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Results: 1-22 |
Results: 22
Clinical spectrum of fibroblast growth factor receptor mutations (vol 14, pg 115, 1999)
Authors: Passos-Bueno, MR Wilcox, WR Jabs, EW Sertie, AL Alonso, LG Kitoh, H
Citation: Mr. Passos-bueno et al., Clinical spectrum of fibroblast growth factor receptor mutations (vol 14, pg 115, 1999), HUM MUTAT, 17(5), 2001, pp. 431-431
Dysferlin protein analysis in limb-girdle muscular dystrophies
Authors: Vainzof, M Anderson, LVB McNally, EM Davis, DB Faulkner, G Valle, G Moreira, ES Pavanello, RCM Passos-Bueno, MR Zatz, M
Citation: M. Vainzof et al., Dysferlin protein analysis in limb-girdle muscular dystrophies, J MOL NEURO, 17(1), 2001, pp. 71-80
A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma
Authors: Iughetti, P Suzuki, O Godoi, PHC Alves, VAF Sertie, AL Zorick, T Soares, F Camargo, A Moreira, ES di Loreto, C Moreira, CA Simpson, A Oliva, G Passos-Bueno, MR
Citation: P. Iughetti et al., A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma, CANCER RES, 61(20), 2001, pp. 7375-7378
Analysis of the serotonin transporter polymorphism (5-HTTLPR) in Brazilianpatients affected by dysthymia, major depression and bipolar disorder
Authors: Oliveira, JRM Carvalho, DR Pontual, D Gallindo, RM Sougey, EB Gentil, V Lafer, B Maia, LGS Morais, MA Matioli, S Vallada, H Moreno, RA Nishimura, A Otto, PA Passos-Bueno, MR Zatz, M
Citation: Jrm. Oliveira et al., Analysis of the serotonin transporter polymorphism (5-HTTLPR) in Brazilianpatients affected by dysthymia, major depression and bipolar disorder, MOL PSYCHI, 5(4), 2000, pp. 348-349
Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes
Authors: Zatz, M Vainzof, M Passos-Bueno, MR
Citation: M. Zatz et al., Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes, CURR OP NEU, 13(5), 2000, pp. 511-517
Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations
Authors: Bernardino, ALF Ferri, A Passos-Bueno, MR Kim, CEA Nakaie, CMA Gomes, CET Damaceno, N Zatz, M
Citation: Alf. Bernardino et al., Molecular analysis in Brazilian cystic fibrosis patients reveals five novel mutations, GENET TEST, 4(1), 2000, pp. 69-74
Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
Authors: Moreira, ES Wiltshire, TJ Faulkner, G Nilforoushan, A Vainzof, M Suzuki, OT Valle, G Reeves, R Zatz, M Passos-Bueno, MR Jenne, DE
Citation: Es. Moreira et al., Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin, NAT GENET, 24(2), 2000, pp. 163-166
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes
Authors: Splendore, A Silva, EO Alonso, LG Richieri-Costa, A Alonso, N Rosa, A Carakushanky, G Cavalcanti, DP Brunoni, D Passos-Bueno, MR
Citation: A. Splendore et al., High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes, HUM MUTAT, 16(4), 2000, pp. 315-322
Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome)
Authors: Sertie, AL Sossi, V Camargo, AA Zatz, M Brahe, C Passos-Bueno, MR
Citation: Al. Sertie et al., Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure (Knobloch syndrome), HUM MOL GEN, 9(13), 2000, pp. 2051-2058
Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia
Authors: Iughetti, P Alonso, LG Wilcox, W Alonso, N Passos-Bueno, MR
Citation: P. Iughetti et al., Mapping of the autosomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia, AM J MED G, 95(5), 2000, pp. 482-491
Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: Analysis of muscle beta 1 syntrophin
Authors: Rocco, P Vainzof, M Froehner, SC Peters, MF Marie, SKN Passos-Bueno, MR Zatz, M
Citation: P. Rocco et al., Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: Analysis of muscle beta 1 syntrophin, AM J MED G, 92(2), 2000, pp. 122-127
Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family
Authors: Vainzof, M Moreira, ES Canovas, M Anderson, LVB Pavanello, RCM Passos-Bueno, MR Zatz, M
Citation: M. Vainzof et al., Partial alpha-sarcoglycan deficiency with retention of the dystrophin-glycoprotein complex in a LGMD2D family, MUSCLE NERV, 23(6), 2000, pp. 984-988
Serum creatine kinase in progressive muscular dystrophies
Authors: Zatz, M Vainzof, M Passos-Bueno, MR
Citation: M. Zatz et al., Serum creatine kinase in progressive muscular dystrophies, METH MOL M, 43, 2000, pp. 31-49
Clinical and molecular analysis of spinal muscular atrophy in Brazilian patients
Authors: Kim, CA Passos-Bueno, MR Marie, SK Cerqueira, A Conti, U Marques-Dias, MJ Gonzalez, CH Zatz, M
Citation: Ca. Kim et al., Clinical and molecular analysis of spinal muscular atrophy in Brazilian patients, GENET MOL B, 22(4), 1999, pp. 487-492
Clinical spectrum of fibroblast growth factor receptor mutations
Authors: Passos-Bueno, MR Wilcox, WR Jabs, EW Sertie, AL Alonso, LG Kitoh, H
Citation: Mr. Passos-bueno et al., Clinical spectrum of fibroblast growth factor receptor mutations, HUM MUTAT, 14(2), 1999, pp. 115-125
Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin-glycoprotein complex
Authors: Vainzof, M Moreira, ES Ferraz, G Passos-Bueno, MR Marie, SK Zatz, M
Citation: M. Vainzof et al., Further evidence for the organisation of the four sarcoglycans proteins within the dystrophin-glycoprotein complex, EUR J HUM G, 7(2), 1999, pp. 251-254
Role of the C677T polymorphism at the MTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate: Results from a case-control study in Brazil
Authors: Gaspar, DA Pavanello, RC Zatz, M Passos-Bueno, MR Andre, M Steman, S Wyszynski, DF Matiolli, SR
Citation: Da. Gaspar et al., Role of the C677T polymorphism at the MTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate: Results from a case-control study in Brazil, AM J MED G, 87(2), 1999, pp. 197-199
Genetic counseling for childless women at risk for Duchenne muscular dystrophy
Authors: Eggers, S Pavanello, RCM Passos-Bueno, MR Zatz, M
Citation: S. Eggers et al., Genetic counseling for childless women at risk for Duchenne muscular dystrophy, AM J MED G, 86(5), 1999, pp. 447-453
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: From LGMD2A to LGMD2G
Authors: Passos-Bueno, MR Vainzof, M Moreira, ES Zatz, M
Citation: Mr. Passos-bueno et al., Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: From LGMD2A to LGMD2G, AM J MED G, 82(5), 1999, pp. 392-398
Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population
Authors: Vainzof, M Passos-Bueno, MR Pavanello, RCM Marie, SK Oliveira, ASB Zatz, M
Citation: M. Vainzof et al., Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population, J NEUR SCI, 164(1), 1999, pp. 44-49
Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1
Authors: Sertie, AL Sousa, AV Steman, S Pavanello, RC Passos-Bueno, MR
Citation: Al. Sertie et al., Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1, AM J HU GEN, 65(2), 1999, pp. 433-440
Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers
Authors: Sumita, DR Vainzof, M Campiotto, S Cerqueira, AM Canovas, M Otto, PA Passos-Bueno, MR Zatz, M
Citation: Dr. Sumita et al., Absence of correlation between skewed X inactivation in blood and serum creatine-kinase levels in Duchenne/Becker female carriers, AM J MED G, 80(4), 1998, pp. 356-361
Risultati: 1-22 |