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Page 1
Extensive CFTR sequencing through NGS in Brazilian individuals with cystic fibrosis: unravelling regional discrepancies in the country.
da Silva Filho LVRF, Maróstica PJC, Athanazio RA, Reis FJC, Damaceno N, Paes AT, Hira AY, Schlesinger D, Kok F, Amaral MD; Brazilian Cystic Fibrosis Patient Registry Contributors Team. da Silva Filho LVRF, et al. Among authors: schlesinger d. J Cyst Fibros. 2021 May;20(3):473-484. doi: 10.1016/j.jcf.2020.08.007. Epub 2020 Aug 18. J Cyst Fibros. 2021. PMID: 32819855 Free article.
Autosomal recessive ataxias: 20 types, and counting.
Embiruçu EK, Martyn ML, Schlesinger D, Kok F. Embiruçu EK, et al. Among authors: schlesinger d. Arq Neuropsiquiatr. 2009 Dec;67(4):1143-56. doi: 10.1590/s0004-282x2009000600036. Arq Neuropsiquiatr. 2009. PMID: 20069237 Free article. Review.
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
Krepischi ACV, Villela D, da Costa SS, Mazzonetto PC, Schauren J, Migliavacca MP, Milanezi F, Santos JG, Guida G, Guarischi-Sousa R, Campana G, Kok F, Schlesinger D, Kitajima JP, Campagnari F, Bertola DR, Vianna-Morgante AM, Pearson PL, Rosenberg C. Krepischi ACV, et al. Among authors: schlesinger d. Sci Rep. 2022 Sep 7;12(1):15184. doi: 10.1038/s41598-022-19274-6. Sci Rep. 2022. PMID: 36071085 Free PMC article.
Introduction of SARS-CoV-2 C.37 (WHO VOI lambda) in the Sao Paulo State, Southeast Brazil.
Kashima S, Slavov SN, Giovanetti M, Rodrigues ES, Patané JSL, Viala VL, Santos EV, Evaristo M, de Lima LPO, Martins AJ, Dos Santos Barros CR, Marqueze EC, Garibaldi PMM, Ferreira NN, Moraes GR, Brassaloti RA, Cassano RLRC, Mariani PDSC, Kitajima JP, Schlesinger D, Bezerra RS, Assato PA, da Costa FAS, Poleti MD, Lesbon JCC, Mattos EC, Banho CA, Sacchetto L, Grotto RMT, Souza-Neto JA, Fonseca V, de Alcantara LCJ, Nogueira ML, Fukumasu H, Coutinho LL, Borges M, Calado RT, Elias MC, Sampaio SC, Covas DT. Kashima S, et al. Among authors: schlesinger d. J Med Virol. 2022 Mar;94(3):1206-1211. doi: 10.1002/jmv.27389. Epub 2021 Oct 20. J Med Virol. 2022. PMID: 34647634 Free PMC article.
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M. Vieira NM, et al. Among authors: schlesinger d. Hum Mol Genet. 2014 Aug 1;23(15):4103-10. doi: 10.1093/hmg/ddu127. Epub 2014 Mar 18. Hum Mol Genet. 2014. PMID: 24647604
Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.
Denora PS, Schlesinger D, Casali C, Kok F, Tessa A, Boukhris A, Azzedine H, Dotti MT, Bruno C, Truchetto J, Biancheri R, Fedirko E, Di Rocco M, Bueno C, Malandrini A, Battini R, Sickl E, de Leva MF, Boespflug-Tanguy O, Silvestri G, Simonati A, Said E, Ferbert A, Criscuolo C, Heinimann K, Modoni A, Weber P, Palmeri S, Plasilova M, Pauri F, Cassandrini D, Battisti C, Pini A, Tosetti M, Hauser E, Masciullo M, Di Fabio R, Piccolo F, Denis E, Cioni G, Massa R, Della Giustina E, Calabrese O, Melone MA, De Michele G, Federico A, Bertini E, Durr A, Brockmann K, van der Knaap MS, Zatz M, Filla A, Brice A, Stevanin G, Santorelli FM. Denora PS, et al. Among authors: schlesinger d. Hum Mutat. 2009 Mar;30(3):E500-19. doi: 10.1002/humu.20945. Hum Mutat. 2009. PMID: 19105190 Free article.
Genomic monitoring unveil the early detection of the SARS-CoV-2 B.1.351 (beta) variant (20H/501Y.V2) in Brazil.
Slavov SN, Patané JSL, Bezerra RDS, Giovanetti M, Fonseca V, Martins AJ, Viala VL, Rodrigues ES, Santos EV, Barros CRS, Marqueze EC, Santos B, Aburjaile F, Neto RM, Moretti DB, Haddad R, Calado RT, Kitajima JP, Freitas E, Schlesinger D, Junior de Alcantara LC, Elias MC, Sampaio SC, Kashima S, Covas DT. Slavov SN, et al. Among authors: schlesinger d. J Med Virol. 2021 Dec;93(12):6782-6787. doi: 10.1002/jmv.27190. Epub 2021 Jul 19. J Med Virol. 2021. PMID: 34241897 Free PMC article.
IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population.
Brito LA, Bassi CF, Masotti C, Malcher C, Rocha KM, Schlesinger D, Bueno DF, Cruz LA, Barbara LK, Bertola DR, Meyer D, Franco D, Alonso N, Passos-Bueno MR. Brito LA, et al. Among authors: schlesinger d. Am J Med Genet A. 2012 Sep;158A(9):2170-5. doi: 10.1002/ajmg.a.35526. Epub 2012 Aug 6. Am J Med Genet A. 2012. PMID: 22887868
316 results