Publicações

2005

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.

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

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.

Discola KF, Oliveira, MA, Silva GM, Barcena JA, Porras P, Padilla A, Barbosa JARG, Medrano FJ, Netto LES, Guimarães BG.  Crystallization and preliminary X-ray crystallographic studies of glutaredoxin 2 from Saccharomyces cerevisiae in different oxidation states.  Acta Crystall. 2005 F, F61, 445-447.

Frosk P, Greenberg CR, Tennese AA, Lamont R, Nylen E, Hirst C, Frappier D, Roslin NM, Zaik M, Bushby K, Straub V, Zatz M, de Paula F, Morgan K, Fujiwara TM, Wrogemann K. The most common mutation in FKRP causing limb girdle muscular dystrophy type 2I (LGMD2I) may have occurred only once and is present in Hutterites and other populations. Hum Mutat. 2005 Jan;25(1):38-44.

Guindalini C, Scivoletto S, Ferreira R, Nishimura A, Zilberman M L, Peluso MAM, Zatz M.  MAO A polymorphism and alcoholism in males as compared to females. Psychiatric Genetics 2005; 15:,141-144.

Guindalini C, Scivoletto S, Ferreira RG, Breen G, Zilberman M, Peluso MA, Zatz M.  Association of genetic variants in alcohol dehydrogenase 4 with alcohol dependence in Brazilian patients.  Am J Psychiatry. 2005 May;162(5):1005-7.

Jehee FS, Johnson D, Alonso LG, Cavalcanti DP, de Sá Moreira E, Alberto FL, Kok F, Kim C, Wall SA, Jabs EW, Boyadjiev SA, Wilkie AO, Passos-Bueno MR. Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clin Genet. 2005 Jun;67(6):503-10.

Jehee FS, Rosenberg C, Krepischi-Santos AC, Kok F, Knijnenburg J, Froyen G, Vianna-Morgante AM, Opitz JM, Passos-Bueno MR.  An Xq22.3 duplication detected by comparative genomic hybridization microarray (Array-CGH) defines a new locus (FGS5) for FG syndrome. Am J Med Genet A. 2005 Dec 15;139(3):221-6. 

Macedo-Souza LI, Kok F, Santos S, Amorim SC, Starling A, Nishimura A, Lezirovitz K, Lino AM, Zatz M.  Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13. Ann Neurol. 2005 May;57(5):730-7.

Maranduba CM, Friesema EC, Kok F, Kester MH, Jamsen J, Sertie AL, Passos-Bueno MR, Visser TJ.  Decreased T3 uptake and metabolism in Allan-Herdon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter. Published online 2005 Jul 1. doi:  10.1136/jmg.2005.035840​.  J Med Genet. 2006 May; 43(5): 457–460.
 

Masotti C, Armelin-Correa LM, Splendore A, Lin CJ, Barbosa A, Sogayar MC, Passos-Bueno MR.  A functional SNP in the promoter region of TCOF1 is associated with reduced gene expression and YY1 DNA-protein interaction. Gene. 2005 Oct 10;359:44-52.

Neves WA, Hubbe M, Okumura MM, González-José R, Figuti L, Eggers S, De Blasis PA.  A new early Holocene human skeleton from Brazil: implications for the settlement of the New World.  J Hum Evol. 2005 Apr;48(4):403-14.

Nishimura AL, Al-Chalabi A, Zatz M.  A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population. Hum Genet. 2005 Dec;118(3-4):499-500. Epub 2005 Sep 27.

Nishimura AL, Guindalini C, Oliveira JR, Nitrini R, Bahia VS, de Brito-Marques PR, Otto PA, Zatz M.  Monoamine oxidase a polymorphism in Brazilian patients: risk factor for late-onset Alzheimer’s disease? J Mol Neurosci. 2005;27(2):213-7.

Nishioka SA, Martinelli Filho M, Marie S, Zatz M, Costa R.  [Myotonic dystrophy and heart disease: behavior of arrhythmic events and conduction disturbances] Arq Bras Cardiol. 2005 Apr;84(4):330-6. Epub 2005 May 2.

Okumura MM, Eggers S.  The people of Jabuticabeira II: reconstruction of the way of life in a Brazilian shellmound. Homo. 2005;55(3):263-81.

Oliveira MA, Discola KF, Alves SF, Barbosa JARG, Medrano FJ, Netto LES, Guimarães BG.  Crystallization and preliminary X-ray diffraction analysis of NADPH-dependent thioredoxin reductase I from Saccharomyces cerevisiae.  Acta Crystall.2005 F, F61, 387-390.

Pereira LV, Stabellini R.  Initiation of X Chromosome Inactivation. In: Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics, John Wiley & Sons. UK.

Rosenberg C, Knijnenburg J, Chauffaille Mde L, Brunoni D, Catelani AL, Sloos W, Szuhai K, Tanke HJ.  Array CGH detection of a cryptic deletion in a complex chromosome rearrangement.  Hum Genet. 2005 Apr;116(5):390-4. Epub 2005 Feb 22.

Splendore A, Fanganiello RD, Masotti C, Morganti LS, Passos-Bueno MR.  TCOF1 mutation database: novel mutation in the alternatively spliced exon 6A and update in mutation nomenclature. Hum Mutat. 2005 May;25(5):429-34.

Starling A, Schlesinger D, Kok F, Passos-Bueno MR, Vainzof M, Zatz M.  A family with McLeod syndrome and calpainopathy with clinically overlapping diseases. Neurology. 2005 Dec 13;65(11):1832-3.

Suzuki OT, Bagatini K, Sertié AL, Passos-Bueno MR.  How pathogenic is the p.D104N/endostatin polymorphic allele of COL18A1 in Knobloch syndrome?  Hum Mutat. 2005 Mar;25(3):314-5; author reply 316.

Vainzof M, Richard P, Herrmann R, Jimenez-Mallebrera C, Talim B, Yamamoto LU, Ledeuil C, Mein R, Abbs S, Brockington M, Romero NB, Zatz M, Topaloglu H, Voit T, Sewry C, Muntoni F, Guicheney P, Tomé FM.  Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers. Neuromuscul Disord. 2005 Oct;15(9-10):588-94.

Vainzof M, Yamamoto LU, Gouveia TLF, Zatz M. The contribution of protein analysis in the diagnosis of neuromuscular diseases. In: Burgess V.N. Trends in Muscular Dystrophy Research. Nova Publisher, USA.,2005

 

Vainzof M, Yamamoto LU, Kossugue PM, Fogaça LLQ, Velloso FZ, Ayub D, Muniz VP, Zatz M, Silva, HCA, Massironi SMG, Miglino MA, Ambrosio CE, Miyazato LG, Moraes JRE, D’Angeles, FHF, Lacerda Neto JC, Mortari AC, Borges AS, Rezende LAL, Rahal SC.  Modelos Animais ajudando a decifrar doenças neuromusculares humanas.  Neurociencias, , 3 (13): 19-21, 2005.

Valente KD, Fridman C, Varela MC, Koiffmann CP, Andrade JQ, Grossmann RM, Kok F, Marques-Dias MJ.  Angelman syndrome: uniparental paternal disomy 15 determines mild epilepsy, but has no influence on EEG patterns. Epilepsy Res. 2005 Dec;67(3):163-8. Epub 2005 Oct 14.

Varela MC, Kok F, Setian N, Kim CA, Koiffmann CP. Impact of molecular mechanisms, including deletion size, on Prader-Willi syndrome phenotype: study of 75 patients. Clin Genet. 2005 Jan;67(1):47-52.

Vianna-Morgante AM.  The ratio of maternal to paternal UPD associated with recessive diseases. Hum Genet. 2005 Jul;117(2-3):288-90. Epub 2005 May 14.

Zatz M.  Global voices of science. When science is not enough: fighting genetic disease in Brazil. Science. 2005 Apr 1;308(5718):55-7.