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Page 1
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
Li-Fraumeni-associated osteosarcomas: The French experience.
Saucier E, Bougeard G, Gomez-Mascard A, Schramm C, Abbas R, Berlanga P, Briandet C, Castex MP, Corradini N, Coze C, Guerrini-Rousseau L, Guinebretière JM, Khneisser P, Lervat C, Mansuy L, Marec-Berard P, Marie-Cardine A, Mascard E, Saumet L, Tabone MD, Winter S, Frebourg T, Gaspar N, Brugieres L. Saucier E, et al. Among authors: mansuy l. Pediatr Blood Cancer. 2024 Dec;71(12):e31362. doi: 10.1002/pbc.31362. Epub 2024 Oct 10. Pediatr Blood Cancer. 2024. PMID: 39387369
Medulloblastomas with ELP1 pathogenic variants: A weakly penetrant syndrome with a restricted spectrum in a limited age window.
Guerrini-Rousseau L, Masliah-Planchon J, Filser M, Tauziède-Espariat A, Entz-Werle N, Maugard CM, Hopman SMJ, Torrejon J, Gauthier-Villars M, Simaga F, Blauwblomme T, Beccaria K, Rouleau E, Dimaria M, Grill J, Abbou S, Claret B, Brugières L, Doz F, Bouchoucha Y, Faure-Conter C, Bonadona V, Mansuy L, de Carli E, Ingster O, Legrand C, Pagnier A, Berthet P, Bodet D, Julia S, Bertozzi AI, Wilems M, Maurage CA, Delattre O, Ayrault O, Dufour C, Bourdeaut F. Guerrini-Rousseau L, et al. Among authors: mansuy l. Neurooncol Adv. 2024 May 15;6(1):vdae075. doi: 10.1093/noajnl/vdae075. eCollection 2024 Jan-Dec. Neurooncol Adv. 2024. PMID: 38962751 Free PMC article.
Childhood Langerhans cell histiocytosis hematological involvement: severity associated with BRAFV600E loads.
Thalhammer J, Jeziorski E, Marec-Berard P, Barkaoui MA, Pagnier A, Rohrlich PS, Chevallier A, Carausu L, Aladjidi N, Rigaud C, Leruste A, Azarnoush S, Lauvray T, Le Louet S, Gandemer V, Treguier P, Mansuy L, Pasquet M, Olivier L, Rome A, Saultier P, Isfan F, Renard C, Li Thiao Te V, Salmon A, Blanc L, Abou Chahla W, Lambilliotte A, Stephan JL, Geissmann F, Lejeune J, Mallebranche C, Reguerre Y, Grain A, Thomas C, Hélias-Rodzewicz Z, Moshous D, Fenneteau O, Coulomb-L'hermine A, Lapillonne H, de Saint Basile G, Emile JF, Héritier S, Donadieu J. Thalhammer J, et al. Among authors: mansuy l. Blood. 2024 Nov 1:blood.2024025625. doi: 10.1182/blood.2024025625. Online ahead of print. Blood. 2024. PMID: 39486044
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
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 Free 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
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.
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
168 results