Estimate of the proportion of Duchenne muscular dystrophy with autosomal recessive inheritanceZATZ, M; PASSOS-BUENO, M. R; RAPAPORT, D et al.American journal of medical genetics. 1989, Vol 32, Num 3, pp 407-410, issn 0148-7299, 4 p.Article

Faciocapulohumeral muscular dystrophy : aspects of genetic counselling, acceptance of preclinicla diagnosis, and fitnessEGGERS, S; PASSOS-BUENO, M. R; ZATZ, M et al.Journal of medical genetics. 1993, Vol 30, Num 7, pp 589-592, issn 0022-2593Article

Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacleSPLENDORE, A; JABS, E. W; PASSOS-BUENO, M. R et al.Journal of medical genetics. 2002, Vol 39, Num 7, pp 493-495, issn 0022-2593Article

Familial occurrence of Duchenne dystrophy through paternal lines in four familiesZATZ, M; PASSOS-BUENO, M. R; RAPAPORT, D et al.American journal of medical genetics. 1991, Vol 38, Num 1, pp 80-84, issn 0148-7299, 5 p.Article

Estimates of conditional heterozygosity risks for young females in Duchenne muscular dystrophyPASSOS-BUENO, M. R; OTTO, P. A; ZATZ, M et al.Human heredity. 1989, Vol 39, Num 4, pp 202-211, issn 0001-5652Article

Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population : From LGMD2A to LGMD2GPASSOS-BUENO, M. R; VAINZOF, M; MOREIRA, E. S et al.American journal of medical genetics. 1999, Vol 82, Num 5, pp 392-398, issn 0148-7299Article

Half the dystrophin gene is apparently enough for a mild clinical course: confirmation of its potential use for gene therapyPASSOS-BUENO, M. R; VAINZOF, M; MARIE, S. K et al.Human molecular genetics (Print). 1994, Vol 3, Num 6, pp 919-922, issn 0964-6906Article

Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMDPASSOS-BUENO, M. R; MOREIRA, E. S; VAINZOF, M et al.Human molecular genetics (Print). 1996, Vol 5, Num 6, pp 815-820, issn 0964-6906Article

Absence of correlation between utrophin localization and quantity and the clinical severity in Duchenne/Becker dystrophiesVAINZOF, M; PASSOS-BUENO, M. R; NUGYEN THI MAN et al.American journal of medical genetics. 1995, Vol 58, Num 4, pp 305-309, issn 0148-7299Article

Is dystrophin always altered in Becker muscular dystrophy patients ?VAINZOF, M; PASSOS-BUENO, M. R; PAVANELLO, R. C. M et al.Journal of the neurological sciences. 1995, Vol 131, Num 1, pp 99-104, issn 0022-510XArticle

Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactylyPASSOS-BUENO, M. R; RICHIERI-COSTA, A; SERTIE, A. L et al.Journal of medical genetics. 1998, Vol 35, Num 8, pp 677-679, issn 0022-2593Article

A new DNA marker, D6S129, identifies a HindIII polymorphism on chromosome 6qBYTH, B. C; LOVE, D. R; PASSOS-BUENO, M. R et al.Nucleic acids research. 1991, Vol 19, Num 15, issn 0305-1048, p. 4310Article

Genetic counseling for childless women at risk for Duchenne muscular dystrophyEGGERS, S; PAVANELLO, R. C. M; PASSOS-BUENO, M. R et al.American journal of medical genetics. 1999, Vol 86, Num 5, pp 447-453, issn 0148-7299Article

Myotonic dystrophy : genetic, clinical, and molecular analysis of patients from 41 Brazilian familiesPASSOS-BUENO, M. R; CERQUEIRA, A; VEINZOF, M et al.Journal of medical genetics. 1995, Vol 32, Num 1, pp 14-18, issn 0022-2593Article

Point mutation in a Becker muscular dystrophy patientROBERTS, R. G; PASSOS-BUENO, M. R; BOBROW, M et al.Human molecular genetics (Print). 1993, Vol 2, Num 1, pp 75-77, issn 0964-6906Article

A model to estimate the expression of the dystrophin gene in muscle from female Becker muscular dystrophy carriersVAINZOF, M; PASSOS-BUENO, M. R; PAVANELLO, R. C. M et al.Journal of medical genetics. 1992, Vol 29, Num 7, pp 476-479, issn 0022-2593Article

Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a and cf23a in Duchenne muscular dystrophyRAPAPORT, D; PASSOS-BUENO, M. R; BRANDAO, L et al.American journal of medical genetics. 1991, Vol 39, Num 4, pp 437-441, issn 0148-7299, 5 p.Article

Racial effect on serum creatine-kinase: implications for estimation of heterozygosity risks for females at-risk for Duchenne dystrophyPASSOS-BUENO, M. R; RABBI-BORTOLINI, E; AZEVEDO, E et al.Clinica chimica acta. 1989, Vol 179, Num 2, pp 163-168, issn 0009-8981Article

HTR1B and HTR2C in autism spectrum disorders in Brazilian familiesORABONA, G. M; GRIESI-OLIVEIRA, K; OTTO, P et al.Brain research. 2009, Vol 1250, pp 14-19, issn 0006-8993, 6 p.Article

Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q : Analysis of muscle beta 1 syntrophinROCCO, P; VAINZOF, M; FROEHNER, S. C et al.American journal of medical genetics. 2000, Vol 92, Num 2, pp 122-127, issn 0148-7299Article

Caveolin-3 in muscular dystrophyMCNALLY, E. M; DE SA MOREIRA, E; KUNKEL, L. M et al.Human molecular genetics (Print). 1998, Vol 7, Num 5, pp 871-877, issn 0964-6906Article

Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate regionPASSOS-BUENO, M. R; RAMAISA BASHIR; STRACHAN, T et al.Genomics (San Diego, Calif.). 1995, Vol 27, Num 1, pp 192-195, issn 0888-7543Article

Further evidence for a fourth gene causing X-linked pure spastic paraplegiaSTARLING, A; ROCCO, P; CAMBI, F et al.American journal of medical genetics. 2002, Vol 111, Num 2, pp 152-156, issn 0148-7299Article

Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1SERTIE, A. L; SOUSA, A. V; STEMAN, S et al.American journal of human genetics. 1999, Vol 65, Num 2, pp 433-440, issn 0002-9297Article

Sweat electrolyte and cystic fibrosis mutation analysis allows early diagnosis in Brazilian children with clinical signs compatible with cystic fibrosisRABBI-BORTOLINI, E; BERNARDINO, A. L. F; LOPES, A. L et al.American journal of medical genetics. 1998, Vol 76, Num 4, pp 288-290, issn 0148-7299Article