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Publicações 2011

Publicações 2011

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  1. Abreu-Silva RS, Rincon D, Horimoto AR, Sguillar AP, Ricardo LA, Kimura L, Batissoco AC, Auricchio MT, Otto PA, Mingroni-Netto R C. The search of a genetic basis for noise-induced hearing loss (NIHL) . Ann Hum Biol. 2011 Mar;38(2):210-8. doi: 10.3109/03014460.2010.513774. Epub 2010 Sep 3

  2. Angeli CB, Kimura L, Auricchio MTBM, Vicente JP, Mattevi VS, Zembrzuski VM, Hutz MH, Pereira AC, Pereira TV, Mingroni-Netto RC . Multilocus analyses of seven candidate genes suggest interacting pathways for obesity-related traits in Brazilian populations . Obesity (Silver Spring). 2011 Jun;19(6):1244-51. doi: 10.1038/oby.2010.325. Epub 2011 Jan 13

  3. Araújo LV, Malkowski S, Braghetto KR, Passos-Bueno MR, Zatz M, Pu C, Ferreira JE. A rigorous approach to facilitate and guarantee the correctness of the genetic testing management in human genome information systems . BMC Genomics. 2011 Dec 22;12 Suppl 4:S13. doi: 10.1186/1471-2164-12-S4-S13. Epub 2011 Dec 22.

  4. Bertola DR , Aguena M, Yamamoto G, Ae Kim C, Passos-Bueno MR. Obesity in pycnodysostosis due to UPD1: possible effect of an imprinted gene on chromosome 1 . Am J Med Genet A. 2011 Jun;155A(6):1483-6. doi: 10.1002/ajmg.a.33989. Epub 2011 May 12.

  5. Boing AF, Antunes JLF, de Carvalho MB, de Gois Filho JF, Kowalski LP, Michaluart P, Gencapo, Okamoto OK, Eluf-Neto J, Boffetta P, Wunsch-Filho V. How much do smoking and alcohol consumption explain socioeconomic inequalities in head and neck cancer risk? Journal of Epidemiology and Community Health, v. 65, p. 709-714, 2011.

  6. Bonaldi A, Mazzeu JF, Costa SS, Honjo RS, Bertola DR, Albano LMJ, Furquim IM, Kim CA, Vianna-Morgante AM. Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver-Russell syndrome . Am J Med Genet A. 2011 Oct;155A(10):2479-83. doi: 10.1002/ajmg.a.34023. Epub 2011 Sep 9.

  7. Brito LA, Cruz LA, Rocha KM, Barbara LK, Silva CB, Bueno DF, Aguena M,Bertola DR, Franco D, Costa AM, Alonso N, Otto PA, Passos-Bueno MR. Genetic contributions for non-syndromic cleft lip with or without cleft palate (NS CL/P) in different regions of Brazil and implications for association studies . Am J Med Genet A. 2011 Jul;155A(7):1581-7. doi: 10.1002/ajmg.a.34036. Epub 2011 Jun 2.

  8. Amorim S, Otto Helse C, Santos S, Macedo-Souza LI, Zatz M, Kok F. Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome . Muscle Nerve. 2014 Jan;49(1):131-3. doi: 10.1002/mus.24087. Epub 2013 Oct 25.

  9. Bueno DF, Sunaga DY, Kobayashi GS, Aguena M, Raposo-Amaral CE, Masotti C, Cruz LA, Pearson PL, Passos-Bueno MR. Human stem cell cultures from cleft lip/palate patients show enrichment of transcripts involved in extracellular matrix modeling by comparison to controls . Stem Cell Rev Rep. 2011 Jun;7(2):446-57. doi: 10.1007/s12015-010-9197-3.

  10. 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. doi: 10.1016/j.ejmg.2011.10.004. Epub 2011 Nov 25.

  11. Comim CM, Moraz T, Abreu I, Fraga DB, Ghedim FV, Mildner N, Tuon L, Vainzof M, Zugno AI, Quevedo J. Reduction of acethylcolinesterase activity in the brain of mdx mice . Neuromuscul Disord. 2011 May;21(5):359-62. doi: 10.1016/j.nmd.2011.02.017. Epub 2011 Mar 26.
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  12. Costa IM, Nasser THT, Demasi M, Nascimento RMP, Netto LES, Miyamoto S, Prado FM, Monteiro G. The promoter of filamentation (POF1) protein from Saccharomyces cerevisiae is an ATPase involved in the protein quality control process . BMC Microbiology Article number: 268 Published: 28 December 2011

  13. Fanganiello RD, Kimonis VE, Côrte CC, Nitrini R, Passos-Bueno MR. A Brazilian family with hereditary inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia . Braz J Med Biol Res [online]. 2011, vol.44, n.4, pp.374-380. Epub 11-Mar-2011 ISSN 1414-431X.

  14. Freitas EL, Gribble SM, Simioni M, Vieira TP, Silva-Grecco RL, Balarin MAS, Prigmore E, Krepischi-Santos AC, Rosenberg C, Krepischi ACV, Szuhai K, van Haeringen A, Carter NP, Gil-da-Silva-Lopes VL. Maternally inherited partial 12 monosomy 9p (pter-p24.1) and partial trisomy 20p (pter-p12.1) characterized by microarray comparative genomic hybridization . Am J Med Genet A. 2011 Nov;155A(11):2754-61. doi: 10.1002/ajmg.a.34168. Epub 2011 Sep 21.

  15. Gurgel-Giannetti J, Zanotelli E, Concentino ELC, Pesquero JB, Abath Neto O, Reed UC, Vainzof M. Necklace fibers, histopathological finding in a patient with severe form of X-linked myotubular myopathy . Neuromuscul Disord. 2012 Jun;22(6):541-5. doi: 10.1016/j.nmd.2011.12.005. Epub 2012 Jan 20
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  16. Jaillard S, Andrieux J, Plessis G, Krepischi ACV, Lucas J, David V, Le Brun M, Bertola DR, David A, Belaud-Rotureau MA, Mosser J, Lazaro L, Rosenberg C, Treguier C, Odent S, Dubourg C. 5q12.1 deletion: Delineation of a phenotype including mental retardation and ocular defects . Am J Med Genet A. 2011 Apr;155A(4):725-31. doi: 10.1002/ajmg.a.33758. Epub 2011 Mar 15.

  17. 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 . Am J Med Genet A. 2011 Apr;155A(4):725-31. doi: 10.1002/ajmg.a.33758. Epub 2011 Mar 15.

  18. Jehee FS, Takamori JT, Medeiros PF, Pordeus AC, Latini FR, Bertola DR, Kim CA, Passos-Bueno MR. Using a combination of MLPA kits to detect chromosomal imbalances in patients with multiple congenital anomalies and mental retardation is a valuable choice for developing countries . Eur J Med Genet. Jul-Aug 2011;54(4):e425-32. doi: 10.1016/j.ejmg.2011.03.007. Epub 2011 Mar 30.

  19. 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 . J Med Genet. 2012 Feb;49(2):119-25. doi: 10.1136/jmedgenet-2011-100409. Epub 2011 Dec 6.
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  20. 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. 2012 Jan;158A(1):59-65. doi: 10.1002/ajmg.a.34337. Epub 2011 Nov 21.

  21. Mitne-Neto M, Machado-Costa M, Marchetto MCN, Bengtson MH, Joazeiro CA, Tsuda H, Bellen HJ, Silva HAC, Oliveira ASB, Lazar M, Muotri AR, Zatz M. Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem-cells of ALS8 patients . Hum Mol Genet. 2011 Sep 15; 20(18): 3642–3652. Published online 2011 Jun 17. doi: 10.1093/hmg/ddr284

  22. Molin AM, Krepischi ACV, Rosenberg C, 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. doi: 10.1136/jmedgenet-2011-100534. Epub 2011 Dec 17.

  23. 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. doi: 10.1016/j.canlet.2011.09.019. Epub 2011 Sep 24.

  24. Moraes MCS, Cabral-Neto JB, Menck CFM. DNA repair mechanisms protect our genome from carcinogenesis . Front Biosci (Landmark Ed). 2012 Jan 1;17:1362-88. doi: 10.2741/3992.

  25. Nakahata AM, Suzuki DE, Rodini CO, Pereira MCL, Janjoppi L, Okamoto OK. Human glioblastoma cells display mesenchymal stem cell features and form intracranial tumors in immunocompetent rats . J Stem Cells. 2010;5(3):103-11

  26. Netto CG, Nakamatsu EH, Netto LE, Novak MA, Zuin A, Nakamura M, Araki K, Toma HE. Catalytic properties of thioredoxin immobilized on superparamagnetic nanoparticles . J Inorg Biochem. 2011 May;105(5):738-44. 13 doi.org/10.1016/j.jinorgbio.2011.02.006

  27. Pereira MC, Secco M, Suzuki DE, Janjoppi L, Rodini CO, Torres LB, Araújo BHS, Cavalheiro EA, Zatz M, Okamoto OK. Contamination of mesenchymal stem-cells with fibroblasts accelerates neurodegeneration in an experimental model of Parkinson’s Disease . Stem Cell Rev. 2011 Nov; 7(4): 1006–1017.Published online 2011 Apr 19. doi: 10.1007/s12015-011-9256-4
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  28. Pereira TV, Mingroni-Netto RC, Yamada Y. ADRB2 and LEPR gene polymorphisms: Synergistic effects on the risk of obesity in Japanese . Obesity (Silver Spring). 2011 Jul;19(7):1523-7. doi: 10.1038/oby.2010.322. Epub 2011 Jan 13.
    .

  29. Pereira TV, Mingroni-Netto RC. A note on the use of the generalized odds ratio in meta-analysis of association studies involving bi- and tri-allelic polymorphisms . BMC Res Notes. 2011 Jun 6;4:172. doi: 10.1186/1756-0500-4-172.

  30. Piluso G, Dionisi M, Blanco FDV, Torella A, Aurino S, Savarese M, Giugliano T, Bertini E, Terracciano A, Vainzof M, Criscuolo C, Filla A, De Michele G, Politano L, Casali C, Santorelli FM, Nigro V. Motor Chip: a comparative genomic hybridization microarray for copy-number mutations in 245 neuromuscular disorders .Clin Chem. 2011 Nov;57(11):1584-96. doi: 10.1373/clinchem.2011.168898. Epub 2011 Sep 6

  31. Prontera P, Rogaia D, Sobacchi C, Tavares VL, Mazzotta G, Passos-Bueno MR, Donti E. Craniometaphyseal dysplasia with severe craniofacial involvement shows homozygosity at 6q21-22.1 locus. Case Reports Am J Med Genet A. 2011 May;155A(5):1106-8. doi: 10.1002/ajmg.a.33826. Epub 2011 Apr 4.

  32. Raposo-Amaral CE, Almeida AB, Paschoal G, Bueno DF, Vulcano LC, PassosBueno MR, Alonso N. Histological and radiologica changes in cranial bone in the presence of bone wax . Acta Cir Bras. 2011 Aug;26(4):274-8. doi.org/10.1590/S0102-86502011000400005

  33. 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, JacobFilho W, Zatz M and the Brazilian Aging Brain Study Group. African Ancestry protects against Alzheimer's Disease-related neuropathology . Mol Psychiatry. 2013 Jan;18(1):79-85. doi: 10.1038/mp.2011.136. Epub 2011 Nov 8.

  34. Schuch AP, Yagura T, Makita K, Yamamoto H, Schuch NJ, Agnez-Lima LF, MacMahon RM, Menck CFM. DNA Damage Profiles Induced by Sunlight at Different Latitudes . Environ Mol Mutagen. 2012 Apr;53(3):198-206. doi: 10.1002/em.21678

  35. Sertié AL, Suzuki AM, Sertié RA, Andreotti S, Lima FB, Passos-Bueno MR, Gattaz WF. Effects of antipsychotics with different weight gain liabilities on human in vitro models of adipose tissue differentiation and metabolism . Prog Neuropsychopharmacol Biol Psychiatry. 2011 Dec 1;35(8):1884-90. doi: 10.1016/j.pnpbp.2011.07.017. Epub 2011 Aug 5.

  36. 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 Mx 35 . Appl Immunohistochem Mol Morphol. 2012 Mar;20(2):165-72. doi: 10.1097/pai.0b013e318228e232.

  37. Souza J, dal Vesco K, Tonocchi R, Closs-Ono MC, Passos-Bueno MR, da SilvaFreitas R. The Richieri-Costa and Pereira syndrome: report of two Brazilian siblings and review of literature . Am J Med Genet A. 2011 May;155A(5):1173-7. doi: 10.1002/ajmg.a.33975. Epub 2011 Apr 11.

  38. Suzuki DE, Ariza CB, Porcionatto MA, Okamoto OK. Upregulation of E2F1 in cerebellar neuroprogenitor cells and cell cycle arrest during postnatal brain development. In Vitro Cellular & Developmental Biology. Animal (Print), Aug;47(7):492-9, 2011.

  39. Toledo JC Jr, Audi R, Ogusucu R, Monteiro G, Netto LE, Augusto O. Horseradish peroxidase compound I as a tool to investigate reactive protein-cysteine residues: from quantification to kinetics. Free Radic Biol Med. 2011 May 1;50(9):1032-8.

  40. Toledo SRC, Zago MA, Oliveira ID, Proto-Siqueira R, Okamoto OK, Severino P, Vêncio RZN, Gamba FT, Silva WA, Moreira-Filho CA, Torre CAD, Alves MTS, Garcia-Filho RJ, Simpson, AJG, Petrilli AS. Insights on PRAME and osteosarcoma 14 by means of gene expression profiling. Journal of Orthopaedic Science (Print), Jul;16(4):458-66, 2011.

  41. Vessoni AT, Muotri AR, Okamoto OK. Autophagy in Stem Cells Maintenance and Differentiation. Stem Cells and Development 2011 Nov 8. [Epub ahead of print]

  42. Vieira DB, Kim V, Petri DSF, Menck CFM, Carmona-Ribeiro AM. Polymer-based delivery vehicle for cisplatine. NSTI-Nanotech 2011, 3, 382-385.

  43. 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. 2011 Oct 14. [Epub ahead of print]

  44. 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. doi: 10.1371/journal.pgen.1002278. Epub 2011 Sep 8.

  45. 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, Giannetti JG, Glanzman A, 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): 363–382. doi: 10.1177/0883073812436605

  46. Yagura T, Makita K, Yamamoto H, Menck CFM, Schuch AP. Biological Sensors for Solar Ultraviolet Radiation . Sensors (Basel). 2011;11(4):4277-94. doi: 10.3390/s110404277. Epub 2011 Apr 12.

  47. 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. 2012; 8(3): 685–695.Published online 2011 Nov 3. doi: 10.1007/s12015-011-9327-6
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  48. Zucconi E, Vieira NM, Bueno Jr CR, Secco M, Jazedje T, Valadares MC, Suzuki MF, Bartolini P, Vainzof M, Zatz M. Pre-clinical studies with umbilical cord mesenchymal stromal-cells in different animal models for muscular dystrophy . J Biomed Biotechnol. 2011;2011:715251. doi: 10.1155/2011/715251. Epub 2011 Jul 15.

 

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