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Publicações 2005

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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. doi: 10.1016/j.gene.2005.06.004.
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. doi.org/10.1016/j.jhevol.2004.12.001
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. doi: 10.1007/s00439-005-0031-y. 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. doi: 10.1385/JMN:27:2:213.

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. doi.org/10.1590/S0066-782X2005000400011

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 Crystallogr Sect F Struct Biol Cryst Commun. 2005 Apr 1;61(Pt 4):387-90. doi: 10.1107/S174430910500758X. Epub 2005 Mar 24.

Pereira LV , Stabellini R. Initiation of X Chromosome Inactivation . In: Encyclopedia of Genetics, Genomics, Proteomics and Bioinformatics, John Wiley & Sons. UK. July 2005 doi: 10.1002/047001153X.g103316
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. doi: 10.1007/s00439-004-1248-x. 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. doi: 10.1002/humu.20159.

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. doi: 10.1212/01.wnl.0000187073.58307.41.

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. doi: 10.1002/humu.20139.

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. doi: 10.1016/j.nmd.2005.04.009.

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. doi: 10.1016/j.eplepsyres.2005.09.003. 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. doi: 10.1111/j.1399-0004.2005.00377.x.

Vianna-Morgante AM . The ratio of maternal to paternal UPD associated with recessive diseases . Comment Hum Genet. 2005 Jul;117(2-3):288-90. doi: 10.1007/s00439-005-1311-2. 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. doi: 10.1126/science.1111730.