1 - 25 of 32 results for author:"Giugliani R." in Literature citations
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| GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submitted to breast cancer screening. de Aguiar E.S., Giacomazzi J., Schmidt A.V., Bock H., Saraiva-Pereira M.L., Schuler-Faccini L., Duarte Filho D., dos Santos P.A., Giugliani R., Caleffi M. et al. Rev Bras Epidemiol 15:246-255(2012) · Mapped (14) |
| UGT1A1, SLCO1B1, and SLCO1B3 polymorphisms vs. neonatal hyperbilirubinemia: is there an association? Alencastro de Azevedo L., Reverbel da Silveira T., Carvalho C.G., Martins de Castro S., Giugliani R., Matte U. Pediatr. Res. 72:169-173(2012) · Mapped (5) |
| Evidence of a progressive motor dysfunction in Mucopolysaccharidosis type I mice. Baldo G., Mayer F.Q., Martinelli B., Dilda A., Meyer F., Ponder K.P., Giugliani R., Matte U. Behav. Brain Res. 233:169-175(2012) · Mapped (8) |
| Severe phenotype in MPS II patients associated with a large deletion including contiguous genes. Brusius-Facchin A.C., De Souza C.F., Schwartz I.V., Riegel M., Melaragno M.I., Correia P., Moraes L.M., Llerena J. Jr., Giugliani R., Leistner-Segal S. Am. J. Med. Genet. A 158A:1055-1059(2012) · Mapped (6) |
| Genetic studies in a cluster of mucopolysaccharidosis type VI patients in Northeast Brazil. Costa-Motta F.M., Acosta A.X., Abe-Sandes K., Bender F., Schwartz I.V., Giugliani R., Leistner-Segal S. Mol. Genet. Metab. 104:603-607(2011) · Mapped (2) |
| Prevalence of the STK15 F31I polymorphism and its relationship with mammographic density. Giacomazzi J., Aguiar E., Palmero E.I., Schmidt A.V., Skonieski G., Duarte Filho D., Bock H., Saraiva-Pereira M.L., Schuler-Faccini L., Camey S.A. et al. Braz. J. Med. Biol. Res. 44:291-296(2011) · Mapped (9) |
| Polymorphic variants of UGT1A1 in neonatal jaundice in southern Brazil. Carvalho C.G., Castro S.M., Santin A.P., de Azevedo L.A., Pereira M.L., Giugliani R. J. Trop. Pediatr. 56:366-367(2010) · Mapped (15) |
| New GLB1 mutation in siblings with Morquio type B disease presenting with mental regression. Mayer F.Q., Pereira F.d.o.s. S., Fensom A.H., Slade C., Matte U., Giugliani R. Mol. Genet. Metab. 96:148-148(2009) · Mapped (6) |
| The polymorphism of the serotonin-2A receptor T102C is associated with age. Jobim P.F., Prado-Lima P.A., Schwanke C.H., Giugliani R., Cruz I.B. Braz. J. Med. Biol. Res. 41:1018-1023(2008) · Mapped (2) |
| Detection of R337H, a germline TP53 mutation predisposing to multiple cancers, in asymptomatic women participating in a breast cancer screening program in Southern Brazil. Palmero E.I., Schuler-Faccini L., Caleffi M., Achatz M.I., Olivier M., Martel-Planche G., Marcel V., Aguiar E., Giacomazzi J., Ewald I.P. et al. Cancer Lett. 261:21-25(2008) · Mapped (32) |
| Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients. Raskin S., Pereira-Ferrari L., Reis F.C., Abreu F., Marostica P., Rozov T., Cardieri J., Ludwig N., Valentin L., Rosario-Filho N.A. et al. J. Cyst. Fibros. 7:15-22(2008) · Mapped (45) |
| Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. Malfatti E., Bugiani M., Invernizzi F., de Souza C.F., Farina L., Carrara F., Lamantea E., Antozzi C., Confalonieri P., Sanseverino M.T. et al. Brain 130:1894-1904(2007) · Mapped (4) |
| Mutational analysis of 105 mucopolysaccharidosis type VI patients. Karageorgos L., Brooks D.A., Pollard A., Melville E.L., Hein L.K., Clements P.R., Ketteridge D., Swiedler S.J., Beck M., Giugliani R. et al. Hum. Mutat. 28:897-903(2007) · Mapped (2) |
| Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease. Wajner A., Michelin K., Burin M.G., Pires R.F., Pereira M.L., Giugliani R., Coelho J.C. Clin. Biochem. 40:365-369(2007) · Mapped (3) |
| Prevalence of G6PD deficiency in newborns in the south of Brazil. Castro S., Weber R., Dadalt V., Tavares V., Giugliani R. J Med Screen 13:85-86(2006) · Mapped (7) |
| The TP53 mutation, R337H, is associated with Li-Fraumeni and Li-Fraumeni-like syndromes in Brazilian families. Achatz M.I., Olivier M., Le Calvez F., Martel-Planche G., Lopes A., Rossi B.M., Ashton-Prolla P., Giugliani R., Palmero E.I., Vargas F.R. et al. Cancer Lett. 245:96-102(2007) · Mapped (32) |
| Mucopolysaccharidosis type VI: Identification of novel mutations on the arylsulphatase B gene in South American patients. Petry M.F., Nonemacher K., Sebben J.C., Schwartz I.V., Azevedo A.C., Burin M.G., de Rezende A.R., Kim C.A., Giugliani R., Leistner-Segal S. J. Inherit. Metab. Dis. 28:1027-1034(2005) · Mapped (2) |
| The role of methylenetetrahydrofolate reductase in acute lymphoblastic leukemia in a Brazilian mixed population. Zanrosso C.W., Hatagima A., Emerenciano M., Ramos F., Figueiredo A., Felix T.M., Segal S.L., Giugliani R., Guigliani R., Muniz M.T. et al. Leuk. Res. 30:477-481(2006) · Mapped (6) |
| Serum S100B levels in patients with neural tube defects. Netto C.B., Portela L.V., Felix T.M., Souza D.O., Goncalves C.A., Giugliani R. Clin. Chim. Acta 364:275-278(2006) · Mapped (1) |
| Ontogenetic changes in serum S100B in Down syndrome patients. Netto C.B., Portela L.V., Ferreira C.T., Kieling C., Matte U., Felix T., da Silveira T.R., Souza D.O., Goncalves C.A., Giugliani R. Clin. Biochem. 38:433-435(2005) · Mapped (1) |
| Metabolic effects and the methylenetetrahydrofolate reductase (MTHFR) polymorphism associated with neural tube defects in southern Brazil. Felix T.M., Leistner S., Giugliani R. Birth Defects Res. Part A Clin. Mol. Teratol. 70:459-463(2004) · Mapped (6) |
| Allelic heterogeneity in the COH1 gene explains clinical variability in Cohen syndrome. Hennies H.C., Rauch A., Seifert W., Schumi C., Moser E., Al-Taji E., Tariverdian G., Chrzanowska K.H., Krajewska-Walasek M., Rajab A. et al. Am. J. Hum. Genet. 75:138-145(2004) · UniProtKB (1) |
| Mucopolysaccharidosis VII: clinical, biochemical and molecular investigation of a Brazilian family. Schwartz I., Silva L.R., Leistner S., Todeschini L.A., Burin M.G., Pina-Neto J.M., Islam R.M., Shah G.N., Sly W.S., Giugliani R. Clin. Genet. 64:172-175(2003) · UniProtKB (1) |
| Molecular characterization of phenylketonuria in South Brazil. Santana da Silva L.C., Carvalho T.S., da Silva F.B., Morari L., Fachel A.A., Pires R., Refosco L.F., Desnick R.J., Giugliani R., Saraiva Pereira M.L. Mol. Genet. Metab. 79:17-24(2003) · Mapped (6) |
| Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients. Matte U., Yogalingam G., Brooks D., Leistner S., Schwartz I., Lima L., Norato D.Y., Brum J.M., Beesley C., Winchester B. et al. Mol. Genet. Metab. 78:37-43(2003) · UniProtKB (1) · Mapped (6) |