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Page 1
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: dimaria m. 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.
Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.
Guerrini-Rousseau L, Dufour C, Varlet P, Masliah-Planchon J, Bourdeaut F, Guillaud-Bataille M, Abbas R, Bertozzi AI, Fouyssac F, Huybrechts S, Puget S, Bressac-De Paillerets B, Caron O, Sevenet N, Dimaria M, Villebasse S, Delattre O, Valteau-Couanet D, Grill J, Brugières L. Guerrini-Rousseau L, et al. Among authors: dimaria m. Neuro Oncol. 2018 Jul 5;20(8):1122-1132. doi: 10.1093/neuonc/nox228. Neuro Oncol. 2018. PMID: 29186568 Free PMC article.
The Frequency of Germline BRCA and Non-BRCA HR-Gene-Variants in a Cohort of Pancreatic Cancer Patients.
Baz M, Gondran-Teiller V, Bressac B, Cabaret O, Fievet A, Dimaria M, Goldbarg V, Colas C, Bonnet-Dupeyron MN, Tinat J, Lebrun M, Mari V, Limacher JM, Corsini C, Ginglinger E, Saurin JC, Brahimi A, Rouzier C, Giraud S, Schuster H, Hollebecque A, Boige V, Cauchin E, Malka D, Caron O, Rouleau E. Baz M, et al. Among authors: dimaria m. Dig Dis Sci. 2023 Apr;68(4):1525-1528. doi: 10.1007/s10620-022-07733-z. Epub 2022 Oct 31. Dig Dis Sci. 2023. PMID: 36315333
Hereditary diffuse gastric cancer syndrome: improved performances of the 2015 testing criteria for the identification of probands with a CDH1 germline mutation.
Benusiglio PR, Colas C, Rouleau E, Uhrhammer N, Romero P, Remenieras A, Moretta J, Wang Q, De Pauw A, Buecher B, Stoppa-Lyonnet D, Mouret-Fourme E, Noguès C, Di Maria M, Tlemsani C, Warcoin M, Grandjouan S, Malka D, Caron O, Blayau M. Benusiglio PR, et al. J Med Genet. 2015 Aug;52(8):563-5. doi: 10.1136/jmedgenet-2015-103153. Epub 2015 May 29. J Med Genet. 2015. PMID: 26025002 No abstract available.
CDH1 germline mutations and the hereditary diffuse gastric and lobular breast cancer syndrome: a multicentre study.
Benusiglio PR, Malka D, Rouleau E, De Pauw A, Buecher B, Noguès C, Fourme E, Colas C, Coulet F, Warcoin M, Grandjouan S, Sezeur A, Laurent-Puig P, Molière D, Tlemsani C, Di Maria M, Byrde V, Delaloge S, Blayau M, Caron O. Benusiglio PR, et al. J Med Genet. 2013 Jul;50(7):486-9. doi: 10.1136/jmedgenet-2012-101472. Epub 2013 May 25. J Med Genet. 2013. PMID: 23709761
Estimation of pulmonary vascular resistance for Glenn physiology.
Laudenschlager S, Schofield S, Drysdale N, Stone M, Romanowicz J, Frank B, DiMaria M, Kheyfets VO, Hedjazi-Moghari M. Laudenschlager S, et al. Among authors: dimaria m. PLoS One. 2024 Jul 26;19(7):e0307890. doi: 10.1371/journal.pone.0307890. eCollection 2024. PLoS One. 2024. PMID: 39058711 Free PMC article.
The proteomic fingerprint in infants with single ventricle heart disease in the interstage period: evidence of chronic inflammation and widespread activation of biological networks.
Thomson LM, Mancuso CA, Wolfe KR, Khailova L, Niemiec S, Ali E, DiMaria M, Mitchell M, Twite M, Morgan G, Frank BS, Davidson JA. Thomson LM, et al. Among authors: dimaria m. Front Pediatr. 2023 Dec 8;11:1308700. doi: 10.3389/fped.2023.1308700. eCollection 2023. Front Pediatr. 2023. PMID: 38143535 Free PMC article.
43 results