Publicações

2014

Amorim S, Otto Heise C, Santos S, Macedo-Souza LI, Zatz M, Kok F. Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome. Department of Neurology, University of São Paulo School of Medicine, São Paulo, Brazil.

Borlot F, Arantes PR, Quaio CR, Franco JF, Lourenço CM, Gomy I, Bertola DR, Kim CA. Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement. Am J Med Genet A. 2014 May;164A(5):1162-9. doi: 10.1002/ajmg.a.36424. Epub 2014 Jan 29.

Cunha Pda S, Pena HB, D’Angelo CS, Koiffmann CP, Rosenfeld JA, Shaffer LG, Stofanko M, Gonçalves-Dornelas H, Pena SD. Accurate, fast and cost-effective diagnostic test for monosomy 1p36 using real-time quantitative PCR. Dis Markers. 2014;2014:836082. doi: 10.1155/2014/836082. Epub 2014 Apr 15.

de Castilhos RM, Furtado GV, Gheno TC, Schaeffer P, Russo A, Barsottini O, Pedroso JL, Salarini DZ, Vargas FR, de Lima MA, Godeiro C, Santana-da-Silva LC, Toralles MB, Santos S, van der Linden H Jr, Wanderley HY, de Medeiros PF, Pereira ET, Ribeiro E, Saraiva-Pereira ML, Jardim LB; Rede Neurogenetica. Spinocerebellar ataxias in Brazil–frequencies and modulating effects of related genes. Cerebellum. 2014 Feb;13(1):17-28. doi: 10.1007/s12311-013-0510-y.

Demasi M, Hand A, Ohara E, Oliveira CL, Bicev RN, Bertoncini CA, Netto LE. 20S proteasome activity is modified via S-glutathionylation based on intracellular redox status of the yeast Saccharomyces cerevisiae: Implications for the degradation of oxidized proteins. Arch Biochem Biophys. 2014 May 9. pii: S0003-9861(14)00151-9. doi: 10.1016/j.abb.2014.05.002. [Epub ahead of print]

Dos Santos PA, de Oliveira SF, Freitas EL, Safatle HP, Rosenberg C, Ferrari I, Mazzeu JF. Non-overlapping 22q11.2 microdeletions in patients with oculo-auriculo-vertebral spectrum. Am J Med Genet A. 2014 Feb;164A(2):551-3. doi: 10.1002/ajmg.a.36231. Epub 2013 Dec 5.

Favaro FP, Alvizi L, Zechi-Ceide RM, Bertola D, Felix TM, de Souza J, Raskin S, Twigg SR, Weiner AM, Armas P, Margarit E, Calcaterra NB, Andersen GR, McGowan SJ, Wilkie AO, Richieri-Costa A, de Almeida ML, Passos-Bueno MR. A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. Am J Hum Genet. 2014 Jan 2;94(1):120-8. doi: 10.1016/j.ajhg.2013.11.020. Epub 2013 Dec 19.

Freitas ÉL, Oiticica J, Silva AG, Bittar RS, Rosenberg C, Mingroni-Netto RC. Deletion of the entire POU4F3 gene in a familial case of autosomal dominant non-syndromic hearing loss. Eur J Med Genet. 2014 Mar;57(4):125-8. doi: 10.1016/j.ejmg.2014.02.006. Epub 2014 Feb 18.

Longuini VC, Lourenco-Jr DM, Sekiya T, Meirelles OD, Goncalves TD, Coutinho FL, Francisco G, Osaki LH, Chammas R, Alves VA, Siqueira SA11, Schlesinger D, Naslavsky MS, Zatz M, Duarte YA, Lebrao ML, Gama P, Lee M, Molatore S, Pereira MA, Jallad RS, Bronstein M, Cunha Neto MB, Liberman B, Fragoso MC, Toledo SP, Pellegata NN, Toledo RA. Association between the p27 rs2066827 variant and tumor multiplicity in patients harboring MEN1 germline mutations. Eur J Endocrinol. 2014 Jun 11. pii: EJE-14-0130. [Epub ahead of print]

Melo US, Santos S, Cavalcanti HG, Andrade WT, Dantas VG, Rosa MR, Mingroni-Netto RC. Strategies for genetic study of hearing loss in the Brazilian northeastern region. Int J Mol Epidemiol Genet. 2014 Feb 17;5(1):11-21. eCollection 2014.

Menck CF, Munford V. DNA repair diseases: What do they tell us about cancer and aging? Genet Mol Biol. 2014 Mar;37(1 Suppl):220-33.

Pereira TV, Kimura L, Suwazono Y, Nakagawa H, Daimon M, Oizumi T, Kayama T, Kato T, Li L, Chen S, Gu D, Renner W, März W, Yamada Y, Bagos PG, Mingroni-Netto RC. Multivariate meta-analysis of the association of G-protein beta 3 gene (GNB3) haplotypes with cardiovascular phenotypes. Mol Biol Rep. 2014 May;41(5):3113-25. doi: 10.1007/s11033-014-3171-0. Epub 2014 Jan 30.

Quinet A, Vessoni AT, Rocha CR, Gottifredi V, Biard D, Sarasin A, Menck CF, Stary A. Gap-filling and bypass at the replication fork are both active mechanisms for tolerance of low-dose ultraviolet-induced DNA damage in the human genome. DNA Repair (Amst). 2014 Feb;14:27-38. doi: 10.1016/j.dnarep.2013.12.005. Epub 2013 Dec 28.

Raposo-Amaral CE, Bueno DF, Almeida AB, Jorgetti V, Costa CC, Gouveia CH, Vulcano LC, Fanganiello RD, Passos-Bueno MR, Alonso N. Is bone transplantation the gold standard for repair of alveolar bone defects? J Tissue Eng. 2014 Jan 16;5:2041731413519352. doi: 10.1177/2041731413519352. eCollection 2014.

Santos S, da Silva Pequeno AA, Pessoa A, Galvão CR, de Medeiros JL, Mathias W, Kok F. Increased prevalence of inherited neuromuscular disorders due to endogamy in Northeast Brazil: the need of community genetics services. J Community Genet. 2014 Jul;5(3):199-203. doi: 10.1007/s12687-013-0174-9. Epub 2013 Nov 26.

Santos S, Pequeno AA, Galvão CR, Pessoa AL, Almeida Edos S, Pereira JC, Medeiros JL, Kok FSantos S, Pequeno AA, Galvão CR, Pessoa AL, Almeida Edos S, Pereira JC, Medeiros JL, Kok F.. [The causes of physical disability in municipalities of the northeast of Brazil and an estimate of costs of specialized services]. Cien Saude Colet. 2014 Feb;19(2):559-68.

Schaefer E, Collet C, Genevieve D, Vincent M, Lohmann DR, Sanchez E, Bolender C, Eliot MM, Nürnberg G, Passos-Bueno MR, Wieczorek D, van Maldergem L, Doray B. Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome. Genet Med. 2014 Mar 6. doi: 10.1038/gim.2014.12. [Epub ahead of print]

Sekiya T, Bronstein MD, Benfini K, Longuini VC, Jallad RS, Machado MC, Goncalves TD, Osaki LH, Higashi L, Viana-Jr J, 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. p27 variant and corticotropinoma susceptibility: a genetic and in vitro study. Endocr Relat Cancer. 2014 Apr 28;21(3):395-404. doi: 10.1530/ERC-13-0486. Print 2014 Jun.

Silva AG, Krepischi AC, Pearson PL, Hainaut P, Rosenberg C, Achatz MI. The profile and contribution of rare germline copy number variants to cancer risk in Li-Fraumeni patients negative for TP53 mutations. Orphanet J Rare Dis. 2014 Apr 28;9:63. doi: 10.1186/1750-1172-9-63.

Valadares MC, Gomes JP, Castello G, Assoni A, Pellati M, Bueno C, Corselli M, Silva H, Bartolini P, Vainzof M, Margarido PF, Baracat E, Péault B, Zatz M. Human Adipose Tissue Derived Pericytes Increase Life Span in Utrn tm1Ked Dmd mdx /J Mice. Stem Cell Rev. 2014 Jun 19. [Epub ahead of print]

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. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Hum Mol Genet. 2014 Aug 1;23(15):4103-10. doi: 10.1093/hmg/ddu127. Epub 2014 Mar 18.

Yamamoto GL, Baratela WA, Almeida TF, Lazar M, Afonso CL, Oyamada MK, Suzuki L, Oliveira LA, Ramos ES, Kim CA, Passos-Bueno MR, Bertola DR. Mutations in PCYT1A cause spondylometaphyseal dysplasia with cone-rod dystrophy. Am J Hum Genet. 2014 Jan 2;94(1):113-9. doi: 10.1016/j.ajhg.2013.11.022.

Zatz M, Pavanello RC, Lazar M, Yamamoto GL, Lourenço NC, Cerqueira A, Nogueira L, Vainzof M. Milder course in Duchenne patients with nonsense mutations and no muscle dystrophin. Neuromuscul Disord. 2014 Jun 10. pii: S0960-8966(14)00154-0. doi: 10.1016/j.nmd.2014.06.003. [Epub ahead of print]