska D, Rath M, Fuhrmann N, Ferreira BI, Stephanou C, Sjursen W, Maver A, Rouzier C, Chirita-Emandi A, Gonçalves J, Kuek WCD, Broly M, Haer-Wigman L, Thong MK, Tae SK, Hyblova M, den Dunnen JT, Laner A. Houge G, et al. Among authors: buisine mp. Eur J Hum Genet. 2024 Jul;32(7):858-863. doi: 10.1038/s41431-024-01617-8. Epub 2024 May 22. Eur J Hum Genet. 2024. PMID: 38778080 Free PMC article.
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
Leclerc J, Beaumont M, Vibert R, Pinson S, Vermaut C, Flament C, Lovecchio T, Delattre L, Demay C, Coulet F, Guillerm E, Hamzaoui N, Benusiglio PR, Brahimi A, Cornelis F, Delhomelle H, Fert-Ferrer S, Fournier BPJ, Hovnanian A, Legrand C, Lortholary A, Malka D, Petit F, Saurin JC, Lejeune S, Colas C, Buisine MP. Leclerc J, et al. Among authors: buisine mp. Genes Chromosomes Cancer. 2023 Apr;62(4):210-222. doi: 10.1002/gcc.23112. Epub 2022 Dec 21. Genes Chromosomes Cancer. 2023. PMID: 36502525 Free PMC article.
Management of Pathogenic CDH1 Variant Carriers Within the FREGAT Network: A Multicentric Retrospective Study.
Bres C, Voron T, Benhaim L, Bergeat D, Parc Y, Karoui M, Genser L, Péré G, Demma JA, Bacoeur-Ouzillou O, Lebreton G, Thereaux J, Gronnier C, Dartigues P, Svrcek M, Bouzillé G, Bardier A, Brunac AC, Roche B, Darcha C, Bazille C, Doucet L, Belleannee G, Lejeune S, Buisine MP, Renaud F, Nuytens F, Benusiglio PR, Veziant J, Eveno C, Piessen G. Bres C, et al. Among authors: buisine mp. Ann Surg. 2022 Nov 1;276(5):830-837. doi: 10.1097/SLA.0000000000005626. Epub 2022 Jul 20. Ann Surg. 2022. PMID: 35856494 Free article.
Assembly and organization of the N-terminal region of mucin MUC5AC: Indications for structural and functional distinction from MUC5B.
Carpenter J, Wang Y, Gupta R, Li Y, Haridass P, Subramani DB, Reidel B, Morton L, Ridley C, O'Neal WK, Buisine MP, Ehre C, Thornton DJ, Kesimer M. Carpenter J, et al. Among authors: buisine mp. Proc Natl Acad Sci U S A. 2021 Sep 28;118(39):e2104490118. doi: 10.1073/pnas.2104490118. Proc Natl Acad Sci U S A. 2021. PMID: 34548396 Free PMC article.
Performance of Next-Generation Sequencing for the Detection of Microsatellite Instability in Colorectal Cancer With Deficient DNA Mismatch Repair.
Ratovomanana T, Cohen R, Svrcek M, Renaud F, Cervera P, Siret A, Letourneur Q, Buhard O, Bourgoin P, Guillerm E, Dorard C, Nicolle R, Ayadi M, Touat M, Bielle F, Sanson M, Le Rouzic P, Buisine MP, Piessen G, Collura A, Fléjou JF, de Reyniès A, Coulet F, Ghiringhelli F, André T, Jonchère V, Duval A. Ratovomanana T, et al. Among authors: buisine mp. Gastroenterology. 2021 Sep;161(3):814-826.e7. doi: 10.1053/j.gastro.2021.05.007. Epub 2021 May 13. Gastroenterology. 2021. PMID: 33992635
Further delineation of the NTHL1 associated syndrome: A report from the French Oncogenetic Consortium.
Boulouard F, Kasper E, Buisine MP, Lienard G, Vasseur S, Manase S, Bahuau M, Barouk Simonet E, Bubien V, Coulet F, Cusin V, Dhooge M, Golmard L, Goussot V, Hamzaoui N, Lacaze E, Lejeune S, Mauillon J, Beaumont MP, Pinson S, Tlemsani C, Toulas C, Rey JM, Uhrhammer N, Bougeard G, Frebourg T, Houdayer C, Baert-Desurmont S. Boulouard F, et al. Among authors: buisine mp. Clin Genet. 2021 May;99(5):662-672. doi: 10.1111/cge.13925. Epub 2021 Feb 12. Clin Genet. 2021. PMID: 33454955
Identification and management of Lynch syndrome in the Middle East and North African countries: outcome of a survey in 12 countries.
Sina M, Ghorbanoghli Z, Abedrabbo A, Al-Mulla F, Sghaier RB, Buisine MP, Cortas G, Goshayeshi L, Hadjisavvas A, Hammoudeh W, Hamoudi W, Jabari C, Loizidou MA, Majidzadeh-A K, Marafie MJ, Muslumov G, Rifai L, Seir RA, Talaat SM, Tunca B, Ziada-Bouchaar H, Velthuizen ME, Sharara AI, Ahadova A, Georgiou D, Vasen HFA; Middle East Network on Hereditary Colorectal Cancer (HCCN-ME). Sina M, et al. Among authors: buisine mp. Fam Cancer. 2021 Jul;20(3):215-221. doi: 10.1007/s10689-020-00211-3. Epub 2020 Oct 24. Fam Cancer. 2021. PMID: 33098072 Free PMC article.
107 results