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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: naslavsky ms. 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
African ancestry protects against Alzheimer's disease-related neuropathology.
Schlesinger D, Grinberg LT, Alba JG, Naslavsky MS, Licinio L, Farfel JM, Suemoto CK, de Lucena Ferretti RE, Leite RE, de Andrade MP, dos Santos AC, Brentani H, Pasqualucci CA, Nitrini R, Jacob-Filho W, Zatz M; Brazilian Aging Brain Study Group. Schlesinger D, et al. Among authors: naslavsky ms. Mol Psychiatry. 2013 Jan;18(1):79-85. doi: 10.1038/mp.2011.136. Epub 2011 Nov 8. Mol Psychiatry. 2013. PMID: 22064377 Free PMC article.
Does germ-line deletion of the PIP gene constitute a widespread risk for cancer?
Silva AG, Krepischi AC, Torrezan GT, Capelli LP, Carraro DM, D'Angelo CS, Koiffmann CP, Zatz M, Naslavsky MS, Masotti C, Otto PA, Achatz MI, Mills RE, Lee C, Pearson PL, Rosenberg C. Silva AG, et al. Among authors: naslavsky ms. Eur J Hum Genet. 2014 Mar;22(3):307-9. doi: 10.1038/ejhg.2013.134. Epub 2013 Jun 19. Eur J Hum Genet. 2014. PMID: 23778870 Free PMC article. No abstract available.
p27 variant and corticotropinoma susceptibility: a genetic and in vitro study.
Sekiya T, Bronstein MD, Benfini K, Longuini VC, Jallad RS, Machado MC, Goncalves TD, Osaki LH, Higashi L, Viana J Jr, Kater C, Lee M, Molatore S, Francisco G, Chammas R, Naslavsky MS, Schlesinger D, Gama P, Duarte YA, Lebrão ML, Zatz M, Meirelles O, Liberman B, Fragoso MC, Toledo SP, Pellegata NS, Toledo RA. Sekiya T, et al. Among authors: naslavsky ms. Endocr Relat Cancer. 2014 Apr 28;21(3):395-404. doi: 10.1530/ERC-13-0486. Print 2014 Jun. Endocr Relat Cancer. 2014. PMID: 24532476
Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations.
Longuini VC, Lourenço DM Jr, Sekiya T, Meirelles O, Goncalves TD, Coutinho FL, Francisco G, Osaki LH, Chammas R, Alves VA, Siqueira SA, Schlesinger D, Naslavsky MS, Zatz M, Duarte YA, Lebrão ML, Gama P, Lee M, Molatore S, Pereira MA, Jallad RS, Bronstein MD, Cunha-Neto MB, Liberman B, Fragoso MC, Toledo SP, Pellegata NS, Toledo RA. Longuini VC, et al. Among authors: naslavsky ms. Eur J Endocrinol. 2014 Sep;171(3):335-42. doi: 10.1530/EJE-14-0130. Epub 2014 Jun 11. Eur J Endocrinol. 2014. PMID: 24920291
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Yamamoto GL, et al. Among authors: naslavsky ms. J Med Genet. 2015 Jun;52(6):413-21. doi: 10.1136/jmedgenet-2015-103018. Epub 2015 Mar 20. J Med Genet. 2015. PMID: 25795793
Exomic variants of an elderly cohort of Brazilians in the ABraOM database.
Naslavsky MS, Yamamoto GL, de Almeida TF, Ezquina SAM, Sunaga DY, Pho N, Bozoklian D, Sandberg TOM, Brito LA, Lazar M, Bernardo DV, Amaro E Jr, Duarte YAO, Lebrão ML, Passos-Bueno MR, Zatz M. Naslavsky MS, et al. Hum Mutat. 2017 Jul;38(7):751-763. doi: 10.1002/humu.23220. Epub 2017 May 3. Hum Mutat. 2017. PMID: 28332257
Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders.
Secolin R, Gonsales MC, Rocha CS, Naslavsky M, De Marco L, Bicalho MAC, Vazquez VL, Zatz M, Silva WA, Lopes-Cendes I. Secolin R, et al. Front Genet. 2021 Mar 25;12:636542. doi: 10.3389/fgene.2021.636542. eCollection 2021. Front Genet. 2021. PMID: 33841501 Free PMC article.
60 results