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LMNB1 mutation causes cerebellar involvement and a genome instability defect.
Pedroso JL, Munford V, Bastos AU, Castro LP, Marussi VHR, Silva GS, Arita JH, Menck CFM, Barsottini OG. Pedroso JL, et al. Among authors: munford v. J Neurol Sci. 2017 Aug 15;379:249-252. doi: 10.1016/j.jns.2017.06.027. Epub 2017 Jun 16. J Neurol Sci. 2017. PMID: 28716252 No abstract available.
Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients.
Santiago KM, Castro LP, Neto JPD, de Nóbrega AF, Pinto CAL, Ashton-Prolla P, Pinto E Vairo F, de Medeiros PFV, Ribeiro EM, Ribeiro BFR, do Valle FF, Doriqui MJR, Leite CHB, Rocha RM, Moura LMS, Munford V, Galante PAF, Menck CFM, Rogatto SR, Achatz MI. Santiago KM, et al. Among authors: munford v. J Eur Acad Dermatol Venereol. 2020 Oct;34(10):2392-2401. doi: 10.1111/jdv.16405. Epub 2020 May 21. J Eur Acad Dermatol Venereol. 2020. PMID: 32239545
The Iberian legacy into a young genetic xeroderma pigmentosum cluster in central Brazil.
Castro LP, Sahbatou M, Kehdy FSG, Farias AA, Yurchenko AA, de Souza TA, Rosa RCA, Mendes-Junior CT, Borda V, Munford V, Zanardo ÉA, Chehimi SN, Kulikowski LD, Aquino MM, Leal TP, Tarazona-Santos E, Chaibub SC, Gener B, Calmels N, Laugel V, Sarasin A, Menck CFM. Castro LP, et al. Among authors: munford v. Mutat Res Genet Toxicol Environ Mutagen. 2020 Apr;852:503164. doi: 10.1016/j.mrgentox.2020.503164. Epub 2020 Feb 29. Mutat Res Genet Toxicol Environ Mutagen. 2020. PMID: 32265042 Free article.
35 results