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Page 1
Features of colorectal adenomas among young patients with Lynch syndrome according to path_MMR: Results from the PRED-IdF registry.
Alric H, Coffin E, Lekhal C, Benusiglio PR, Dhooge M, Colas C, Caron O, Cusin V, Becq A, Perez Cuadrado Robles E, Leenhardt R, Perkins G, Buecher B, Bellanger J, Rahmi G, Malka D, Laurent-Puig P, Chaussade S, Benamouzig R, Parc Y, Cellier C, Perrod G. Alric H, et al. Among authors: cusin v. Dig Liver Dis. 2024 Apr;56(4):672-678. doi: 10.1016/j.dld.2023.09.010. Epub 2023 Sep 25. Dig Liver Dis. 2024. PMID: 37758611
Cerebral dural arteriovenous fistulas in patients with PTEN-related hamartoma tumor syndrome.
Gerasimenko A, Mignot C, Naggara O, Coulet F, Ekram S, Heide S, Sorato C, Mazowiecki M, Perrin L, Colas C, Cusin V, Caux F, Dardenne A, El Chehadeh S, Verloes A, Maurey H, Afenjar A, Petit F, Barete S, Boespflug-Tanguy O, Bourrat E, Capri Y, Ciorna V, Deb W, Doummar D, Perrier A, Guédon A, Houdart E, Isidor B, Jacquemont ML, Buffet C, Mercier S, Passemard S, Riquet A, Ruaud L, Schaefer E, Heron D, Bisdorff A, Benusiglio PR. Gerasimenko A, et al. Among authors: cusin v. Clin Genet. 2024 Feb 29. doi: 10.1111/cge.14515. Online ahead of print. Clin Genet. 2024. PMID: 38424388
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach.
Caputo SM, Golmard L, Léone M, Damiola F, Guillaud-Bataille M, Revillion F, Rouleau E, Derive N, Buisson A, Basset N, Schwartz M, Vilquin P, Garrec C, Privat M, Gay-Bellile M, Abadie C, Abidallah K, Airaud F, Allary AS, Barouk-Simonet E, Belotti M, Benigni C, Benusiglio PR, Berthemin C, Berthet P, Bertrand O, Bézieau S, Bidart M, Bignon YJ, Birot AM, Blanluet M, Bloucard A, Bombled J, Bonadona V, Bonnet F, Bonnet-Dupeyron MN, Boulaire M, Boulouard F, Bouras A, Bourdon V, Brahimi A, Brayotel F, Bressac de Paillerets B, Bronnec N, Bubien V, Buecher B, Cabaret O, Carriere J, Chiesa J, Chieze-Valéro S, Cohen C, Cohen-Haguenauer O, Colas C, Collonge-Rame MA, Conoy AL, Coulet F, Coupier I, Crivelli L, Cusin V, De Pauw A, Dehainault C, Delhomelle H, Delnatte C, Demontety S, Denizeau P, Devulder P, Dreyfus H, d'Enghein CD, Dupré A, Durlach A, Dussart S, Fajac A, Fekairi S, Fert-Ferrer S, Fiévet A, Fouillet R, Mouret-Fourme E, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Goldbarg V, Goussot V, Guibert V, Guillerm E, Guy C, Hardouin A, Heude C, Houdayer C, Ingster O, Jacquot-Sawka C, Jones N, Krieger S, Lacoste S, Lallaoui H, Larbre H, Laugé A, Le Guyadec G, Le Mentec M, Lecerf… See abstract for full author list ➔ Caputo SM, et al. Among authors: cusin v. Am J Hum Genet. 2021 Oct 7;108(10):1907-1923. doi: 10.1016/j.ajhg.2021.09.003. Epub 2021 Sep 30. Am J Hum Genet. 2021. PMID: 34597585 Free PMC article.
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: cusin v. Clin Genet. 2021 May;99(5):662-672. doi: 10.1111/cge.13925. Epub 2021 Feb 12. Clin Genet. 2021. PMID: 33454955
Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.
Benusiglio PR, Colas C, Guillerm E, Canard A, Delhomelle H, Warcoin M, Bellanger J, Eyries M, Zizi M, Netter J, Soubrier F, Parc Y, Mourregot A, Maran Gonzalez A, Cusin V, Denis JA, Coupier I, Svrcek M, Coulet F. Benusiglio PR, et al. Among authors: cusin v. Gastric Cancer. 2019 Jul;22(4):899-903. doi: 10.1007/s10120-018-00907-7. Epub 2018 Dec 4. Gastric Cancer. 2019. PMID: 30515673 Free article.
[The French Genetic and Cancer Consortium guidelines for multigene panel analysis in hereditary breast and ovarian cancer predisposition].
Moretta J, Berthet P, Bonadona V, Caron O, Cohen-Haguenauer O, Colas C, Corsini C, Cusin V, De Pauw A, Delnatte C, Dussart S, Jamain C, Longy M, Luporsi E, Maugard C, Nguyen TD, Pujol P, Vaur D, Andrieu N, Lasset C, Noguès C; Groupe Génétique et Cancer d’Unicancer. Moretta J, et al. Among authors: cusin v. Bull Cancer. 2018 Oct;105(10):907-917. doi: 10.1016/j.bulcan.2018.08.003. Epub 2018 Sep 27. Bull Cancer. 2018. PMID: 30268633 French.
Early-onset osteoarthritis, Charcot-Marie-Tooth like neuropathy, autoimmune features, multiple arterial aneurysms and dissections: an unrecognized and life threatening condition.
Aubart M, Gobert D, Aubart-Cohen F, Detaint D, Hanna N, d'Indya H, Lequintrec JS, Renard P, Vigneron AM, Dieudé P, Laissy JP, Koch P, Muti C, Roume J, Cusin V, Grandchamp B, Gouya L, LeGuern E, Papo T, Boileau C, Jondeau G. Aubart M, et al. Among authors: cusin v. PLoS One. 2014 May 7;9(5):e96387. doi: 10.1371/journal.pone.0096387. eCollection 2014. PLoS One. 2014. PMID: 24804794 Free PMC article.
Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.
Callier P, Aral B, Hanna N, Lambert S, Dindy H, Ragon C, Payet M, Collod-Beroud G, Carmignac V, Delrue MA, Goizet C, Philip N, Busa T, Dulac Y, Missotte I, Sznajer Y, Toutain A, Francannet C, Megarbane A, Julia S, Edouard T, Sarda P, Amiel J, Lyonnet S, Cormier-Daire V, Gilbert B, Jacquette A, Heron D, Collignon P, Lacombe D, Morice-Picard F, Jouk PS, Cusin V, Willems M, Sarrazin E, Amarof K, Coubes C, Addor MC, Journel H, Colin E, Khau Van Kien P, Baumann C, Leheup B, Martin-Coignard D, Doco-Fenzy M, Goldenberg A, Plessis G, Thevenon J, Pasquier L, Odent S, Vabres P, Huet F, Marle N, Mosca-Boidron AL, Mugneret F, Gauthier S, Binquet C, Thauvin-Robinet C, Jondeau G, Boileau C, Faivre L. Callier P, et al. Among authors: cusin v. Clin Genet. 2013 Dec;84(6):507-21. doi: 10.1111/cge.12094. Epub 2013 Mar 18. Clin Genet. 2013. PMID: 23506379 Free article.
What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?
Coron F, Rousseau T, Jondeau G, Gautier E, Binquet C, Gouya L, Cusin V, Odent S, Dulac Y, Plauchu H, Collignon P, Delrue MA, Leheup B, Joly L, Huet F, Thevenon J, Mace G, Cassini C, Thauvin-Robinet C, Wolf JE, Hanna N, Sagot P, Boileau C, Faivre L. Coron F, et al. Among authors: cusin v. Prenat Diagn. 2012 Dec;32(13):1318-23. doi: 10.1002/pd.4008. Epub 2012 Nov 13. Prenat Diagn. 2012. PMID: 23147988
32 results