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Publicações 2004

1. 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.

2. 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.

3. Fertuzinhos SM, Oliveira JR, Nishimura AL, Pontual D, Carvalho DR, Sougey EB, Otto PA, Zatz M. Analysis of IL-1alpha, IL-1beta, and IL-1RA [correction of IL-RA] polymorphisms in dysthymia . J Mol Neurosci. 2004;22(3):251-6.

4. Gaspar DA, Matioli SR, Pavanello RC, Araújo BC, Alonso N, Wyszynski D, Passos-Bueno MR. Maternal MTHFR interacts with the offspring’s BCL3 genotypes, but not with TGFA, in increasing risk to nonsyndromic cleft lip with or without cleft palate . Eur J Hum Genet. 2004 Jul;12(7):521-6.

5. Kerkis A, Kerkis I, Rádis-Baptista G, Oliveira EB, Vianna-Morgante AM, Pereira LV, Yamane T. Crotamine is a novel cell-penetrating protein from the venom of rattlesnake Crotalus durissus terrificus . FASEB J. 2004 Sep;18(12):1407-9. Epub 2004 Jul 1.

6. Maranduba CM, Sá Moreira E, Müller Orabona G, Pavanello RC, Vianna-Morgante AM, Passos-Bueno MR. Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation? Am J Med Genet A. 2004 Feb 1;124A(4):413-5.

7. Nishimura Al, Mitne-Neto M ,Silva HCA ,Richieri-Costa ,Middleton S ,Cascio D Kok F , Oliveira JRM ,Gillingwater P , Webb J, Skehel P and Zatz M. A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis . Am J Hum Genet. 2004 November; 75(5): 822–831. Published online 2004 September 15.

8. Nishimura AL, Mitne-Neto M, Silva HC, Oliveira JR, Vainzof M, Zatz M. A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13 . J Med Genet. 2004 Apr;41(4):315-20.

9. Nishimura AL, Oliveira JR, Mitne-Neto M, Guindalini C, Nitrini R, Bahia VS, de Brito-Marques PR, Otto PA, Zatz M. Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer’s disease (LOAD) in Brazilian patients . J Mol Neurosci. 2004;22(3):257-60.

10. Sogayar MC, Camargo AA, Bettoni F, Carraro DM, Pires LC, Parmigiani RB, Ferreira EN, de Sá Moreira E, do Rosário D de O Latorre M, Simpson AJ, Cruz LO, Degaki TL, Festa F, Massirer KB, Sogayar MC, Filho FC, Camargo LP, Cunha MA, De Souza SJ, Faria M Jr, Giuliatti S, Kopp L, de Oliveira PS, Paiva PB, Pereira AA, Pinheiro DG, Puga RD, S de Souza JE, Albuquerque DM, Andrade LE, Baia GS, Briones MR, Cavaleiro-Luna AM, Cerutti JM, Costa FF, Costanzi-Strauss E, Espreafico EM, Ferrasi AC, Ferro ES, Fortes MA, Furchi JR, Giannella-Neto D, Goldman GH, Goldman MH, Gruber A, Guimarães GS, Hackel C, Henrique-Silva F, Kimura ET, Leoni SG, Macedo C, Malnic B, Manzini B CV, Marie SK, Martinez-Rossi NM, Menossi M, Miracca EC, Nagai MA, Nobrega FG, Nobrega MP, Oba-Shinjo SM, Oliveira MK, Orabona GM, Otsuka AY, Paço-Larson ML, Paixão BM, Pandolfi JR, Pardini MI, Passos Bueno MR, Passos GA, Pesquero JB, Pessoa JG, Rahal P, Rainho CA, Reis CP, Ricca TI, Rodrigues V, Rogatto SR, Romano CM, Romeiro JG, Rossi A, Sá RG, Sales MM, Sant’Anna SC, Santarosa PL, Segato F, Silva WA Jr, Silva ID, Silva NP, Soares-Costa A, Sonati MF, Strauss BE, Tajara EH, Valentini SR, Villanova FE, Ward LS, Zanette DL; Ludwig-FAPESP Transcript Finishing Initiative. A transcript finishing initiative for closing gaps in the human transcriptome . Genome Res. 2004 Jul;14(7):1413-23. Epub 2004 Jun 14.

11. Starling A, Kok F, Passos-Bueno MR, Vainzof M, Zatz M. A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21 . Eur J Hum Genet. 2004 Dec;12(12):1033-40.

12. Takata RI, Speck Martins CE, Passosbueno MR, Abe KT, Nishimura AL, Da Silva MD, Monteiro A Jr, Lima MI, Kok F, Zatz M. A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21 . J Med Genet. 2004 Mar;41(3):224-9.

13. Tonini MM, Passos-Bueno MR, Cerqueira A, Matioli SR, Pavanello RC, Zatz M. Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD) . Neuromuscul Disord. 2004 Jan;14(1):33-8.

14. Tonini MM, Pavanello RC, Gurgel-Giannetti J, Lemmers RJ, van der Maarel SM, Frants RR, Zatz M. Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype . J Med Genet. 2004 Feb;41(2):e17. DOI: 10.1136/jmg.2003.010637

15. Tonini MMO, Zatz M. Facioscapulohumeral muscular dystrophy: gender differences and genetic counseling in a complex disorder. FSHD: Clinical Medicine and Molecular Cell Biology. Upadhyaya and Cooper DN (Eds.)Bios Scientific Publishers, London and N.York, p:309-324.

16. Varela MC, Kok F, Otto PA, Koiffmann CP. Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects . Eur J Hum Genet. 2004 Dec;12(12):987-92.

17. Wallgren-Pettersson C, Pelin K, Nowak KJ, Muntoni F, Romero NB, Goebel HH, North KN, Beggs AH, Laing NG; ENMC International Consortium On Nemaline Myopathy. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin . Neuromuscul Disord. 2004 Sep;14(8-9):461-70.

18. Zorick TS, Kleimann S, Sertié A, Zatz M, Rosenberg S, Passos-Bueno MR. Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction . Am J Med Genet A. 2004 Jun 15;127A(3):321-3.