São Paulo, 24 de maio de 2013
PortuguêsGenoma
Site do Centro de Estudos do Genoma Humano
A novel stop codon mutation in the PMP22 gene associated with a variable phenotype.
Abe KT, Lino AM, Hirata MT, Pavanello RC, Brotto MW, Marchiori PE, Zatz M.
Neuromuscul Disord. 2004 May;14(5):313-20.
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Polymorphic Alu insertions in six Brazilian African-derived populations.
Cotrim NH, Auricchio MT, Vicente JP, Otto PA, Mingroni-Netto RC.
Am J Hum Biol. 2004 May-Jun;16(3):264-77.
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Analysis of IL-1alpha, IL-1beta, and IL-1RA [correction of IL-RA] polymorphisms in dysthymia.
Fertuzinhos SM, Oliveira JR, Nishimura AL, Pontual D, Carvalho DR, Sougey EB, Otto PA, Zatz M.
J Mol Neurosci. 2004;22(3):251-6.
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Crotamine is a novel cell-penetrating protein from the venom of rattlesnake Crotalus durissus terrificus.
Kerkis A, Kerkis I, Rádis-Baptista G, Oliveira EB, Vianna-Morgante AM, Pereira LV, Yamane T.
FASEB J. 2004 Sep;18(12):1407-9. Epub 2004 Jul 1.
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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.
Gaspar DA, Matioli SR, de Cássia Pavanello R, Araújo BC, Alonso N, Wyszynski D, Passos-Bueno MR.
Eur J Hum Genet. 2004 Jul;12(7):521-6.
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Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?
Maranduba CM, Sá Moreira E, Müller Orabona G, Pavanello RC, Vianna-Morgante AM, Passos-Bueno MR.
Am J Med Genet A. 2004 Feb 1;124A(4):413-5.
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A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis.
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.
Am J Hum Genet. 2004 November; 75(5): 822–831. Published online 2004 September 15.
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A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13.
Nishimura AL, Mitne-Neto M, Silva HC, Oliveira JR, Vainzof M, Zatz M.
J Med Genet. 2004 Apr;41(4):315-20.
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Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer’s disease (LOAD) in Brazilian patients.
Nishimura AL, Oliveira JR, Mitne-Neto M, Guindalini C, Nitrini R, Bahia VS, de Brito-Marques PR, Otto PA, Zatz M.
J Mol Neurosci. 2004;22(3):257-60.
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Fine mapping and clinical reevaluation of a Brazilian pedigree with a severe form of X-linked mental retardation associated with other neurological dysfunction.
Zorick TS, Kleimann S, Sertié A, Zatz M, Rosenberg S, Passos-Bueno MR.
Am J Med Genet A. 2004 Jun 15;127A(3):321-3.
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A transcript finishing initiative for closing gaps in the human transcriptome.
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.
Genome Res. 2004 Jul;14(7):1413-23. Epub 2004 Jun 14.
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A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.
Starling A, Kok F, Passos-Bueno MR, Vainzof M, Zatz M.
Eur J Hum Genet. 2004 Dec;12(12):1033-40.
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A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21.
Takata RI, Speck Martins CE, Passosbueno MR, Abe KT, Nishimura AL, Da Silva MD, Monteiro A Jr, Lima MI, Kok F, Zatz M.
J Med Genet. 2004 Mar;41(3):224-9.
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Facioscapulohumeral muscular dystrophy:gender differences and genetic counseling in a complex disorder.
Tonini MMO, Zatz M.
FSHD: Clinical Medicine and Molecular Cell Biology. Upadhyaya and Cooper DN (Eds.)Bios Scientific Publishers, London and N.York, p:309-324.
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Asymptomatic carriers and gender differences in facioscapulohumeral muscular dystrophy (FSHD).
Tonini MM, Passos-Bueno MR, Cerqueira A, Matioli SR, Pavanello R, Zatz M.
Neuromuscul Disord. 2004 Jan;14(1):33-8.
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Homozygosity for autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) does not result in a more severe phenotype.
Tonini MM, Pavanello RC, Gurgel-Giannetti J, Lemmers RJ, van der Maarel SM, Frants RR, Zatz M.
J Med Genet. 2004 Feb;41(2):e17.
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Phenotypic variability in Angelman syndrome: comparison among different deletion classes and between deletion and UPD subjects.
Varela MC, Kok F, Otto PA, Koiffmann CP.
Eur J Hum Genet. 2004 Dec;12(12):987-92.
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Prader-Willi syndrome with an unusually large 15q deletion due to an unbalanced translocation t(4;15).
Varela MC, Lopes GM, Koiffmann CP.
Ann Genet. 2004 Jul-Sep;47(3):267-73.
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Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.
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.
Neuromuscul Disord. 2004 Sep;14(8-9):461-70.
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