Publicações

2003

Bernardino ALF, Lima CE, Zatz M. Analysis of mutations in the cystic fibrosis transmembrane regulator (CFTR) gene in patients with obstructive azoospermia. Genetics and Molecular Biology 2003; 26,1,1-3.

 

Charchar FJ, Svartman M, El-Mogharbel N, Ventura M, Kirby P, Matarazzo MR, Ciccodicola A, Rocchi M, D’Esposito M, Graves JA.  Complex events in the evolution of the human pseudoautosomal region 2 (PAR2). Genome Res. 2003 Feb;13(2):281-6.

 

 

 

de Paula F, Vieira N, Starling A, Yamamoto LU, Lima B, de Cássia Pavanello R, Vainzof M, Nigro V, Zatz M. Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. Eur J Hum Genet. 2003 Dec;11(12):923-30.

 

Fridman C, Hosomi N, Varela MC, Souza AH, Fukai K, Koiffmann CP. Angelman syndrome associated with oculocutaneous albinism due to an intragenic deletion of the P gene.  Am J Med Genet A. 2003 Jun 1;119A(2):180-3.

 

Gonçalves CR, Antonini S, Vianna-Morgante AM, Machado-Santelli GM, Bevilacqua E. Developmental changes in the ploidy of mouse implanting trophoblast cells in vitro. Histochem Cell Biol. 2003 Mar;119(3):189-98. Epub 2003 Mar 4.

 

Gurgel-Giannetti J, Reed UC, Marie SK, Zanoteli E, Fireman MA, Oliveira AS, Werneck LC, Beggs AH, Zatz M, Vainzof M.  Rod distribution and muscle fiber type modification in the progression of nemaline myopathy. J Child Neurol. 2003 Mar;18(3):235-40.

Kliemann SE, Waetge RT, Suzuki OT, Passos-Bueno MR, Rosemberg S. Evidence of neuronal migration disorders in Knobloch syndrome: clinical and molecular analysis of two novel families. Am J Med Genet A. 2003 May 15;119A(1):15-9.

Krepischi-Santos AC, Vianna-Morgante AM.  Disclosing the mechanisms of origin of de novo short-arm duplications of chromosome 9. Am J Med Genet A. 2003 Feb 15;117A(1):41-6.

Moreira ES, Vainzof M, Suzuki OT, Pavanello RC, Zatz M, Passos-Bueno MR.  Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations. J Med Genet. 2003 Feb;40(2):E12.

Muniz VP, Silva HC, Tsanaclis AM, Vainzof M. Screening for mutations in the RYR1 gene in families with malignant hyperthermia. J Mol Neurosci. 2003;21(1):35-42.

Pardono E, van Bever Y, van den Ende J, Havrenne PC, Iughetti P, Maestrelli SR, Costa F O, Richieri-Costa A, Frota-Pessoa O, Otto PA. Waardenburg syndrome: clinical differentiation between types I and II.  Am J Med Genet A. 2003 Mar 15;117A(3):223-35.

Praxedes LA, Otto PA. Neurofibromatose: aspectos genéticos. In: Neurofibromatose. Ed. Geller M. Guanabara Koogan, RJ.

Rádis-Baptista G, Kubo T, Oguiura N, Svartman M, Almeida TM, Batistic RF, Oliveira EB, Vianna-Morgante AM, Yamane T. Structure and chromosomal localization of the gene for crotamine, a toxin from the South American rattlesnake, Crotalus durissus terrificus. Toxicon. 2003 Dec;42(7):747-52.

Soares-Vieira JA, Billerbeck AE, Iwamura ES, Otto PA. Brazilian population data on the polymerase chain reaction-based loci LDLR, GYPA, HBGG, D7S8, and Gc. Am J Forensic Med Pathol. 2003 Sep;24(3):283-7.

Splendore A, Jabs EW, Félix TM, Passos-Bueno MR.  Parental origin of mutations in sporadic cases of Treacher Collins syndrome. Eur J Hum Genet. 2003 Sep;11(9):718-22.

Starling A, de Paula F, Silva H, Vainzof M, Zatz M.  Calpainopathy: how broad is the spectrum of clinical variability?  J Mol Neurosci. 2003;21(3):233-6.

Svartman M, Vianna-Morgante AM.  Conservation of chromosomal location of nucleolus organizer in American marsupials (Didelphidae). Genetica. 2003 May;118(1):11-6.

Vainzof M, de Paula F, Tsanaclis AM, Zatz M. The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A.  J Clin Pathol. 2003 Aug;56(8):624-6.

Vainzof M, Passos-Bueno MR, Zatz M.  Immunological methods for the analysis of protein expression in neuromuscular diseases. Methods Mol Biol. 2003;217:355-78.

Vainzof M, Zatz M.  Protein defects in neuromuscular diseasesBraz J Med Biol Res. 2003 May;36(5):543-55. Epub 2003 Apr 22.

 

Valente KD, Andrade JQ, Grossmann RM, Kok F, Fridman C, Koiffmann CP, Marques-Dias MJ. Angelman syndrome: difficulties in EEG pattern recognition and possible misinterpretations. Epilepsia. 2003 Aug;44(8):1051-63.

Vargas RA, Maegawa GH, Taucher SC, Leite JC, Sanz P, Cifuentes J, Parra M, Muñoz H, Maranduba CM, Passos-Bueno MR. Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis. Am J Med Genet A. 2003 Aug 15;121A(1):41-6.

Zanoteli E, Lotuffo RM, Oliveira AS, Beggs AH, Canovas M, Zatz M, Vainzof M.  Deficiency of muscle alpha-actinin-3 is compatible with high muscle performance. J Mol Neurosci. 2003 Feb;20(1):39-42.

Zatz M, de Paula F, Starling A, Vainzof M.  The 10 autosomal recessive limb-girdle muscular dystrophies.  Neuromuscul Disord. 2003 Sep;13(7-8):532-44.

Zatz M. Ética: da clonagem aos testes genéticos. Biotecnologia de A a Z: Borém, Almeida e Santos Editores, Viçosa, MG. pp.9-25.2003

 

Zatz M.  Clonagem humana e bancos de cordão para obtenção de células-tronco. Revista Ciência & Ambiente. 2003; pp.41-49.