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Page 1
Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.
Milon V, Malinge MC, Blanluet M, Tessarech M, Battault C, Prestwich S, Vary B, Gueracher P, Legoff L, Barth M, Houdayer C, Guichet A, Rousseau A, Bonneau D, Procaccio V, Bris C, Colin E. Milon V, et al. Among authors: blanluet m. Eur J Hum Genet. 2024 May 28. doi: 10.1038/s41431-024-01631-w. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38806662
Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!
Baide-Mairena H, Coget A, Leboucq N, Procaccio V, Blanluet M, Meyer P, Malinge MC, François-Heude MC, Moreno M, Geneviève D, Marelli C, Roubertie A. Baide-Mairena H, et al. Among authors: blanluet m. Ann Clin Transl Neurol. 2023 Oct;10(10):1937-1943. doi: 10.1002/acn3.51858. Epub 2023 Jul 25. Ann Clin Transl Neurol. 2023. PMID: 37491839 Free PMC article.
MSH3: a confirmed predisposing gene for adenomatous polyposis.
Villy MC, Masliah-Planchon J, Schnitzler A, Delhomelle H, Buecher B, Filser M, Merchadou K, Golmard L, Melaabi S, Vacher S, Blanluet M, Suybeng V, Corsini C, Dhooge M, Hamzaoui N, Farelly S, Ait Omar A, Benamouzig R, Caumette V, Bahuau M, Cucherousset J, Allory Y, Stoppa-Lyonnet D, Bieche I, Colas C. Villy MC, et al. Among authors: blanluet m. J Med Genet. 2023 Nov 27;60(12):1198-1205. doi: 10.1136/jmg-2023-109341. J Med Genet. 2023. PMID: 37402566
Description of Copy Number Variations in a Series of Children and Adolescents with FASD in Reunion Island.
Sennsfelder L, Guilly S, Leruste S, Hoareau L, Léocadie W, Beuvain P, Nekaa M, Bagard M, Robin S, Lanneaux J, Etchebarren L, Tallot M, Spodenkiewicz M, Alessandri JL, Morel G, Blanluet M, Gueguen P, Roy-Doray B. Sennsfelder L, et al. Among authors: blanluet m. Children (Basel). 2023 Apr 7;10(4):694. doi: 10.3390/children10040694. Children (Basel). 2023. PMID: 37189943 Free PMC article.
Clonal hematopoiesis driven by chromosome 1q/MDM4 trisomy defines a canonical route toward leukemia in Fanconi anemia.
Sebert M, Gachet S, Leblanc T, Rousseau A, Bluteau O, Kim R, Ben Abdelali R, Sicre de Fontbrune F, Maillard L, Fedronie C, Murigneux V, Bellenger L, Naouar N, Quentin S, Hernandez L, Vasquez N, Da Costa M, Prata PH, Larcher L, de Tersant M, Duchmann M, Raimbault A, Trimoreau F, Fenneteau O, Cuccuini W, Gachard N, Auger N, Tueur G, Blanluet M, Gazin C, Souyri M, Langa Vives F, Mendez-Bermudez A, Lapillonne H, Lengline E, Raffoux E, Fenaux P, Adès L, Forcade E, Jubert C, Domenech C, Strullu M, Bruno B, Buchbinder N, Thomas C, Petit A, Leverger G, Michel G, Cavazzana M, Gluckman E, Bertrand Y, Boissel N, Baruchel A, Dalle JH, Clappier E, Gilson E, Deriano L, Chevret S, Sigaux F, Socié G, Stoppa-Lyonnet D, de Thé H, Antoniewski C, Bluteau D, Peffault de Latour R, Soulier J. Sebert M, et al. Among authors: blanluet m. Cell Stem Cell. 2023 Feb 2;30(2):153-170.e9. doi: 10.1016/j.stem.2023.01.006. Cell Stem Cell. 2023. PMID: 36736290 Free article.
Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes.
Garcia-Pelaez J, Barbosa-Matos R, Lobo S, Dias A, Garrido L, Castedo S, Sousa S, Pinheiro H, Sousa L, Monteiro R, Maqueda JJ, Fernandes S, Carneiro F, Pinto N, Lemos C, Pinto C, Teixeira MR, Aretz S, Bajalica-Lagercrantz S, Balmaña J, Blatnik A, Benusiglio PR, Blanluet M, Bours V, Brems H, Brunet J, Calistri D, Capellá G, Carrera S, Colas C, Dahan K, de Putter R, Desseignés C, Domínguez-Garrido E, Egas C, Evans DG, Feret D, Fewings E, Fitzgerald RC, Coulet F, Garcia-Barcina M, Genuardi M, Golmard L, Hackmann K, Hanson H, Holinski-Feder E, Hüneburg R, Krajc M, Lagerstedt-Robinson K, Lázaro C, Ligtenberg MJL, Martínez-Bouzas C, Merino S, Michils G, Novaković S, Patiño-García A, Ranzani GN, Schröck E, Silva I, Silveira C, Soto JL, Spier I, Steinke-Lange V, Tedaldi G, Tejada MI, Woodward ER, Tischkowitz M, Hoogerbrugge N, Oliveira C. Garcia-Pelaez J, et al. Among authors: blanluet m. Lancet Oncol. 2023 Jan;24(1):91-106. doi: 10.1016/S1470-2045(22)00643-X. Epub 2022 Nov 24. Lancet Oncol. 2023. PMID: 36436516 Free PMC article.
Robust methylation-based classification of brain tumours using nanopore sequencing.
Kuschel LP, Hench J, Frank S, Hench IB, Girard E, Blanluet M, Masliah-Planchon J, Misch M, Onken J, Czabanka M, Yuan D, Lukassen S, Karau P, Ishaque N, Hain EG, Heppner F, Idbaih A, Behr N, Harms C, Capper D, Euskirchen P. Kuschel LP, et al. Among authors: blanluet m. Neuropathol Appl Neurobiol. 2023 Feb;49(1):e12856. doi: 10.1111/nan.12856. Epub 2022 Nov 9. Neuropathol Appl Neurobiol. 2023. PMID: 36269599
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: blanluet m. 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.
Recurrent FAN1 p.W707X Pathogenic Variant Originating Before ad 1800 Underlies High Frequency of Karyomegalic Interstitial Nephritis in South Pacific Islands.
Gueguen L, Delaval R, Blanluet M, Sartelet H, Leou S, Dubois d'Enghien C, Golmard L, Stoppa-Lyonnet D, Testevuide P, Faguer S. Gueguen L, et al. Among authors: blanluet m. Kidney Int Rep. 2021 May 21;6(8):2207-2211. doi: 10.1016/j.ekir.2021.05.010. eCollection 2021 Aug. Kidney Int Rep. 2021. PMID: 34386670 Free PMC article. No abstract available.
Recurrence of an early postzygotic rescue of an inherited unbalanced translocation resulting in mosaic segmental uniparental isodisomy of chromosome 11q in siblings.
Blanluet M, Chantot-Bastaraud S, Chambon P, Cassinari K, Vera G, Goldenberg A, Keren B, Le Meur N, Hannequin D, Mace B, Siffroi JP, Frebourg T, Nicolas G, Joly-Helas G. Blanluet M, et al. Am J Med Genet A. 2021 Oct;185(10):3057-3061. doi: 10.1002/ajmg.a.62361. Epub 2021 May 27. Am J Med Genet A. 2021. PMID: 34043868
18 results