Publicações

 Braga MCC, Otto PA. Aconselhamento genético da deficiência auditiva. Rev. Med. 2001; 80(1): 1-6.

 

 

 Fridman C, Kok F, Koiffmann CP. Síndrome de Prader-Willi em lactentes hipotônicos.  Jornal de Pediatria, 2000; 76(3): p.246-250.

 Fridman C, Santos M, Ferrari I, Koiffmann CP.  A further Angelman syndrome patient with UPD15 due to paternal meiosis II nondisjunction.  Clin Genet. 2000 Jan;57(1):86-7.

 Lughetti P, Suzuki O, Godoi PH, Alves VA, Sertié AL, Zorick T, Soares F, Camargo A, Moreira ES, di Loreto C, Moreira-Filho CA, Simpson A, Oliva G, Passos-Bueno MR. Polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma. Cancer Res. 2001 Oct 15;61(20):7375-8.

 

 

Abe KT, Lino AM, Hirata MT, Pavanello RC, Brotto MW, Marchiori PE, Zatz M.  A novel stop codon mutation in the PMP22 gene associated with a variable phenotype. Neuromuscul Disord. 2004 May;14(5):313-20.

Abe KT, Zatz M. Neuropatias periféricas hereditárias. In : Doenças genéticas em pediatria (Gerson Carakushansky, organ.) EditoraGuanabara –Koogan, 2001;pág. 301-308.

 

Abreu-Silva RS, Batissoco AC, Lezirovitz K, Romanos J, Rincon D, Auricchio MT, Otto PA, Mingroni-Netto RC.  Correspondence regarding Ballana et al., “Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment”. Biochem Biophys Res Commun. 2006 May 12;343(3):675-6. Epub 2006 Mar 20.

Abreu-Silva RS, Lezirovitz K, Braga MC, Spinelli M, Pirana S, Della-Rosa VA, Otto PA, Mingroni-Netto RC.  Prevalence of the A1555G (12S rRNA) and tRNASer(UCN) mitochondrial mutations in hearing-impaired Brazilian patients. Braz J Med Biol Res. 2006 Feb;39(2):219-26. Epub 2006 Feb 2.

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). Annals of Human Biology; 38(2):210-8, 2011

Adoni T, Lino AM, Marchiori PE, Kok F, Callegaro D.  Seroprevalence of NMO-IgG antibody in Brazilian patients with neuromyelitis optica.  Arq Neuropsiquiatr. 2008 Jun;66(2B):295-7.

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

Ambrósio CE, Valadares MC, Zucconi E, Cabral R, Pearson PL, Gaiad TP, Canovas M, Vainzof M, Miglino MA, Zatz M.  Ringo, a Golden Retriever Muscular Dystrophy (GRMD) dog with absent dystrophin but normal strength. Neuromuscul Disord. 2008 Nov;18(11):892-3. Epub 2008 Jul 29.

 

Amorim GC, Pinheiro AS, Netto LE, Valente AP, Almeida FC.  NMR solution structure of the reduced form of thioredoxin 2 from Saccharomyces cerevisiae. J Biomol NMR. 2007 May;38(1):99-104. Epub 2007 Mar 6.

 

 

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.

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].

Angeli CB, Capelli LP, Auricchio MT, Leal-Mesquita ER, Ribeiro-dos-Santos AK, Ferrari I, Oliveira SF, Klautau-Guimarães Mde N, Vianna-Morgante AM, Mingroni-Netto RC.  AGG interspersion patterns in the CGG repeat of the FMR1 gene and linked DXS548/FRAXAC1 haplotypes in Brazilian populations. Am J Med Genet A. 2005 Jan 15;132A(2):210-4.

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 19: 1244-1251, 2011

Antonini S, Kim CA, Sugayama SM, Vianna-Morgante AM. Delimitation of duplicated segments and identification of their parental origin in two partial chromosome 3p duplicationsAm J Med Genet. 2002 Nov 22;113(2):144-50.

 Arashiro P, Eisenberg I, Kho AT, Cerqueira AM, Canovas M, Silva HC, Pavanello RC, Verjovski-Almeida S, Kunkel LM, Zatz M.  Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers. Proc Natl Acad Sci U S A. 2009 Apr 14;106(15):6220-5.

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.

Armelini MG, Lima-Bessa KM, Marchetto MC, Muotri AR, Chiganças V, Leite RA, Carvalho H, Menck CF.  Exploring DNA damage responses in human cells with recombinant adenoviral vectors. Hum Exp Toxicol. 2007 Nov;26(11):899-906.

 

Arnold DR, Fortier AL, Lefebvre R, Miglino MA, Pfarrer C, Smith LC.  Placental insufficiencies in cloned animals – a workshop report. Placenta. 2008 Mar;29 Suppl A:S108-10. Epub 2008 Feb 20.

 

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.

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.

Bahia VS, Kok F, Marie SN, Shinjo SO, Caramelli P, Nitrini R.  Polymorphisms of APOE and LRP genes in Brazilian individuals with Alzheimer disease. Alzheimer Dis Assoc Disord. 2008 Jan-Mar;22(1):61-5.

 

Barbirato C, Almeida MG, Milanez M, Sipolatti V, Rebouças MR, Akel AN Jr, Nunes VR, Perrone AM, Zatz M, Louro ID, Paula F. A novel COL1A1 gene-splicing mutation (c.1875+1G>C) in a Brazilian patient with osteogenesis imperfecta. Genet Mol Res. 2009 Feb 17;8(1):173-8.

Barbosa AC, Otto PA, Vianna-Morgante AM. Replication timing of homologous alpha-satellite DNA in Roberts syndrome. Chromosome Res. 2000;8(7):645-50.
 

Barbosa JA, Netto LE, Farah CS, Schenkman S, Meneghini R.  The structural molecular biology network of the State of São Paulo, Brazil. An Acad Bras Cienc. 2006 Jun;78(2):241-53. Epub 2006 May 11.

 

Batissoco AC, Abreu-Silva RS, Braga MC, Lezirovitz K, Della-Rosa V, Alfredo T Jr, Otto PA, Mingroni-Netto RC. Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling. Ear Hear. 2009 Feb;30(1):1-7.

 

Batissoco AC, Auricchio MT, Kimura L, Tabith-Junior A, Mingroni-Netto RC.  A novel missense mutation p.L76P in the GJB2 gene causing nonsyndromic recessive deafness in a Brazilian family. Braz J Med Biol Res. 2009 Feb;42(2):168-71.

 

Batista LF, Chiganças V, Brumatti G, Amarante-Mendes GP, Menck CF.  Involvement of DNA replication in ultraviolet-induced apoptosis of mammalian cellsApoptosis. 2006 Jul;11(7):1139-48.

 

Batista LF, Kaina B, Meneghini R, Menck CF.  How DNA lesions are turned into powerful killing structures: insights from UV-induced apoptosis. Mutat Res. 2009 Mar-Jun;681(2-3):197-208.

 

Batista LF, Kaina B, Meneghini R, Menck CF.  How DNA lesions are turned into powerful killing structures: insights from UV-induced apoptosis. Mutat Res. 2009 Mar-Jun;681(2-3):197-208. Epub 2008 Sep 19.

 

Batista LF, Roos WP, Christmann M, Menck CF, Kaina B.  Differential sensitivity of malignant glioma cells to methylating and chloroethylating anticancer drugs: p53 determines the switch by regulating xpc, ddb2, and DNA double-strand breaks. Cancer Res. 2007 Dec 15;67(24):11886-95.

 

Batista LF, Roos WP, Kaina B, Menck CF.  p53 mutant human glioma cells are sensitive to UV-C-induced apoptosis due to impaired cyclobutane pyrimidine dimer removal. Mol Cancer Res. 2009 Feb;7(2):237-46.

 

Bauters M, Van Esch H, Friez MJ, Boespflug-Tanguy O, Zenker M, Vianna-Morgante AM, Rosenberg C, Ignatius J, Raynaud M, Hollanders K, Govaerts K, Vandenreijt K, Niel F, Blanc P, Stevenson RE, Fryns JP, Marynen P, Schwartz CE, Froyen G.  Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res. 2008 Jun;18(6):847-58. Epub 2008 Apr 2.

 

Bernardino AL, Ferri A, Passos-Bueno MR, Kim CE, Nakaie CM, Gomes CE, Damaceno N, Zatz M. Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations.Genet Test. 2000;4(1):69-74.

Bernardino ALF, Lima CE, Zatz M. Analysis of mutations in the cystic fibrosis transmembrane regulator (CFTR) gene in patients with obstructive azoospermia. Genetics and Molecular Biology 2003; 26,1,1-3.

 

Bertipaglia I, Carafoli E.  Calpains and human disease.  Subcell Biochem. 2007;45:29-53.

Bertola D, 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. 

Bertola D, Amaral C, Kim C, Albano L, Aguena M, Passos-Bueno MR.  Craniosynostosis in pycnodysostosis: broadening the spectrum of the cranial flat bone abnormalities. Am J Med Genet A. 2010 Oct;152A(10):2599-603.

 

Bertola D, Passos-Bueno MR, Pereira A, Kim C, Morgan T, Robertson SP. Recurrence of frontometaphyseal dysplasia in two sisters with a mutation in FLNA and an atypical paternal phenotype: Insights into genotype-phenotype correlation. Am J Med Genet A. 2015 Mar 28. doi: 10.1002/ajmg.a.36981.

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.

Bishop JR, Passos-Bueno MR, Fong L, Stanford KI, Gonzales JC, Yeh E, Young SG, Bensadoun A, Witztum JL, Esko JD, Moulton KS.  Deletion of the basement membrane heparan sulfate proteoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans PLoS One. 2010 Nov 10;5(11):e13919.

 

Bleyl SB, Byrne JL, South ST, Dries DC, Stevenson DA, Rope AF, Vianna-Morgante AM, Schoenwolf GC, Kivlin JD, Brothman A, Carey JC.  Brachymesomelic dysplasia with Peters anomaly of the eye results from disruptions of the X chromosome near the SHOX and SOX3 genes. Am J Med Genet A. 2007 Dec 1;143A(23):2785-95.

 

 

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.

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

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.

Braga MC, Abreu-Silva RS, Lezirowitz K, Mingroni-Netto RC. Atualização em genética da surdez não sindrômica. Rev. Med 2001; 14-23.

Braga MC, Otto PA, Frota-Pessoa O. Calculation of recurrence risks for heterogeneous genetic disorders. Am J Med Genet. 2000 Nov 6;95(1):36-42.
 

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, 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; 155(7):1581-7.

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.

Brito LA, Yamamoto GL, Melo S, Malcher C, Ferreira SG, Figueiredo J, Alvizi L, Kobayashi GS, Naslavsky MS, Alonso N, Felix TM, Zatz M, Seruca R, Dos Santos E Passos-Bueno MR. Rare variants in the epithelial cadherin gene underlying the genetic etiology of nonsyndromic cleft lip with or without cleft palate. Hum Mutat. 2015 Jun 29. doi: 10.1002/humu.22827.

Brito, L. A. ; Cruz, L. A. ; Bueno, D. F. ; Bertola, D. ; Aguena, M. ; Passos-Bueno, M. R. Fatores genéticos têm maior contribuição na etiologia das fissuras lábio-palatinas no interior do Ceará (Região Metropolitana do Cariri), Brasil. Brazilian Journal of Craniomaxillofacial Surgery, v. 12, p. 151-154, 2009.

Bueno DF, Kerkis I, Costa AM, Martins MT, Kobayashi GS, Zucconi E, Fanganiello RD, Salles FT, Almeida AB, do Amaral CE, Alonso N, Passos-Bueno MR.  New source of muscle-derived stem cells with potential for alveolar bone reconstruction in cleft lip and/or palate patients. Tissue Eng Part A. 2009 Feb;15(2):427-35.

 

Bueno DF, Kerkis I, Costa AM, Martins MT, Kobayashi GS, Zucconi E, Fanganiello RD, Salles FT, Almeida AB, do Amaral CE, Alonso N, Passos-Bueno MR. New source of muscle-derived stem cells with potential for alveolar bone reconstruction in cleft lip and/or palate patients. Tissue Eng Part A. 2009 Feb;15(2):427-35.

 

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.

Canhão H, Ferreira R, Costa L, Romeu JC, Fonseca JE, Branco J, Barros H.  [Normative data for quantitative ultrasound measurement of the calcaneus in a Portuguese population]  Acta Reumatol Port. 2006 Jan-Mar;31(1):65-73.

 

Capelli LC, Mingroni-Netto RC, Vianna-Morgante, AM.  Structure and stability upon maternal transmission of common and intermediate FMR1 (Fragile X Mental Retardation 1) alleles in a sample of the Brazilian population. Genet Mol Biol 2005; 28:10-15.

Capelli LC, Mingroni-Netto RC, Vianna-Morgante, AM.  Structure and stability upon maternal transmission of common and intermediate FMR1 (Fragile X Mental Retardation 1) alleles in a sample of the Brazilian population.  Genet Mol Biol 2005; 28:10-15.

Capelli LP, Gonçalves MR, Kok F, Leite CC, Nitrini R, Barbosa ER, Vianna-Morgante AM.   Fragile X-associated tremor/ataxia syndrome: intrafamilial variability and the size of the FMR1 premutation CGG repeat. Mov Disord. 2007 Apr 30;22(6):866-70.

 

 

Capelli LP, Gonçalves MR, Leite CC, Barbosa ER, Nitrini R, Vianna-Morgante AM.  The fragile x-associated tremor and ataxia syndrome (FXTAS). Arq Neuropsiquiatr. 2010 Oct;68(5):791-8.

 

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.

Carvalho CM, Zhang F, Liu P, Patel A, Sahoo T, Bacino CA, Shaw C, Peacock S, Pursley A, Tavyev YJ, Ramocki MB, Nawara M, Obersztyn E, Vianna-Morgante AM, Stankiewicz P, Zoghbi HY, Cheung SW, Lupski JR. Complex rearrangements in patients with duplications of MECP2 can occur by fork stalling and template switching. Hum Mol Genet. 2009 Jun 15;18(12):2188-203. Epub 2009 Mar 26.

 

Carvalho E, Honjo R, Magalhães M, Yamamoto G, Rocha K, Naslavsky M, Zatz M, Passos-Bueno MR, Kim C, Bertola D. Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features. Am J Med Genet A. 2015 Feb 7. doi: 10.1002/ajmg.a.36789 

Carvalho H, Ortolan TG, dePaula T, Leite RA, Weinlich R, Amarante-Mendes GP, Menck CF.  Sustained activation of p53 in confluent nucleotide excision repair-deficient cells resistant to ultraviolet-induced apoptosis. DNA Repair (Amst). 2008 Jun 1;7(6):922-31. Epub 2008 Apr 25.

 

Carvalho VM, Kok F.  Determination of serum methylmalonic acid by alkylative extraction and liquid chromatography coupled to tandem mass spectrometry. Anal Biochem. 2008 Oct 1;381(1):67-73. Epub 2008 Jun 20.

 

 

Castilho LV, Lahr MM. Secular trends in growth among urban Brazilian children of European descent. Ann Hum Biol. 2001 Sep-Oct;28(5):564-74.

Catelani AL, Krepischi AC, Kim CA, Kok F, Otto PA, Auricchio MT, Mazzeu JF, Uehara DT, Costa SS, Knijnenburg J, Tabith A Jr, Vianna-Morgante AM, Mingroni-Netto RC, Rosenberg C. Chromosome imbalances in syndromic hearing loss. Clin Genet. 2009 Nov;76(5):458-64. Epub 2009 Oct 6.

 

Charchar FJ, Svartman M, El-Mogharbel N, Ventura M, Kirby P, Matarazzo MR, Ciccodicola A, Rocchi M, D’Esposito M, Graves JA.  Complex events in the evolution of the human pseudoautosomal region 2 (PAR2). Genome Res. 2003 Feb;13(2):281-6.

 

 

 

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.

Cheroki C, Krepischi-Santos AC, Rosenberg C, Jehee FS, Mingroni-Netto RC, Pavanello Filho I, Zanforlin Filho S, Kim CA, Bagnoli VR, Mendonça BB, Szuhai K, Otto PA.  Report of a del22q11 in a patient with Mayer-Rokitansky-Küster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women. Am J Med Genet A. 2006 Jun 15;140(12):1339-42.

 

 

Cheroki C, Krepischi-Santos AC, Szuhai K, Brenner V, Kim CA, Otto PA, Rosenberg C.  Genomic imbalances associated with mullerian aplasia. J Med Genet. 2008 Apr;45(4):228-32. Epub 2007 Nov 26.

 

Chiganças V, Lima-Bessa KM, Stary A, Menck CF, Sarasin A.  Defective transcription/repair factor IIH recruitment to specific UV lesions in trichothiodystrophy syndrome. Cancer Res. 2008 Aug 1;68(15):6074-83.

 

Christofolini DM, Abbud EM, Lipay MV, Costa SS, Vianna-Morgante AM, Bellucco FT, Nogueira SI, Kulikowski LD, Brunoni D, Juliano Y, Ramos MA, Melaragno MI.  Evaluation of clinical checklists for fragile X syndrome screening in Brazilian intellectually disabled males: proposal for a new screening tool. J Intellect Disabil. 2009 Sep;13(3):239-48.

 

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, Cassol-Jr OJ, Constantino LC, Constantino LS, Petronilho F, Tuon L, Vainzof M, Dal-Pizzol F, Quevedo J.  Oxidative variables and antioxidant enzymes activities in the mdx mouse brain. Neurochem Int. 2009 Dec;55(8):802-5. Epub 2009 Aug 12.

 

Comim CM, Hoepers A, Ventura L, Freiberger V, Dominguini D, Mina F, Mendonça BP, Scaini G, Vainzof M, Streck EL, Quevedo J. Activity of Krebs cycle enzymes in mdx mice. Muscle Nerve. 2015 May 12. doi: 10.1002/mus.24704.

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.

Comim CM, Tuon L, Stertz L, Vainzof M, Kapczinski F, Quevedo J.  Striatum brain-derived neurotrophic factor levels are decreased in dystrophin-deficient mice. Neurosci Lett. 2009 Aug 7;459(2):66-8.

 

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 Ade M, Kobayashi GS, Bueno DF, Martins MT, Ferreira Mde C, Passos-Bueno MR, Alonso N.v An experimental model for the study of craniofacial deformities. Acta Cir Bras. 2010 Jun;25(3):264-8.

 

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.

Costa SS., Fonseca AM, Bagnoli VR., Vianna-Morgante AM.  The FMR1 premutation as a cause of premature ovarian failure in Brazilian women. Genet. Mol. Biol. [online]. 2006, vol.29, n.3, pp. 423-428.

 

Cotrim NH, Auricchio MT, Vicente JP, Otto PA, Mingroni-Netto RC. Polymorphic Alu insertions in six Brazilian African-derived populations. Am J Hum Biol. 2004 May-Jun;16(3):264-77.

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.

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.

Cutiño-Jiménez AM, Martins-Pinheiro M, Lima WC, Martín-Tornet A, Morales OG, Menck CF.  Evolutionary placement of Xanthomonadales based on conserved protein signature sequences. Mol Phylogenet Evol. 2010 Feb;54(2):524-34. Epub 2009 Sep 26.

 

da Costa RM, Quayle C, de Fátima Jacysyn J, Amarante-Mendes GP, Sarasin A, Menck CF.  Resistance to ultraviolet-induced apoptosis in DNA repair deficient growth arrested human fibroblasts is not related to recovery from RNA transcription blockage. Mutat Res. 2008 Apr 2;640(1-2):1-7. Epub 2007 Dec 17.

 

da Fonseca IP, Ramos PS, Ruano FA, Duarte AP, Costa JC, Almeida AC, Falcão ML, Fazendeiro MI.  Efficacy of commercial cleansing procedures in eliminating Cryptosporidium parvum oocysts from bivalves. J Eukaryot Microbiol. 2006;53 Suppl 1:S49-51.

 

da Rocha RP, Paquola AC, Marques Mdo V, Menck CF, Galhardo RS.  Characterization of the SOS regulon of Caulobacter crescentus. J Bacteriol. 2008 Feb;190(4):1209-18. Epub 2007 Dec 14.

 

 

de Alencastro G, McCloskey DE, Kliemann SE, Maranduba CM, Pegg AE, Wang X, Bertola DR, Schwartz CE, Passos-Bueno MR, Sertié AL.  New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.  J Med Genet. 2008 Aug;45(8):539-43. Epub 2008 Jun 11.

 

 

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