Publicações

2012

Agnez-Lima LF, Melo JT, Silva AE, Oliveira AH, Timoteo AR, Lima-Bessa KM, Martinez GR, Medeiros MH, Di Mascio P, Galhardo RS, Menck CF. DNA damage by singlet oxygen and cellular protective mechanisms. Mutat Res. 2012 Jan 14. [Epub ahead of print]

Aguena M, Dalto Fanganiello R, Tissiani LA, Ishiy FA, Atique R, Alonso N, Passos-Bueno MR . Optimization of parameters for a more efficient use of adipose-derived stem cells in regenerative medicine therapies.  Stem Cells Int. 2012;2012:303610. Epub 2012 Mar 14

Andrade LN, Nathanson JL, Yeo GW, Menck CF, Muotri AR. Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome. Hum Mol Genet. 2012 Jun 26. [Epub ahead of print].

Azevedo NF, Svartman M, Manchester A, de Moraes-Barros N, Stanyon R, Vianna-Morgante AM. Chromosome painting in three-toed sloths: a cytogenetic signature and ancestral karyotype for Xenarthra.  BMC Evol Biol. 2012 Mar 19;12:36.

Brito LA, Bassi C, Masotti C, Malcher M, Rocha K, Schlesinger D, Bueno D, Cruz L, Barbara L, Bertola D, Meyer D, Franco D, Passos-Bueno MR. IRF6 is a risk factor for nonsyndromic clef lip in the Brazilian population. American Journal of Medical Genetics. 2012. Manuscript ID: 11-0895.R2

Brito LA, Meira JG, Kobayashi GS, Passos-Bueno MR. Genetics and management of the patient with orofacial cleft. Plast Surg Int. 2012;2012:782821. doi: 10.1155/2012/782821. Epub 2012 Nov 1.

Brito LA, Paranaiba LM, Bassi CF, Masotti C, Malcher C, Schlesinger D, Rocha KM, Cruz LA, Bárbara LK, Alonso N, Franco D, Bagordakis E, Martelli H Jr, Meyer D, Coletta RD, Passos-Bueno MR. Region 8q24 is a susceptibility locus for nonsyndromic oral clefting in Brazil.  Birth Defects Res A Clin Mol Teratol. 2012 Jun;94(6):464-8.

Bueno Júnior CR, Pantaleão LC, Voltarelli VA, Bozi LH, Brum PC, Zatz M. Combined effect of AMPK/PPAR agonists and exercise training in mdx mice functional performance. Human Genome Research Center – Institute of Biosciences, University of Sao Paulo, Sao Paulo, Brazil. PLoS One. 2012;7(9):e45699. doi: 10.1371/journal.pone.0045699. Epub 2012 Sep 21.

Capelli LP, Krepischi ACV, Gurgel-Giannetti J, Mendes MFS, Rodrigues T, Varela MC, Koiffmann CP, Rosenberg C. Deletion of the RMGA and CHD2 genes in a child with epilepsy and mental deficiency. Eur J Med Genet. 2012 Feb;55(2):132-4.

Fonseca AC, Bonaldi A, Costa SS, Freitas MR, Kok F, Vianna-Morgante AM. PLP1 duplication at the breakpoint regions of an apparently balanced t(X;22) translocation causes Pelizaeus-Merzbacher disease in a girl.  Clin Genet. 2012 Feb 9. doi: 10.1111/j.1399-0004.2012.01854.x. [Epub ahead of print]

Freitas EL, Gribble SM, Simioni M, Vieira TP, Prigmore E, Krepischi AC, Rosenberg C, Pearson PL, Melo DG, Gil-da-Silva-Lopes VL. A familial case with interstitial 2q36 deletion: variable phenotypic expression in full and mosaic state. Eur.J Med.Genet. 2012

Goncalves A, Ewald IP, Sapienza M, Pinheiro M, Peixoto A, Nobrega AF, Carraro DM, Teixeira MR, Ashton-Prolla P, Achatz MI, Rosenberg C, Krepischi AC. Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion. BMC.Cancer 2012; 12: 237

Griesi-Oliveira K, Moreira Dde P, Davis-Wright N, Sanders S, Mason C, Orabona GM, Vadasz E, Bertola DR, State MW, Passos-Bueno MR. A complex chromosomal rearrangement involving chromosomes 2, 5, and X in autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet. 2012 Jul;159(5):529-36. doi: 10.1002/ajmg.b.32059. Epub 2012 May 16.

Guion-Almeida ML, Richieri-Costa A, Jehee FS, Passos-Bueno MR, Zechi-Ceide RM. Frontonasal dysplasia, callosal agenesis, basal encephalocele, and eye anomalies syndrome with a partial 21q22.3 deletion.  Am J Med Genet A. 2012 Jul;158A(7):1676-9. doi: 10.1002/ajmg.a.35351. Epub 2012 May 24

Gurgel-Giannetti J, Oliveira G, Brasileiro Filho Geraldo, Martins P, Vainzof M, Hirano M. Mitochondrial Cardioencephalomyopathy Due to a Novel SCO2 Mutation in a Brazilian Patient. Arch Neurol. doi: 10.001/jamaneurol.2013.595 Epub 2012 Nov

Gurgel-Giannetti J, Senkevics AS, Zilbersztajn-Gotlieb D, Yamamoto LU, Muniz VP, Pavanello RC, Oliveira AB, Zatz M, Vainzof M. Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype. Muscle Nerve. 2012 Feb;45(2):279-83. doi: 10.1002/mus.22252

Gurgel-Giannetti J, Zanoteli E, Concentino E L C ,Abath Neto O, Pesquero J B , Reed U C , Vainzof M. Necklace fibers as histopathological marker in a patientwith severe form of X-linked myotubular myopathy. Neuromuscul Disord. 2012 Jun;22(6):541-5

Jazedje T, Bueno DF, Pimenta B, Caetano H, Czeresnia CE, Perin P, Halpern S, Maluf M, Evangelista LP, Nisenbaum MG, Martins MT, Passos-Bueno MR, Zatz M. Human fallopian tube mesenchymal stem cells enhance bone regeneration in a xenotransplanted model. Stem Cell Rev. 2012 Jun;8(2):355-62

Klopocki E, Lohan S, Doelken SC, Stricker S, Ockeloen CW, Soares Thiele de Aguiar R, Lezirovitz K, Mingroni Netto RC, Jamsheer A, Shah H, Kurth I, Habenicht R, Warman M, Devriendt K, Kordaß U, Hempel M, Rajab A, Mäkitie O, Naveed M, Radhakrishna U, Antonarakis SE, Horn D, Mundlos S. Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion. Med Genet. 2012 Feb;49(2):119-25.

Kokitsu-Nakata NM, Zechi-Ceide RM, Vendramini-Pittoli S, Romanelli Tavares VL, Passos-Bueno MR, Guion-Almeida ML. Auriculo-condylar syndrome. Confronting a diagnostic challenge. Am J Med Genet A. 2011 Nov 21. doi: 10.1002/ajmg.a.34337, 2012

Krepischi AC, Achatz MI, Santos EM, Costa SS, Lisboa BC, Brentani H, Santos TM, Gonçalves A, Nóbrega AF, Pearson PL, Vianna-Morgante AM, Carraro DM, Brentani RR, Rosenberg C. Germline DNA copy number variation in familial and early-onset breast cancer. Breast Cancer Res. 2012 Feb 7;14(1):R24.

Krepischi AC, Pearson PL, Rosenberg C. Germline copy number variations and cancer predisposition. Future Oncology 2012; 8: 441-450.

Martins-Bach, Aurea B. ; Bloise, Antonio C. ; Vainzof, Mariz ; Rahnamaye Rabbani, Said . Metabolic profile of dystrophic mdx mouse muscles analyzed with in vitro magnetic resonance spectroscopy (MRS). Magnetic Resonance Imaging, v. 4, p. 1-1, 2012

Melo TQ, D’unhao AM, Martins SA, Farizatto KL, Chaves RS, Ferrari MF. Rotenone-dependent changes of anterograde motor protein expression and mitochondrial mobility in brain areas related to neurodegenerative diseases. Cell Mol Neurobiol. 2013 Apr;33(3):327-35. doi: 10.1007/s10571-012-9898-z. Epub 2012 Dec 22.

Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, de LN, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi AC, Le CC, Ogilvie CM, Maia S, Mathieu-Dramard M, Munnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro DL, Rosenberg C, Sa J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson ML, Anneren G. A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals and characteristic facial features. J Med Genet. 2012 Feb;49(2):104-9

Moraes MCS, Andrade AQ, Carvalho H, Guecheva T, Agnoletto MH, Henriques JA, Sarasin A, Stary A, Saffi J, Menck CF. Both XPA and DNA polymerase eta are necessary for the repair of doxorubicin-induced DNA lesions. Cancer Lett. 2012 Jan 1;314(1):108-18

Moraes MCS, Cabral-Neto JB, Menck CFM. DNA repair mechanisms protect our genome from carcinogenesis. Frontiers in Bioscience, 2012 Jan 1;17: 1362-1388

Onofre-Oliveira P C G, Santos A L F,  Martins P M,  Ayub-Guerrieri D, Vainzof M.  Differential Expression of Genes Involved in the Degenerationand Regeneration Pathways in Mouse Models for Muscular Dystrophies. Neuromolecular Med. 2012 Mar;14(1):74-83.

Pereira Fdos S, Matte U, Habekost CT, de Castilhos RM, El Husny AS, Lourenço CM, Vianna-Morgante AM, Giuliani L, Galera MF, Honjo R, Kim CA, Politei J, Vargas CR, Jardim LB. Mutations, clinical findings and survival estimates in South American patients with X-linked adrenoleukodystrophy.  PLoS One. 2012;7(3):e34195.

Peron JP, Jazedje T, Brandão WN, Perin PM, Maluf M, Evangelista LP, Halpern S, Nisenbaum MG, Czeresnia CE, Zatz M, Câmara NO, Rizzo LV.  Human Endometrial-Derived Mesenchymal Stem Cells Suppress Inflammation in the Central Nervous System of EAE Mice. Stem Cell Rev. 2011 Dec 17. [Epub ahead of print]

Quaio CR, Grinberg H, Vieira ML, Paula AC, Leal GN, Gomy I, Leistner-Segal S, Giugliani R, Bertola DR, Kim CA. Report of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II). JIMD Rep. 2012;4:125-8. doi: 10.1007/8904_2011_90. Epub 2011 Nov 8

Rodini Carolina O, Xavier FC, Paiva KB, De Souza Setúbal Destro MF, Moyses RA, Michaluarte P, Carvalho MB, Fukuyama EE; Head And Neck Genome Project Gencapo, Tajara EH, Okamoto OK, Nunes FD. Homeobox gene expression profile indicates HOXA5 as a candidate prognostic marker in oral squamous cell carcinoma.  Int J Oncol. 2012 Apr;40(4):1180-8

Rodini CO, Suzuki DE, Saba-Silva N, Cappellano A, de Souza JE, Cavalheiro S, Toledo SR, Okamoto OK. Expression analysis of stem cell-related genes reveal OCT4 as a predictor of poor clinical outcome in medulloblastoma.   J Neurooncol. 2012 Jan;106(1):71-9.

Schlesinger D,  Grinberg  LT, Alba JG,  Nazlavsky MS, Licinio L,  Farfel JM , Suemoto  C, Ferreti  RE,  Feio dos Santos  AC, Brentani H, Pasqualucci CA,  Nitrini R,  Jacob-Filho W , Zatz M . and the Brazilian Aging Brain Study Group .  African Ancestry protects against Alzheimer’s Disease-related neuropathology. Molecular Psychiatry 2011 Nov 8 . [Epub ahead of print], 2012

Schuch AP, Lago JC, Yagura T, Menck CF. DNA dosimetry assessment for sunscreen genotoxic photoprotection. PLoS One. 2012;7(6):e40344. Epub 2012 Jun 29.

Schuch AP, Yagura T, Makita K, Yamamoto H,  Schuch NJ, Agnez-Lima LF, MacMahon RM, Menck CF. DNA Damage Profiles Induced by Sunlight at Different Latitudes. Environmental and Molecular Environ Mol Mutagen. 2012 Jan 16. doi: 10.1002/em.21678. [Epub ahead of print]

Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Di Muzio A, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R. Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.  Am J Hum Genet. 2012 Apr 6;90(4):628-35.

Secco M, Bueno C Jr, Vieira NM, Almeida C, Pelatti M, Zucconi E, Bartolini P, Vainzof M, Miyabara EH, Okamoto OK, Zatz M. Systemic Delivery of Human Mesenchymal Stromal Cells Combined with IGF-1 Enhances Muscle Functional Recovery in LAMA2( dy/2j ) Dystrophic Mice.  Stem Cell Rev. 2012 Jun 5. [Epub ahead of print]

Sens-Abuazar C, Napolitano E Ferreira, Osorio CA, Krepischi AC, Ricca TI, Castro NP, da Cunha IW, Maciel MS, Rosenberg C, Brentani MM, Soares FA, Rocha RM, Carraro DM. Down-regulation of ANAPC13 and CLTCL1: Early Events in the Progression of Preinvasive Ductal Carcinoma of the Breast. Transl.Oncol. 2012; 5: 113-12

Silva GM, Netto LE, Simões V, Santos LF, Gozzo FC, Demasi MA, Oliveira CL, Bicev RN, Klitzke CF, Sogayar MC, Demasi M. Redox control of 20S proteasome gating. Antioxid Redox Signal. 2012 Jun 1;16(11):1183-94. Epub 2012 Mar 6.

Soares IC, Simoes K, de Souza JES, Okamoto OK, Wakamatsu A, Tuma MC, Ritter G, Alves VAF. In Silico Analysis and Immunohistochemical Characterization of NaPi2b Protein Expression in Ovarian Carcinoma With Monoclonal Antibody Mx35. Appl Immunohistochem Mol Morphol. 2012 Mar;20(2):165-72.

Vessoni AT, Muotri AR, Okamoto OK. Autophagy in Stem Cells Maintenance and Differentiation. Stem Cells Dev. 2012 Mar 1;21(4):513-20.

Vieira NM, Valadares M, Zucconi E, Secco M, Bueno Junior CR, Brandalise V, Assoni A, Gomes J, Landini V, Andrade T, Lima BL, Caetano HVA, Vainzof M, Zatz M. Human Adipose-Derived Stromal cells injected systemically into GRMD dogs are able to reach the host muscle and express human dystrophin. Cell Transplant. 2012;21(7):1407-17. doi: 10.3727/096368911X

Vissers LE, Cox TC, Maga AM, Short KM, Wiradjaja F, Janssen IM, Jehee F, Bertola D, Liu J, Yagnik G, Sekiguchi K, Kiyozumi D, van Bokhoven H, Marcelis C, Cunningham ML, Anderson PJ, Boyadjiev SA, Passos-Bueno MR, Veltman JA, Smyth I, Buckley MF, Roscioli T. Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genet. 2011 Sep;7(9):e1002278, 2012

Wang CH, Dowling JJ, North K, Schroth MK, Sejersen T, Shapiro F, Bellini J, Weiss H, Guillet M, Amburgey K, Apkon S, Bertini E, Bonnemann C, Clarke N, Connolly AM, Estournet-Mathiaud B, Fitzgerald D, Florence JM, Gee R, Gurgel-Giannetti J, Glanzman AM, Hofmeister B, Jungbluth H, Koumbourlis AC, Laing NG, Main M, Morrison LA, Munns C, Rose K, Schuler PM, Sewry C, Storhaug K, Vainzof M, Yuan N. Consensus statement on standard of care for congenital myopathies.  J Child Neurol. 2012 Mar;27(3):363-82.

Weller M, Tanieri M, Pereira JC, Almeida ES, Kok F, Santos S. Consanguineous Unions and the Burden of Disability: A Population-based Study in Communities of Northeastern Brazil. Am J Hum Biol. 2012 Nov-Dec;24(6):835-40. doi: 10.1002/ajhb.22328. Epub 2012 Oct 5.

Yeh E, Atique R, Ishiy FA, Fanganiello RD, Alonso N, Matushita H, da Rocha KM, Passos-Bueno MR. FGFR2 mutation confers a less drastic gain of function in mesenchymal stem cells than in fibroblasts. Stem Cell Rev. 2011 Nov 3 EPUB, 2012

Zanchi NE, Almeida FN, Lira FS, Neto JC, Nicastro H, da Luz CR, de Siqueira Filho MA, Felitti V, Vainzof M, Seelaender M, Poortmans JR, Lancha AH Jr. Renewed Avenues through Exercise Muscle Contractility and Inflammatory Status. ScientificWorldJournal. 2012;2012:584205.

Zatz M, Pavanello RD, Lourenço NC, Cerqueira A, Lazar M, Vainzof M. Assessing Pathogenicity for Novel Mutation/Sequence Variants: The Value of Healthy Older Individuals.  Neuromolecular Med. 2012 Jun 16. [Epub ahead of print]

Zechi-Ceide RM, Rodrigues MG, Jehee FS, Kokitsu-Nakata NM, Passos-Bueno MR, Guion-Almeida ML. Saethre-Chotzen phenotype with learning disability and hyper IgE phenotype in a patient due to complex chromosomal rearrangement involving chromosomes 3 and 7.  Am J Med Genet A. 2012 Jul;158A(7):1680-5. doi: 10.1002/ajmg.a.35367. Epub 2012 May 24