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Page 1
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
Bertolotto C, Lesueur F, Giuliano S, Strub T, de Lichy M, Bille K, Dessen P, d'Hayer B, Mohamdi H, Remenieras A, Maubec E, de la Fouchardière A, Molinié V, Vabres P, Dalle S, Poulalhon N, Martin-Denavit T, Thomas L, Andry-Benzaquen P, Dupin N, Boitier F, Rossi A, Perrot JL, Labeille B, Robert C, Escudier B, Caron O, Brugières L, Saule S, Gardie B, Gad S, Richard S, Couturier J, Teh BT, Ghiorzo P, Pastorino L, Puig S, Badenas C, Olsson H, Ingvar C, Rouleau E, Lidereau R, Bahadoran P, Vielh P, Corda E, Blanché H, Zelenika D, Galan P; French Familial Melanoma Study Group; Aubin F, Bachollet B, Becuwe C, Berthet P, Bignon YJ, Bonadona V, Bonafe JL, Bonnet-Dupeyron MN, Cambazard F, Chevrant-Breton J, Coupier I, Dalac S, Demange L, d'Incan M, Dugast C, Faivre L, Vincent-Fétita L, Gauthier-Villars M, Gilbert B, Grange F, Grob JJ, Humbert P, Janin N, Joly P, Kerob D, Lasset C, Leroux D, Levang J, Limacher JM, Livideanu C, Longy M, Lortholary A, Stoppa-Lyonnet D, Mansard S, Mansuy L, Marrou K, Matéus C, Maugard C, Meyer N, Nogues C, Souteyrand P, Venat-Bouvet L, Zattara H, Chaudru V, Lenoir GM, Lathrop M, Davidson I, Avril MF, Demenais F, Ballotti R, Bressac-de Paillerets B. Bertolotto C, et al. Among authors: mansuy l. Nature. 2011 Oct 19;480(7375):94-8. doi: 10.1038/nature10539. Nature. 2011. PMID: 22012259
Transmission of germline TP53 mutations from male carriers to female partners.
Patrier-Sallebert S, Bougeard G, Baert-Desurmont S, Lamy A, Flaman JM, Mansuy L, Bronner M, Lasset C, Brugières L, Golfier F, Frebourg T. Patrier-Sallebert S, et al. Among authors: mansuy l. J Med Genet. 2015 Mar;52(3):145-6. doi: 10.1136/jmedgenet-2014-102853. Epub 2015 Jan 22. J Med Genet. 2015. PMID: 25612911 No abstract available.
Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk.
Baert-Desurmont S, Charbonnier F, Houivet E, Ippolito L, Mauillon J, Bougeard M, Abadie C, Malka D, Duffour J, Desseigne F, Colas C, Pujol P, Lejeune S, Dugast C, Buecher B, Faivre L, Leroux D, Gesta P, Coupier I, Guimbaud R, Berthet P, Manouvrier S, Cauchin E, Prieur F, Laurent-Puig P, Lebrun M, Jonveaux P, Chiesa J, Caron O, Morin-Meschin ME, Polycarpe-Osaer F, Giraud S, Zaanan A, Bonnet D, Mansuy L, Bonadona V, El Chehadeh S, Duhoux F, Gauthier-Villars M, Saurin JC, Collonge-Rame MA, Brugières L, Wang Q, Bressac-de Paillerets B, Rey JM, Toulas C, Buisine MP, Bronner M, Sokolowska J, Hardouin A, Cailleux AF, Sebaoui H, Blot J, Tinat J, Benichou J, Frebourg T. Baert-Desurmont S, et al. Among authors: mansuy l. Eur J Hum Genet. 2016 Jan;24(1):99-105. doi: 10.1038/ejhg.2015.72. Epub 2015 Apr 15. Eur J Hum Genet. 2016. PMID: 25873010 Free PMC article.
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.
Renaux-Petel M, Charbonnier F, Théry JC, Fermey P, Lienard G, Bou J, Coutant S, Vezain M, Kasper E, Fourneaux S, Manase S, Blanluet M, Leheup B, Mansuy L, Champigneulle J, Chappé C, Longy M, Sévenet N, Paillerets BB, Guerrini-Rousseau L, Brugières L, Caron O, Sabourin JC, Tournier I, Baert-Desurmont S, Frébourg T, Bougeard G. Renaux-Petel M, et al. Among authors: mansuy l. J Med Genet. 2018 Mar;55(3):173-180. doi: 10.1136/jmedgenet-2017-104976. Epub 2017 Oct 25. J Med Genet. 2018. PMID: 29070607
Balanced Translocations Disrupting SMARCB1 Are Hallmark Recurrent Genetic Alterations in Renal Medullary Carcinomas.
Calderaro J, Masliah-Planchon J, Richer W, Maillot L, Maille P, Mansuy L, Bastien C, de la Taille A, Boussion H, Charpy C, Jourdain A, Bléchet C, Pierron G, Gentien D, Choudat L, Tournigand C, Delattre O, Allory Y, Bourdeaut F. Calderaro J, et al. Among authors: mansuy l. Eur Urol. 2016 Jun;69(6):1055-61. doi: 10.1016/j.eururo.2015.09.027. Epub 2015 Oct 1. Eur Urol. 2016. PMID: 26433572
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations.
Ducamp S, Kannengiesser C, Touati M, Garçon L, Guerci-Bresler A, Guichard JF, Vermylen C, Dochir J, Poirel HA, Fouyssac F, Mansuy L, Leroux G, Tertian G, Girot R, Heimpel H, Matthes T, Talbi N, Deybach JC, Beaumont C, Puy H, Grandchamp B. Ducamp S, et al. Among authors: mansuy l. Hum Mutat. 2011 Jun;32(6):590-7. doi: 10.1002/humu.21455. Epub 2011 Feb 24. Hum Mutat. 2011. PMID: 21309041
Molecular and clinicopathologic characterization of pediatric histiocytoses.
Hélias-Rodzewicz Z, Donadieu J, Terrones N, Barkaoui MA, Lambilliotte A, Moshous D, Thomas C, Azarnoush S, Pasquet M, Mansuy L, Aladjidi N, Jeziorski E, Marec-Berard P, Gilibert-Yvert M, Spiegel A, Saultier P, Pellier I, Pagnier A, Pertuisel S, Poiree M, Bodet D, Millot F, Isfan F, Stephan JL, Leruste A, Rigaud C, Filhon B, Carausu L, Reguerre Y, Kieffer I, Brichard B, Ben Jannet R, Bakari M, Idbaih A, Bodemer C, Cohen-Aubart F, Haroche J, Tazi A, Boudjemaa S, Fraitag S, Emile JF, Heritier S; French Histiocytosis Study Group. Hélias-Rodzewicz Z, et al. Among authors: mansuy l. Am J Hematol. 2023 Jul;98(7):1058-1069. doi: 10.1002/ajh.26938. Epub 2023 Apr 28. Am J Hematol. 2023. PMID: 37115038
Chemo-immunotherapy with dinutuximab beta in patients with relapsed/progressive high-risk neuroblastoma: does chemotherapy backbone matter?
Raiser P, Schleiermacher G, Gambart M, Dumont B, Defachelles AS, Thebaud E, Tandonnet J, Pasqualini C, Proust S, Entz-Werle N, Aerts I, Ndounga-Diakou LA, Petit A, Puiseux C, Khanfar C, Rouger J, Mansuy L, Benadiba J, Millot F, Pluchart C, Laghouati S, Geoerger B, Vassal G, Valteau-Couanet D, Berlanga P. Raiser P, et al. Among authors: mansuy l. Eur J Cancer. 2024 May;202:114001. doi: 10.1016/j.ejca.2024.114001. Epub 2024 Mar 11. Eur J Cancer. 2024. PMID: 38489858 Free article.
ctDNA quantification improves estimation of outcomes in patients with high-grade osteosarcoma: a translational study from the OS2006 trial.
Audinot B, Drubay D, Gaspar N, Mohr A, Cordero C, Marec-Bérard P, Lervat C, Piperno-Neumann S, Jimenez M, Mansuy L, Castex MP, Revon-Riviere G, Marie-Cardine A, Berger C, Piguet C, Massau K, Job B, Moquin-Beaudry G, Le Deley MC, Tabone MD, Berlanga P, Brugières L, Crompton BD, Marchais A, Abbou S. Audinot B, et al. Among authors: mansuy l. Ann Oncol. 2023 Dec 22:S0923-7534(23)05113-X. doi: 10.1016/j.annonc.2023.12.006. Online ahead of print. Ann Oncol. 2023. PMID: 38142939
Oral vinorelbine in young patients with desmoid-type fibromatosis.
Kornreich L, Orbach D, Nicolas N, Brisse HJ, Berlanga P, Defachelles AS, Mansuy L, Verite C, Saumet L, Karanian M, Corradini N. Kornreich L, et al. Among authors: mansuy l. Tumori. 2023 Oct;109(5):511-518. doi: 10.1177/03008916231169806. Epub 2023 Apr 28. Tumori. 2023. PMID: 37114926
158 results