Publicações

2013

Bagordakis E, Paranaiba LM, Brito LA, de Aquino SN, Messetti AC, Martelli-Junior H, Swerts MS, Graner E, Passos-Bueno MR, Coletta RD. Polymorphisms at regions 1p22.1 (rs560426) and 8q24 (rs1530300) are risk markers for nonsyndromic cleft lip and/or palate in the Brazilian population. Am J Med Genet A. 2013 May;161A(5):1177-80. doi: 10.1002/ajmg.a.35830. Epub 2013 Mar 26.

Bertola DR, Rodrigues MG, Quaio CR, Kim CA, Passos-Bueno MR. Vertical transmission of a frontonasal phenotype caused by a novel ALX4 mutation. Am J Med Genet A. 2013 Mar;161A(3):600-4. doi: 10.1002/ajmg.a.35762. Epub 2013 Feb 7.

Chaves RS, Melo TQ, D’Unhao AM, Farizatto KL, Ferrari MF. Dynein c1h1, dynactin and syntaphilin expression in brain areas related to neurodegenerative diseases following exposure to rotenone. Acta Neurobiol Exp (Wars). 2013;73(4):541-56.

Clouthier DE, Passos-Bueno MR, Tavares AL, Lyonnet S, Amiel J, Gordon CT. Understanding the basis of auriculocondylar syndrome: Insights from human, mouse and zebrafish genetic studies. Am J Med Genet C Semin Med Genet. 2013 Nov;163C(4):306-17. doi: 10.1002/ajmg.c.31376. Epub 2013 Oct 4.

Comim CM, Mendonça BP, Dominguini D, Cipriano AL, Steckert AV, Scaini G, Vainzof M, Streck EL, Dal-Pizzol F, Quevedo J. Central Nervous System Involvement in the Animal Model of Myodystrophy. Mol Neurobiol. 2013 Aug;48(1):71-7. doi: 10.1007/s12035-013-8415-9. Epub 2013 Mar 19.

Cortat B, Garcia CC, Quinet A, Schuch AP, de Lima-Bessa KM, Menck CF. The relative roles of DNA damage induced by UVA irradiation in human cells. Photochem Photobiol Sci. 2013 Aug;12(8):1483-95. doi: 10.1039/c3pp50023c.

Costa AR, Vasudevan A, Krepischi A, Rosenberg C, Chauffaille Mde L. Single-nucleotide polymorphism-array improves detection rate of genomic alterations in core-binding factor leukemia. Med Oncol. 2013;30(2):579. doi: 10.1007/s12032-013-0579-7. Epub 2013 May 1.

CS D’ Angelo, MFM Santos, CA Kim, CM Lourenço, CP Koiffmann. Molecular Diagnosis of Deletions and Duplications Associated with Intellectual Disability and Obesity. Apresentado no Congresso da ASHG – American Society of Human Genetics 2013, Boston, USA.

de Aquino SN, Hoshi R, Bagordakis E, Pucciarelli MG, Messetti AC, Moreira H, Bufalino A, Borges A, Rangel AL, Brito LA, Oliveira Swerts MS, Martelli-Junior H, Line SR, Graner E, Reis SR, Passos-Bueno MR, Coletta RD. MTHFR rs2274976 polymorphism is a risk marker for nonsyndromic cleft lip with or without cleft palate in the Brazilian population. Birth Defects Res A Clin Mol Teratol. 2014 Jan;100(1):30-5. doi: 10.1002/bdra.23199. Epub 2013 Nov 19.

Demasi M, Netto LE, Silva GM, Hand A, de Oliveira CL, Bicev RN, Gozzo F, Barros MH, Leme JM, Ohara E. Redox regulation of the proteasome via S-glutathionylation. Redox Biol. 2013 Dec 14;2:44-51. doi: 10.1016/j.redox.2013.12.003.

Dornelles-Wawruk H, Pic-Taylor A, Rosenberg C, Krepischi AC, Safatle HP, Ferrari I, Mazzeu JF. Complex phenotype associated with 17q21.31 microdeletion. Mol Syndromol. 2013 Sep;4(6):297-301. doi: 10.1159/000354120. Epub 2013 Aug 21.

dos Santos SC, Melo US, Lopes SS, Weller M, Kok F. [Could endogamy explain the higher prevalence of disabilities in the population of the Brazilian Northeast?]. Cien Saude Colet. 2013 Apr;18(4):1141-50

 

D’Angelo CS, Kohl I, Varela MC, de Castro CI, Kim CA, Bertola DR, Lourenço CM, Perez AB, Koiffmann CP. Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants. Am J Med Genet A. 2013 Mar;161A(3):479-86. doi: 10.1002/ajmg.a.35761. Epub 2013 Feb 7.

Ferreira de Almeida T, Bertola DR. Microdeletion 11q13.1.q13.2 in a patient presenting with developmental delay, facial dysmorphism, and esophageal atresia: possible role of the GSTP1 gene in esophagus malformation. Birth Defects Res A Clin Mol Teratol. 2013 Jul;97(7):463-6. doi: 10.1002/bdra.23115. Epub 2013 Jul 4.

Fonseca AC, Bonaldi A, Bertola DR, Kim CA, Otto PA, Vianna-Morgante AM. The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, Rua do Matão 277, São Paulo 05508-090, Brazil. BMC Med Genet. 2013 May 7;14:50. doi: 10.1186/1471-2350-14-50.

Griesi-Oliveira K, Sunaga DY, Alvizi L, Vadasz E, Passos-Bueno MR. Stem Cells as a Good Tool to Investigate Dysregulated Biological Systems in Autism Spectrum Disorders. Autism Res. 2013 Oct;6(5):354-61. doi: 10.1002/aur.1296. Epub 2013 Jun 25.

Gurgel-Giannetti J, Nogales-Gadea G, van der Linden H Jr, Bellard TM, Brasileiro Filho G, Giannetti AV, de Castro Concentino EL, Vainzof M. Clinical and Molecular Characterization of Mcardle’s Disease in Brazilian Patients. Neuromolecular Med. 2013 Sep;15(3):470-5. doi: 10.1007/s12017-013-8233-2. Epub 2013 May 8.

Gurgel-Giannetti J, Oliveira G, Brasileiro Filho G, Martins P, Vainzof M, Hirano M. Mitochondrial Cardioencephalomyopathy Due to a Novel SCO2 Mutation in a Brazilian Patient: Case Report and Literature Review. JAMA Neurol. 2013 Feb 1;70(2):258-61. doi: 10.1001/jamaneurol.2013.595

Haddad DM, Vilain S, Vos M, Esposito G, Matta S, Kalscheuer VM, Craessaerts K, Leyssen M, Nascimento RM, Vianna-Morgante AM, De Strooper B, Van Esch H, Morais VA, Verstreken P. Mutations in the intellectual disability gene ube2a cause neuronal dysfunction and impair parkin-dependent mitophagy. Mol Cell. 2013 Jun 27;50(6):831-43. doi: 10.1016/j.molcel.2013.04.012. Epub 2013 May 16.

Hsu SC, Sears RL, Lemos RR, Quintáns B, Huang A, Spiteri E, Nevarez L, Mamah C, Zatz M, Pierce KD, Fullerton JM, Adair JC, Berner JE, Bower M, Brodaty H, Carmona O, Dobricić V, Fogel BL, García-Estevez D, Goldman J, Goudreau JL, Hopfer S, Janković M, Jaumà S, Jen JC, Kirdlarp S, Klepper J, Kostić V, Lang AE, Linglart A, Maisenbacher MK, Manyam BV, Mazzoni P, Miedzybrodzka Z, Mitarnun W, Mitchell PB, Mueller J, Novaković I, Paucar M, Paulson H, Simpson SA, Svenningsson P, Tuite P, Vitek J, Wetchaphanphesat S, Williams C, Yang M, Schofield PR, de Oliveira JR, Sobrido MJ, Geschwind DH, Coppola G. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification. Neurogenetics. 2013 Feb;14(1):11-22. doi: 10.1007/s10048-012-0349-2. Epub 2013 Jan 20.

Hu Y, Chen IP, de Almeida S, Tiziani V, Do Amaral CM, Gowrishankar K, Passos-Bueno MR, Reichenberger EJ. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS One. 2013 Aug 12;8(8):e73576. doi: 10.1371/journal.pone.0073576. eCollection 2013.

Izzo G, Freitas ÉL, Krepischi AC, Pearson PL, Vasques LR, Passos-Bueno MR, Bertola DR, Rosenberg C. A microduplication of 5p15.33 reveals CLPTM1L as a candidate gene for cleft lip and palate. Eur J Med Genet. 2013 Apr;56(4):222-5. doi: 10.1016/j.ejmg.2013.01.002. Epub 2013 Feb 8.

Keller A, Westenberger A, Sobrido MJ, García-Murias M, Domingo A, Sears RL, Lemos RR, Ordoñez-Ugalde A, Nicolas G, da Cunha JE, Rushing EJ, Hugelshofer M, Wurnig MC, Kaech A, Reimann R, Lohmann K, Dobričić V, Carracedo A, Petrović I, Miyasaki JM, Abakumova I, Mäe MA, Raschperger E, Zatz M, Zschiedrich K, Klepper J, Spiteri E, Prieto JM, Navas I, Preuss M, Dering C, Janković M, Paucar M, Svenningsson P, Saliminejad K, Khorshid HR, Novaković I, Aguzzi A, Boss A, Le Ber I, Defer G, Hannequin D, Kostić VS, Campion D, Geschwind DH, Coppola G, Betsholtz C, Klein C, Oliveira JR. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet. 2013 Sep;45(9):1077-82. doi: 10.1038/ng.2723. Epub 2013 Aug 4.

Kimura L, Angeli CB, Auricchio MT, Fernandes GR, Pereira AC, Vicente JP, Pereira TV, Mingroni-Netto RC. Multilocus family-based association analysis of seven candidate polymorphisms with essential hypertension in an african-derived semi-isolated brazilian population. Int J Hypertens. 2012;2012:859219. doi: 10.1155/2012/859219. Epub 2012 Sep 26.

Kimura L, Ribeiro-Rodrigues EM, De Mello Auricchio MT, Vicente JP, Batista Santos SE, Mingroni-Netto RC. Genomic ancestry of rural African-derivedpopulations from Southeastern Brazil. Am J Hum Biol. 2013 Jan-Feb;25(1):35-41. doi: 10.1002/ajhb.22335. Epub 2012 Nov 2.

Kobayashi GS, Alvizi L, Sunaga DY, Francis-West P, Kuta A, Almada BV, Ferreira SG, de Andrade-Lima LC, Bueno DF, Raposo-Amaral CE, Menck CF, Passos-Bueno MR. Susceptibility to DNA damage as a molecular mechanism for non-syndromic cleft lip and palate. PLoS One. 2013 Jun 12;8(6):e65677. doi: 10.1371/journal.pone.0065677. Print 2013.

Laurell T, Lundin J, Anderlid BM, Gorski JL, Grigelioniene G, Knight SJ, Krepischi AC, Nordenskjöld A, Price SM, Rosenberg C, Turnpenny PD, Vianna-Morgante AM, Nordgren A. Molecular and clinical delineation of the 17q22 microdeletion phenotype. Eur J Hum Genet. 2013 Oct;21(10):1085-92. doi: 10.1038/ejhg.2012.306. Epub 2013 Jan 30.

Lopes dos Santos M, Yeda FP, Tsuruta LR, Horta BB, Pimenta AA Jr, Degaki TL, Soares IC, Tuma MC, Okamoto OK, Alves VA, Old LJ, Ritter G, Moro AM. Rebmab200, a humanized monoclonal antibody targeting the sodium phosphate transporter NaPi2b displays strong immune mediated cytotoxicity against cancer: a novel reagent for targeted antibody therapy of cancer. PLoS One. 2013 Jul 31;8(7):e70332. doi: 10.1371/journal.pone.0070332. Print 2013.

M. S. Naslavsky, M. L. Lebrao, Y. A. O. Duarte, E. Amaro Jr., T. A. B. Mendes, A. S. Rodrigues, G. Bandeira, D. Schlesinger, L. T. Grinberg, C. K. Suemoto, R. E. P. Leite, R. E. L. Ferretti, C. A. Pasqualucci, J. M. Farfel, R. Nitrini, W. Jacob Filho, M. Zatz. APOE e2 homozygous individuals are underrepresented among elderly Brazilian population. Apresentado no Congresso da ASHG – American Society of Human Genetics 2013, Boston, USA.

Maria Berra C, de Oliveira CS, Machado Garcia CC, Reily Rocha CR, Koch Lerner L, de Andrade Lima LC, da Silva Baptista M, Martins Menck CF. Nucleotide excision repair activity on DNA damage induced by photoactivated methylene blue. Free Radic Biol Med. 2013 Apr 6;61C:343-356. doi: 10.1016/j.freeradbiomed.2013.03.026. [Epub ahead of print]

Martins PC, Ayub-Guerrieri D, Martins-Bach AB, Onofre-Oliveira P, Malheiros JM, Tannus A, de Sousa PL, Carlier PG, Vainzof M. Dmdmdx/Largemyd a new mouse model for neuromuscular diseases useful for studying physiopathological mechanisms and testing therapies. Dis Model Mech. 2013 Sep;6(5):1167-74. doi: 10.1242/dmm.011700. Epub 2013 Jun 20.

Mingroni-Netto, RC, Dantas, VGL; Freitas, EL; Moraes, AMSM ; Braga, MCC; Ramos, SB , Rosenberg, C; Della-Rosa, VA. Duplication of EYA causes Branchiootic Syndrome in a Brazilian family. Apresentado no Congresso da ASHG – American Society of Human Genetics 2013, Boston, USA.

Mokbel N, Ilkovski B, Kreissl M, Memo M, Jeffries CM, Marttila M, Lehtokari VL, Lemola E, Grönholm M, Yang N, Menard D, Marcorelles P, Echaniz-Laguna A, Reimann J, Vainzof M, Monnier N, Ravenscroft G, McNamara E, Nowak KJ, Laing NG, Wallgren-Pettersson C, Trewhella J, Marston S, Ottenheijm C, North KN, Clarke NF. K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity. Brain. 2013 Feb;136(Pt 2):494-507. doi: 10.1093/brain/aws348. Epub 2013 Jan 31.

Moreira MC, Piazzon FB, Carvalho MD, Quaio CR, Dutra AB, Ceccon ME, Della-Manna T, Tannuri U, Lee JH, Zerbini MC, Bellanne-Chantelot C, Lonlay P, Bertola DR, Kim CA. A dominant ABCC8-related hyperinsulinism: familial case report. Moreira et al. ABCC8-related hyperinsulinism. Fetal Pediatr Pathol. 2013 Oct;32(5):384-6. doi: 10.3109/15513815.2012.754531. Epub 2013 Jan 10.

Moretti-Almeida G, Netto LE, Monteiro G. The essential gene YMR134W from Saccharomyces cerevisiae is important for appropriate mitochondrial iron utilization and the ergosterol biosynthetic pathway. FEBS Lett. 2013 Sep 17;587(18):3008-13. doi: 10.1016/j.febslet.2013.07.024. Epub 2013 Jul 23.

North KN, Wang CH, Clarke N, Jungbluth H, Vainzof M, Dowling JJ, Amburgey K, Quijano-Roy S, Beggs AH, Sewry C, Laing NG, Bönnemann CG; International Standard of Care Committee for Congenital Myopathies. Approach to the diagnosis of congenital myopathies. Neuromuscul Disord. 2014 Feb;24(2):97-116. doi: 10.1016/j.nmd.2013.11.003. Epub 2013 Nov 18.

Ortegosa MV, Bertola DR, Aguena M, Passos-Bueno MR, Kim CA, de Faria ME. Challenges in the Orthodontic Treatment of a Patient With Pycnodysostosis. Cleft Palate Craniofac J. 2013 Jun 20. [Epub ahead of print]

Ortolan TG, Menck CF. UVB-induced cell death signaling is associated with G1-S progression and transcription inhibition in primary human fibroblasts. PLoS One. 2013 Oct 14;8(10):e76936. doi: 10.1371/journal.pone.0076936. eCollection 2013.

Paim JF, Cotta A, Vargas AP, Navarro MM, Valicek J, Carvalho E, da-Cunha AL Jr, Plentz E, Braz SV, Takata RI, Almeida CF, Vainzof M. Muscle phenotypic variability in limb girdle muscular dystrophy 2 G. Surgical Pathology Department, SARAH Network of Rehabilitation Hospitals, Belo Horizonte, Brazil. J Mol Neurosci. 2013 Jun;50(2):339-44. doi: 10.1007/s12031-013-9987-6. Epub 2013 Mar 12.

Paranaíba LM, de Aquino SN, Bufalino A, Martelli-Júnior H, Graner E, Brito LA, e Passos-Bueno MR, Coletta RD, Swerts MS. Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population. Med Oral Patol Oral Cir Bucal. 2013 May 1;18(3):e414-20.

Quaio CR, de Almeida TF, Brasil AS, Pereira AC, Jorge AA, Malaquias AC, Kim CA, Bertola DR. Tegumentary manifestations of Noonan and Noonan-related syndromes. Clinics (Sao Paulo). 2013;68(8):1079-83. doi: 10.6061/clinics/2013(08)03.

Raposo-Amaral CE, Tong A, Denadai R, Yalom A, Raposo-Amaral CA, Bertola D, Li A, Jarrahy R. A subcranial Le Fort III advancement with distraction osteogenesis as a clinical strategy to approach pycnodysostosis with midface retrusion and exorbitism. J Craniofac Surg. 2013 Jul;24(4):1327-30. doi: 10.1097/SCS.0b013e31829978a5.

Rocha CR, Lerner LK, Okamoto OK, Marchetto MC, Menck CF. The role of DNA repair in the pluripotency and differentiation of human stem cells. Mutat Res. 2013 Jan-Mar;752(1):25-35.

Sandbacka M, Laivuori H, Freitas É, Halttunen M, Jokimaa V, Morin-Papunen L, Rosenberg C, Aittomäki K. TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia. Orphanet J Rare Dis. 2013 Aug 16;8:125. doi: 10.1186/1750-1172-8-125.

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. 2013 Feb;9(1):93-109. doi: 10.1007/s12015-012-9380-9.

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. Does germ-line deletion of the PIP gene constitute a widespread risk for cancer? Eur J Hum Genet. 2014 Mar;22(3):307-9. doi: 10.1038/ejhg.2013.134. Epub 2013 Jun 19.

Silva AG, Lisboa BC, Achatz MI, Carraro DM, da Cunha IW, Pearson PL, Krepischi AC, Rosenberg C. Germline BAX deletion in a patient with melanoma and gastrointestinal stromal tumor. Am J Gastroenterol. 2013 Aug;108(8):1372-5. doi: 10.1038/ajg.2013.176.

Silva AG, Maschietto M, Vidal DO, Peliçario LM, Velloso ED, Lopes LF, Krepischi AC, Rosenberg C. Array-CGH as an adjuvant tool in cytogenetic diagnosis of pediatric MDS and JMML. Med Oncol. 2013 Dec;30(4):734. doi: 10.1007/s12032-013-0734-1. Epub 2013 Oct 2.

Soltys DT, Rocha CR, Lerner LK, de Souza TA, Munford V, Cabral F, Nardo T, Stefanini M, Sarasin A, Cabral-Neto JB, Menck CF. Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress. Hum Mutat. 2013 Mar;34(3):481-9. doi: 10.1002/humu.22259. Epub 2013 Jan 17.

Stofanko M, Gonçalves-Dornelas H, Cunha PS, Pena HB, Vianna-Morgante AM, Pena SD. Simple, rapid and inexpensive quantitative fluorescent PCR method for detection of microdeletion and microduplication syndromes. PLoS One. 2013 Apr 19;8(4):e61328. doi: 10.1371/journal.pone.0061328. Print 2013.

Tanikawa DY, Aguena M, Bueno DF, Passos-Bueno MR, Alonso N. Fat grafts supplemented with adipose-derived stromal cells in the rehabilitation of patients with craniofacial microsomia. Plast Reconstr Surg. 2013 Jul;132(1):141-52. doi: 10.1097/PRS.0b013e3182910a82.

Valente KD, Varela MC, Koiffmann CP, Andrade JQ, Grossmann R, Kok F, Marques-Dias MJ. Angelman syndrome caused by deletion: a genotype-phenotype correlation determined by breakpoint. Epilepsy Res. 2013 Jul;105(1-2):234-9. doi: 10.1016/j.eplepsyres.2012.12.005. Epub 2013 Jan 23.

Vessoni AT, Filippi-Chiela EC, Menck CF, Lenz G. Autophagy and genomic integrity. Cell Death Differ. 2013 Nov;20(11):1444-54. doi: 10.1038/cdd.2013.103. Epub 2013 Aug 9.

Viana EC, Araujo-Dasilio KL, Miguel GP, Bressan J, Lemos EM, Moyses MR, de Abreu GR, de Azevedo JL, Carvalho PS, Passos-Bueno MR, Errera FI, Bissoli NS. Gastric bypass and sleeve gastrectomy: the same impact on IL-6 and TNF-α. Prospective clinical trial. Obes Surg. 2013 Aug;23(8):1252-61. doi: 10.1007/s11695-013-0894-2.

Villela D, Kimura L, Schlesinger D, Gonçalves A, Pearson PL, Suemoto CK, Pasqualucci C, Krepischi AC, Grinberg LT, Rosenberg C. Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene. Genet Mol Biol. 2013 Dec;36(4):498-501. doi: 10.1590/S1415-47572013000400006. Epub 2013 Nov 8.

Yeh E, Fanganiello RD, Sunaga DY, Zhou X, Holmes G, Rocha KM, Alonso N, Matushita H, Wang Y, Jabs EW, Passos-Bueno MR. Novel molecular pathways elicited by mutant FGFR2 may account for brain abnormalities in Apert syndrome. PLoS One. 2013 Apr 4;8(4):e60439. doi: 10.1371/journal.pone.0060439. Print 2013.

Zatz M, Pavanello RC. Steroids in Duchenne dystrophy. Human Genome and Stem-Cell Research Center, Institute of Biosciences, University of São Paulo, São Paulo, Brazil.