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Information extracted by AB3C from Lattes system at CNPq for: Maria Rita Passos Bueno |
| Address |
| Published articles |
| 1. | BUENO, M. R. P.; M, Z.; MR, P.. Recentes Progressos No Estudo da Distrofia Muscular Progressiva Tipo Duchenne. CIENCIA E CULTURA, v. 35, n. 6, p. 562-566, 1983. |
| 2. | M, Z.; BUENO, M. R. P.; MR, P.. Letter To The Editor: Serum Pyruvate-Kinase(Pk)Activity During Pregnancy In Potential Carriers For Duchenne Mus. Dystr.. AMER. J. MED. GENET., v. 15, p. 145-151, 1983. |
| 3. | ZATZ, M. P. M.; BUENO, M. R. P.. Creatine-Kinase(Ck) And Pyruvate - Kinase (Pk) Activities In Cord Blood Of Normal Neonates. AMER. J. MED. GENET., v. 16, n. 3, p. 367-372, 1983. |
| 4. | MR, P.; BUENO, M. R. P.; CH, G. et al. Creatine-Kinase And Pyruvate-Kinase Activities In Normal Chidren:. AMER. J. MED. GENET., v. 22, n. 2, p. 255-262, 1985. |
| 5. | SILVA, M.; BUENO, M. R. P.; MR, P. et al. Niveis de Fosfatase Alcalina Placentaria No Soro de Gestantes: Estudo de Salvador, Bahia. REV. PAUL. MED., v. 103, n. 6, p. 280-283, 1985. |
| 6. | M, Z.; BUENO, M. R. P.; D, R. et al. Becker-Type Muscular Dystrophy In A Mother Of Three Boys Affected By Duchenne Muscular Dystrophy... REV. BRAS. GENETICA, v. 10, n. 2, p. 375-384, 1987. |
| 7. | M, Z.; BUENO, M. R. P.; PASSOS- et al. Serum Creative-Kinase And Pyruvate-Kinase Levels In Females Of Different Racial Background At Risk For Dmd. REV. BRAS. GENET., v. 11, p. 761-768, 1988. |
| 8. | M, E. A. E. Z.; BUENO, M. R. P.. Racial Effect On Serum Creative-Kinase:Implications For Estimation Of Heterozygosity Risks For Females At. For Dmd.. CLIN CHIM ACTA, v. 179, p. 153-168, 1989. |
| 9. | MR, P.; BUENO, M. R. P.; PA, O. et al. Estimates Of Conditional Heterozygosity Risks For Young Females In Duchenne Muscular Dystrophy. HUMAN HEREDITY, v. 39, p. 202-211, 1989. |
| 10. | M, Z.; BUENO, M. R. P.; MR, P. et al. Letter To The Editor : Hypothesis : The Existence Of Embryonic And Adu Lts Isoforms Of Mrna Dystrophir. AM J MED GENET, v. 32, p. 438-441, 1989. |
| 11. | BUENO, M. R. P.; ZATZ, M.; D, R.. Estimate of the proportion of Duchenne muscular dystrophy with autossomal inheritance. American Journal of Medical Genetics, EUA, v. 32, p. 407-410, 1989. |
| 12. | BUENO, M. R. P.; D, R.; JML, R. et al. Letter : Reply to Coakley et al. American Journal of Medical Genetics, EUA, v. 32, n. 4, p. 553-554, 1989. |
| 13. | BUENO, M. R. P.; D, R.; LOVE, D. et al. Screening of deletions in the dystrophin gene with the cDNA probes Cf23a, Cf56a, and Cf115. American Journal of Medical Genetics, EUA, v. 27, p. 145-150, 1990. |
| 14. | BUENO, M. R. P.; LIMA, M. A. B. O.; PERERIA, L. V.. Estimate of germinal mosaicism in Duchenne muscular. American Journal of Medical Genetics, EUA, v. 27, p. 727-728, 1990. |
| 15. | BUENO, M. R. P.; VAINZOF, M.; RCM, P. et al. Dystrophin immunostaining in muscles from patients with different types of muscular dystrophy : A Brasilian study. Journal Neurol Sci, EUA, v. 98, p. 221-233, 1990. |
| 16. | BUENO, M. R. P.; ZATZ, M.; D, R.. Duchenne-like muscular dystrophy in the arabs.. American Journal of Medical Genetics, v. 37, n. 2, p. 289, 1990. |
| 17. | BUENO, M. R. P.; BECKMANN, J. S.; ZATZ, M. et al. A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage. C R Acad Sci Paris, França, p. 141-148, 1991. |
| 18. | BUENO, M. R. P.; OTT, J.; ZATZ, M. et al. Linkage analysis in families with autossomal recessive limb-girdle muscular dystrophy and the 6q probes flanking the dystrophin-related sequence. American Journal of Medical Genetics, EUA, v. 38, n. 1, p. 140-146, 1991. |
| 19. | BUENO, M. R. P.; ZATZ, M.. Reproductive fitness and frequency of new mutations in Becker muscular dystrophy: implication for genetic risk estimate. Journal of Medical Genetics, EUA, v. 28, p. 286-288, 1991. |
| 20. | BUENO, M. R. P.; BYTH, B.; LOVE, D. et al. Exclusion of the gene responsible for facioscapulohumeral muscular dystrophy (FSH) at 6q23-q27. J Neurol Sci, EUA, v. 102, p. 206-208, 1991. |
| 21. | BUENO, M. R. P.; VAINZOF, M.; RCM, P. et al. Limb-Girdle syndrome : a genetic study of 22 large Brazilian families : comparison with X-linked Duchenne and Becker dystrophies. J. Neurol. Sci, v. 103, p. 65-75, 1991. |
| 22. | BUENO, M. R. P.; E., R.; VAINZOF, M. et al. Estimate of the intrafamilial correlation for serum creatine -kinase (CK) and piruvate (PK) in females at-risk for D. Human Heredity, EUA, v. 41, p. 370-378, 1991. |
| 23. | BUENO, M. R. P.; D, R.; COLLETTO, G. M. D. D. et al. Short stature in Duchenne muscular dystrophy. Growth Regul, p. 11-19, 1991. |
| 24. | BUENO, M. R. P.; D, R.; LOVE, D. et al. Apparent association of mental retardation and specific patterns of deletions screened with probes cf56a e cf23a in Duchenne muscular dystrophy. American Journal of Medical Genetics, v. 39, p. 437-441, 1991. |
| 25. | BUENO, M. R. P.; D, R.; COLLETTO, G. M. D. D. et al. Estimates of genetic and environmental components of serum isocitrate dehydrogenase (ICDH) in normal twins. Acta Genetica e Medica e Gemell/ Twin Research, v. 40, p. 77-82, 1991. |
| 26. | BUENO, M. R. P.; VAINZOF, M.; ZATZ, M. et al. Screening of male patients with autossomal recessive Duchenne dystrophy thhrough distrophin and DNA studies. American Journal of Medical Genetics, EUA, v. 39, p. 38-41, 1991. |
| 27. | BUENO, M. R. P.; VAINZOF, M.; ZATZ, M. et al. Dystrpphin immunofluorescence pattern in manifesting and asymptomatic carriers of Duchenne´s and Becker muscular dystrophy of different ages. Neuromuscular Disorders, EUA, v. 1, n. 3, p. 177-183, 1991. |
| 28. | BUENO, M. R. P.; ZATZ, M.; ZUBRZYCKA-GAARN, et al. Immunofluorescence dystrophin study in Duchenne dystrophy throug the concomitant use of two antibodies directed against the carboxi -terminal and the amino-terminal region of the protein. J. Neur. Sci, v. 101, n. 2, p. 141-147, 1991. |
| 29. | BUENO, M. R. P.; ZATZ, M.; VAINZOF, M. et al. Familial ocurrence of Duchenne dystrophy through paternal lines in four genealogies. American Journal of Medical Genetics, v. 38, n. 1, p. 80-84, 1991. |
| 30. | BUENO, M. R. P.; D, R.; ZATZ, M. et al. Serum creatine -kinase (CK) and pyruvate-kinase (PK) activity as a function of clinical evolution in Duchenne (DMD) and Becker (DMB) muscular dystrophies. Journal Neurological Sci, EUA, v. 120, p. 190-196, 1991. |
| 31. | BUENO, M. R. P.; VAINZOF, M.; ZATZ, M.. Familiar Ocurrence of Duchenne dystrophy trhough patternal lines in four families : reply to Hunter , ten Kate and van Essen. American Journal of Medical Genetics, v. 42, n. 2, p. 215, 1992. |
| 32. | BUENO, M. R. P.; ZATZ, M.; VAINZOF, M. et al. A model to estimate the expression of the dystrophin gene in muscle from Becker female muscular dystrophy carriers. Journal of Medical Genetics, v. 29, p. 476-479, 1992. |
| 33. | BUENO, M. R. P.; E., B.; D, R. et al. Mosaicism for Duchenne muscular dystrophy mutations : New recurrence risk estimates based on the deletion site in the gene. American Journal of Human Genetics, EUA, v. 51, p. 1150-1155, 1992. |
| 34. | BUENO, M. R. P.; D, R.; TAKATA, R. I. et al. A deletion including the brain promoter of the Duchenne muscular dystrophy gene is not associated with mental retardation. Neuromuscular Disorders, v. 2, p. 117-120, 1992. |
| 35. | BUENO, M. R. P.; SCHREIBER, R.; D, R. et al. Screeningof glycerol kinase deficiency in pattients affected by Duchenne muscular dystrophy. Clinica Chimica Acta, v. 209, p. 103-104, 1992. |
| 36. | BUENO, M. R. P.; VAINZOF, M.; RAPAPORT, M. R. et al. Additional dystrophin fragment in Becker muscular dystrophy pattients: correlation with the pattern of DNA deletion. American Journal of Medical Genetics, v. 44, p. 382-384, 1992. |
| 37. | BUENO, M. R. P.; ZATZ, M.; VAINZOF, M. et al. Steroids in Duchenne muscular dystrophy. Neuromuscular Disorders, v. 2, n. 1, p. 59, 1992. |
| 38. | BUENO, M. R. P.; ZATZ, M.; VALLADA, H. et al. Consegregation of schizophrenia at Xp21 or an effect of the distrophin gene in the brain. Journal Medical Genetics, v. 30, p. 131-134, 1993. |
| 39. | BUENO, M. R. P.; TAKATA, R. I.; VAINZOF, M. et al. Is the maintananof the C- terminus domain of distrophin enough to ensure a milder Becker muscular dystrophy phenot ype?. Human Molecular Genetics, v. 2, n. 1, p. 75-77, 1993. |
| 40. | BUENO, M. R. P.; ROBERTS, R. G.; VAINZOF, M. et al. Point Mutation in a Becker Muscular dystrophy patients. Human Molecular Genetics, v. 2, n. 1, p. 75-77, 1993. |
| 41. | BUENO, M. R. P.; BAKKER, E.; MARIE, S. K. et al. Exclusion of the 15q locus as a candidate gene for severe childhood autossomal recessive Duchenne-like muscular dystrophy in Brazilian families. Human Molecular Genetics, v. 2, n. 2, p. 201-202, 1993. |
| 42. | BUENO, M. R. P.; BYTH, B.; BASSET, J. H. D. et al. Severe non-specific X- linked mental retardation (nsxlmr) caused by proximal Xp gene: intragenic heterogeneity or a new form of XLMR?. American Journal of Medical Genetics, v. 46, p. 172-175, 1993. |
| 43. | BUENO, M. R. P.. New and unexpected findings following DNA and dystrophin studies in Brazilian DMD/BMD patients. Advances in Neuromuscular Diseases-Expansion Scientifique Française, França, p. 288-293, 1993. |
| 44. | BUENO, M. R. P.; RICHARD, I.; ZATZ, M. et al. Evidence of genetic heterogeneity for the autossomal recessive adult forms of lim-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families. Journal Medical Genetics, v. 30, n. 5, p. 385-387, 1993. |
| 45. | BUENO, M. R. P.; TAKATA, R. I.; MARIE, S. K. et al. No evidence of genetic heterogeneity in Brazilian fascioscapulohumeral muscular dystrophy families (FSHD) with 4q markers. Human Molecular Genetics, v. 5, p. 557-562, 1993. |
| 46. | BUENO, M. R. P.; MELO, M. S.; VIEIRA, G. et al. Association of schizophrenia and Duchenne muscular dystrophy ( DMD): a brief report. British Journal of Psychiatry, Inglaterra, p. 711-712, 1993. |
| 47. | BUENO, M. R. P.; ZATZ, M.; VAINZOF, M.. A transposon-like element in the dystrophin gene. American Journal of Medical Genetics, v. 406, p. 601, 1993. |
| 48. | BUENO, M. R. P.; VAINZOF, M.; ZATZ, M. et al. Sarcolemmal distribution of abnormal dystrophin in Xp21 carriers. Neuromuscular Disorders, v. 3, p. 135-139, 1993. |
| 49. | BUENO, M. R. P.; EGGERS, S.; ZATZ, M.. Facio-scapulo-humeral (FSH) muscular dystrophy : aspects of genetic counseling , acceptance of preclinical diagnosis and fitness. Journal Medical Genetics, v. 30, p. 589-592, 1993. |
| 50. | BUENO, M. R. P.; VAINZOF, M.; TAKATA, R. I. et al. Intrafamilial variability in dystrophin abundance correlated with difference in the severity on the penotype. Journal Neurol. Sci, v. 119, p. 38, 1993. |
| 51. | BUENO, M. R. P.; OLIVEIRA, J. R. M.; ANDERSON, R. D. et al. Genetic heterogeneity for Duchenne -like muscular dystrophy ( DLMD). Human Molecular Genetics, v. 2, n. 11, p. 1945-1947, 1993. |
| 52. | BUENO, M. R. P.. Different behavior In The Paternally Versus The Maternally Inherited Mutated Allele In Brazilian Machado-Joseph Families.. American Journal of Medical Genetics, v. 77, p. 246-248, 1994. |
| 53. | BUENO, M. R. P.; ZATZ, M.; VAINZOF, M. et al. Deficiency of the 50 Kda dystrophin-associated glycoprotein in Brazilian patients with severe childhood autosomal recessive muscular dystrophy (SCARMD). Journal Neurol. Sci, v. 123, p. 122-128, 1994. |
| 54. | BUENO, M. R. P.; MARIE, S. K.; MONTEIRO, M. et al. Knobloch syndrome in a large Brazilian consanguineous family: confirmation of autosomal recessive inheritance. American Journal of Medical Genetics, v. 52, p. 170-173, 1994. |
| 55. | BUENO, M. R. P.; ZATZ, M.; VAINZOF, M. et al. Half the dystrophin gene is apparently enough for a mild clinical course : confirmation of its potential use for gene. Human Molecular Genetics, v. 3, p. 919-922, 1994. |
| 56. | BUENO, M. R. P.; MARIE, S. K.; GOTO, Y. et al. A Brazilian family with 3271 mutation in mitochondrial DNA. Bioch. Med. Metab. Biol., v. 52, n. 2, p. 136-139, 1994. |
| 57. | BUENO, M. R. P.; CERQUEIRA, A.; VAINZOF, M. et al. Myotonic Dystrophy : genetic, clinical and molecular analysis of patients from 41 brazilian families. Journal Medical Genetics, v. 32, p. 14-19, 1995. |
| 58. | BUENO, M. R. P.; ZATZ, M.; VAINZOF, M. et al. High proportion of new mutations and possible antecipation following genetic molecular studies in brazilian fascioscapulohumeral muscular dystrophy ( FSHD) families. American Journal of Human Genetics, v. 56, p. 99-105, 1995. |
| 59. | BUENO, M. R. P.; BASHIR, R.; MOREIRA, E. S. et al. Confirmation of the 2p locus for mild autosomal recessive limb-girdle muscular in three families allows refinement of the candidate region. Genomics, v. 5, p. 192-195, 1995. |
| 60. | BUENO, M. R. P.; EGGERS, S.; LAURIANO, V. et al. Reproductive performance in Becker (BMD) as compared to limb-girdle ( LGMD) muscular dystrophy. American Journal of Medical Genetics, v. 60, n. 1, p. 27-33, 1995. |
| 61. | BUENO, M. R. P.; BECKMANN, J. S.; ZATZ, M. et al. Mutations in the proteolytic enzime calpain 3 cause limb-girdle muscular dystrophy tipe 2A. Cell, v. 81, p. 27-40, 1995. |
| 62. | BUENO, M. R. P.; ZATZ, M.; VAINZOF, M. et al. Absence of correlation between utrophin localization and quantity and clinical severity in Duchenne Dystrophy (DMD). American Journal of Medical Genetics, v. 58, p. 305-309, 1995. |
| 63. | BUENO, M. R. P.; RCM, P.; VAINZOF, M. et al. Is dystrophin always altered in Becker muscular dystrophy patients ?. J. Neurol. Sci, v. 131, p. 99-104, 1995. |
| 64. | BUENO, M. R. P.; MOREIRA, E. S.; VAINZOF, M. et al. A common missense mutation in three unrelated Brazilian families a relatively mild form autosomal recessive limb-girdle muscular dystrophy. Human Molecular Genetics, v. 4, p. 1163-1167, 1995. |
| 65. | BUENO, M. R. P.; CERQUEIRA, A.; ZATZ, M. et al. Analysis of CTG repeat i skeletal muscle of myotonic dystrophy young and aults patients : When does the expansion occur ?. Human Molecular Genetics, v. 4, p. 401-406, 1995. |
| 66. | BUENO, M. R. P.; VAINZOF, M.; MARIE, S. K. et al. Deficiency of merosin in congenital muscular dystrophy associated with cerebral white matter alterations. Neuropediatrics, v. 26, p. 293-297, 1995. |
| 67. | BUENO, M. R. P.; KING, S. C.; ROCHE, A. L. et al. Molecular characterization of further dystrophin microsatellites. Molecular Cell, v. 9, p. 361-370, 1995. |
| 68. | BUENO, M. R. P.; MOREIRA, E. S.; MARIE, S. K. et al. Linkage Analysis In Antosomal Recessvie Limb-Girdel Muscualr Dystrophy (Ar Lgmd) Maps A Sixth Form To 5q33-34 (Lgmd2f) And Indicates That There Is At Least One More Subtype Of Ar Lgmd. Human Molecular Genetics, v. 5, p. 815-820, 1996. |
| 69. | BUENO, M. R. P.; SERTIE, A. L.; QUIMBY, M. et al. A Gene Which Causes Severe Ocular Alterations And Occipital Encaphalocele Is Mapped To 21q22.3.. Human Molecular Genetics, v. 5, p. 843-847, 1996. |
| 70. | BUENO, M. R. P.; H., V.; N., C. et al. Linkage Studies in Bipolar affective disorder with markers on Chromossome 21. J. Affective Disorders, EUA, v. 41, p. 217-221, 1996. |
| 71. | BUENO, M. R. P.; MARIE, S. K.; BASHIR, R. et al. Main clinical features for the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families. Journal Medical Genetics, v. 33, p. 97-102, 1996. |
| 72. | BUENO, M. R. P.; MOREIRA, E. S.; MARIE, S. K. et al. Autosomal recessive lim-girdle muscular dystrophies. Handbook of muscle diseases, New York, p. 257-264, 1996. |
| 73. | BUENO, M. R. P.; VAINZOF, M.; ZATZ, M.. Genetic and linkage analysis in autosomal recessive limb-girdle muscular dystrophy. Ed. Handbook of muscle diseases, New York, p. 257-264, 1996. |
| 74. | BUENO, M. R. P.; ZATZ, M.; VAINZOF, M.. Dystrophin and DNA findings in Duchenne (DMD) and Becker (BMD) carriers. Ed. Handbook of muscle diseases, New York, p. 265-274, 1996. |
| 75. | BUENO, M. R. P.; ZATZ, M.; VAINZOF, M. et al. Diferent origin of mutations for the Machado-Joseph Locus( MJD1). Journal Medical Genetics, v. 33, p. 173-176, 1996. |
| 76. | BUENO, M. R. P.; CERQUEIRA, A.; VAINZOF, M. et al. CTG repeat lenght in muscle from patients with myotonic dystrophy. Journal Medical Genetics, v. 33, p. 173-176, 1996. |
| 77. | BUENO, M. R. P.; REED, U. C.; ZATZ, M. et al. Congenital muscular dystrophy with cerebral with matter hypodensity . Correlation of clinical features and merosin deficiency.. Brain Development, v. 18, p. 53-8, 1996. |
| 78. | BUENO, M. R. P.; BASHIR, R.; KEERS, S. et al. Genetic and Physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p. Genomics, v. 33, p. 46-52, 1996. |
| 79. | BUENO, M. R. P.; BASHIR, R.; KEERS, S. et al. The 5q autosomal recessive limb-girdle muscular dystrophy ( LGMd2B) on chromossome 2p.. Genomics, v. 33, p. 46-52, 1996. |
| 80. | BUENO, M. R. P.; NIGRO, V.; MOREIRA, E. S. et al. The 5q autosomal recessive limb-girdle (LGMD2F) is caused by a mutation in the sarcoglican gene. Nature Genetics, v. 14, p. 195-196, 1996. |
| 81. | BUENO, M. R. P.; E, M.; CG, B. et al. Mild and severe muscular dystrophy caused by a single y-sarcoglican mutation. American Journal of Medical Genetics, v. 59, p. 1040-1047, 1996. |
| 82. | BUENO, M. R. P.; CG, B.; E, M. et al. Genomic screening for b-sarcoglycan mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD2E). Human Molecular Genetics, v. 5, n. 12, p. 1953-1962, 1996. |
| 83. | BUENO, M. R. P.; ZATZ, M.; VAINZOF, M. et al. The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. Human Molecular Genetics, v. 5, n. 12, p. 1963-1970, 1996. |
| 84. | BUENO, M. R. P.; MAHJNEH, I.; MARCONI, G. et al. The phenotype of of chromosome 2p-linked limb-girdle muscular dystrophy. Neuromuscular Disorders, v. 6, p. 483-490, 1996. |
| 85. | BUENO, M. R. P.; BUSHBY, K.; BASHIR, R. et al. The molecular biology of LGMD2B-- towards the identification of the LGMD gene on chromosome 2p13. Neuromuscular Disorders, v. 6, p. 491-492, 1996. |
| 86. | BUENO, M. R. P.; BUSHBY, K.; BASHIR, R. et al. The molecular biology of LGMD2B-- towards the identification of the LGMD gene on chromosome 2p13. Neuromuscular Disorders, v. 6, p. 491-492, 1996. |
| 87. | BUENO, M. R. P.. Passos-Bueno Mr, Richieri-Costa A, Sertié Al, Zatz M. A Pfeiffer Mutation In An Apert Patient: How Wide Is The Spectrum Of Variability Due To Mutations In The Fgfr2 Gene. Am J Med Genet 71:243-245, 1997. |
| 88. | BUENO, M. R. P.; MOREIRA, E. S.; VAINZOF, M. et al. The Seventh Form Of Autosomal Recessive Limb-Girdle Muscular Dystrophy Is Mapeed To 17q11-12.. American Journal of Human Genetics, v. 71, p. 243-245, 1997. |
| 89. | BUENO, M. R. P.; SITNIK, R.; CAMPIOTTO, S. et al. Novel point mutations in the dystrophin gene. Human Mutation, v. 10, p. 217-222, 1997. |
| 90. | BUENO, M. R. P.; OLIVEIRA, J. R. M.; MSHIMOKOMAKI, C. et al. The use of apoliprotein E genotype for preclinical detection of risk's group for Alzheimer disease. Am J Med Genet (Neuropsychiatric Genetics), EUA, v. 74 (2), p. 216-217, 1997. |
| 91. | BUENO, M. R. P.; M, Z.; VAINZOF, M. et al. Segregation distorcion of the CTG repeats at the myotonic dystrophy (DM) locus: new data from Brazilian DM families. J. Med. Genet., EUA, v. 34, p. 790-791, 1997. |
| 92. | BUENO, M. R. P.; M.J., S.; J.G., T. et al. Absence of Calpain 3 in a form of limb-girdle muscular dystrophy (LGMD2A). J. Neurol. Sci., EUA, v. 146, p. 173-178, 1997. |
| 93. | BUENO, M. R. P.; VAINZOF, M.; C.S., C. et al. Deficiency of Alfa-Actinin 3 (ACTN3) in different forms of muscular dystrophy. Neuropediatrics, EUA, v. 28, p. 223-228, 1997. |
| 94. | BUENO, M. R. P.; R., N.; S., R. et al. Familial spongiform encephalopathy associated with a novel prion protein gene mutation. Ann. Neurology, EUA, p. 138-146, 1997. |
| 95. | BUENO, M. R. P.; SERTIE, A. L.; RICHIERICOSTA, A. et al. Description Of A New Mutation And Characterization Of Fgfr1, Fgfr2 Amd Fgfr3 Mutations Among Brazilian Patients With Syndromic Cranioysnostosis. Am J Med Genet 78:237-241. American Journal of Medical Genetics, USA, v. 78, p. 237-241, 1998. |
| 96. | BUENO, M. R. P.; RICHIERICOSTA, A.; SERTIE, A. L. et al. Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. Journal of Medical Genetics, Reino Unido, v. 35, n. -, p. 677-679, 1998. |
| 97. | BUENO, M. R. P.; BRAHE, C.; SERITE, A. L.. A three allele polymorphism at the 3'end of COL18A1 . Human Mutation, online, v. 212, 1998. |
| 98. | BUENO, M. R. P.; MOREIRA, E. S.; VAINZOF, M. et al. A first missense mutation in the delta sarcoglycan gene associated with a severe phenotype and frequency of limb-girle muscular ydstrophy type 2F in Brazilian sarcoglynopathies. Journal of Medical Genetics, Inglaterra, v. 35, p. 951-953, 1998. |
| 99. | BUENO, M. R. P.; BASHIR, R.; MOREIRA, E. S. et al. A gene related to Caenorhabiditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nature Genetics, Inglaterra, v. 20, p. 37-42, 1998. |
| 100. | BUENO, M. R. P.; PEREZ, A. B.; PERERIA, L. V. et al. Identification of 8 new mutations in Brazilian families with marfan syndrome .. Human Mutation, v. 13, p. 84, 1998. |
| 101. | BUENO, M. R. P.; SUMITA, D.; CAMPIOTTO, S. et al. Paternal inheritance or different mutations in maternally related patients occur in 3% of Duchenn familial cases. American Journal of Medical Genetics, USA, v. 78, p. 361-365, 1998. |
| 102. | BUENO, M. R. P.; E., R.; ALFB, B. et al. Sweat Eletrolyte and Cystic fibrosis mutations allows early diagnosis in Brazilian children with clinical signs compatible with cystic fibrosis. Am. J. Med. Genet., EUA, v. 76 (4), p. 288-290, 1998. |
| 103. | BUENO, M. R. P.; P., L.; MARIE, S. K. et al. Different behavior in the paternally versus the maternally inherited mutated allele in Brazilian Machado-Joseph (MJD1) families. Am. J. Med. Genet., EUA, v. 77, p. 246-248, 1998. |
| 104. | BUENO, M. R. P.; ZATZ, M.; MARIE, S. K. et al. The fascioescapulohumeral muscular dystrophy (FSHD1) gene affects more severely and more frequently males than females. Am. J. Med. Genet., EUA, v. 77, p. 155-161, 1998. |
| 105. | BUENO, M. R. P.; OLIVEIRA, J. R. M.; PA, O. et al. Analysis of the 5-HTT polymorphism in the serotonin transporter gene regulatory region in Brazilian patients affected by bipolar disorder and schizophrenia. Am. J. Med. Genet., EUA, v. 81, p. 225-227, 1998. |
| 106. | BUENO, M. R. P.; OLIVEIRA, J. R. M.; RM, G. et al. The short variant of the polymorphism within the promoter region of the serotonin transporter gene is a risk factor for late onset Alzheimer disease. Molecular Psychiatry, EUA, v. 3, p. 438-441, 1998. |
| 107. | BUENO, M. R. P.; E, M.; MOREIRA, E. S. et al. Caveolin 3 in muscular dystrophy. Hum. Molec. Genet., EUA, v. 7, p. 871-878, 1998. |
| 108. | BUENO, M. R. P.; ZATZ, M.; VAINZOF, M. et al. Further evidences for the organisation of the four sarcoglycans proteins within the dystrophinglycoprotein complex. European Journal Of Human GENETICS, EUROPA, v. 7, n. 2, p. 251-254, 1999. |
| 109. | BUENO, M. R. P.; ZATZ, M.; RCM, P. et al. Genetic counseling for childrens women at risck Duchenne Muscular Dystrophy. American Journal of Medical Genetics, Estados Unidos, v. 86, p. 447-453, 1999. |
| 110. | BUENO, M. R. P.; ZATZ, M.; VAINZOF, M. et al. Sarcoglycanopathies are responsible for 68 OFsevere autossomal recessive limb-girdle muscular systrophy in the Brazilian population. Journal Neuro. Science, ESTADOS UNIDOS, v. 164, p. 44-49, 1999. |
| 111. | BUENO, M. R. P.; ZATZ, M.; PA, O. et al. The interation between the short variant of the polymorphism within the promoter region of the serotonin transporter gene (5-HTTPLR) and the apoliprotein E e4 allele does not increase the risk for late onset Alzheimer's disease. MOLECULAR PSYCHIATRY, Estados Unidos, v. 4, p. 19-20, 1999. |
| 112. | BUENO, M. R. P.; ZATZ, M.; MOREIRA, E. S. et al. The seven autossomal recessive limb-girdle muscular dystrophies (LGMD):from LGMD2A to LGMD2G. American Journal of Medical Genetics, Estados Unidos, v. 82, p. 392-398, 1999. |
| 113. | BUENO, M. R. P.; RCM, P.; ANDRE, M. et al. Role of the C677T polymorphism at the MTHFR gene on risk to nonsyndromic cleft lip with/without cleft palate : result from a case -control study in Brazil1999. American Journal of Medical Genetics, v. 87, n. 2, p. 197-199, 1999. |
| 114. | BUENO, M. R. P.; A, S.; V, S. A. et al. Linkage analisys in a large Brazilian family with van der Woude Syndrome Suggest the existence of a susceptibility locus for cleft palate at 17p11.2-11.1. American Journal of Human Genetics, v. 65, p. 433-440, 1999. |
| 115. | BUENO, M. R. P.; M, O. J. R.; CM, S. et al. The association of the short variant of the 5-httplr polymorphism and the apoE e4 allele does not increase the risk for late onset Alzheimer´s disease. Molecular Psychiatry, v. 4, p. 19-20, 1999. |
| 116. | BUENO, M. R. P.; W R, W.; W, J. E. et al. Clinical spectrum of fibroblast growth factor receptor mutations. Human Mutation, v. 14, p. 115-125, 1999. |
| 117. | BUENO, M. R. P.; CA, K.; K, M. S. et al. Clinical and molecular analysis of spinal muscular atrophy in Brazilian patients. Genetics and Molecular Biology, v. 22, n. 4, p. 487-492, 1999. |
| 118. | BUENO, M. R. P.; OLIVEIRA, J. R. M.; Carvalho DR et al. Analysis of the seretonin transporter polymorphism (5-HTTLPR) in Brazilian patients affected by dysthymia,major depression and bipolar disorder. Molecular Psychiatry, p. 348-349, 1999. |
| 119. | BUENO, M. R. P.; MOREIRA, E. S.; ZATZ, M. et al. Seven autosomal recessive limb-girdle muscular dystrophies in the brazilian population : From LGMD2A TO LGMD2G. American Journal of Medical Genetics, v. 82, p. 392-398, 1999. |
| 120. | BUENO, M. R. P.; ALFB, B.; A.S., F. et al. Molecular analisys in Brazilian cystic fibrosis patients reveals five novel mutations. Genetic Testing, v. 4, p. 69-74, 2000. |
| 121. | BUENO, M. R. P.; OLIVEIRA, J. R. M.; Carvalho DR et al. Analysis of the seretonin transporter poymorphism (5-HTTLPR) in Brazilian patients affected by dysthymia , major depression and bipolar disorder. Molecular Psychiatry, v. 5, n. 4, p. 348-349, 2000. |
| 122. | BUENO, M. R. P.; MOREIRA, E. S.; FAULKNER, G. G. et al. Limb- girdle Muscular Dystrophy type 2g (LGMD 2G) is caused by Mutations in the gene encoding the sarcomeric protein Telethonin. Nature Genetics, v. 24, p. 163-166, 2000. |
| 123. | BUENO, M. R. P.; REED, U. C.; MARIE, S. K. et al. Heterogenety of classic congenital muscular dystrophy with involvement of the central nervous system: report of five atypical cases. J. Child Neurol, v. 15, n. 3, p. 172-178, 2000. |
| 124. | BUENO, M. R. P.; VAINZOF, M.; MOREIRA, E. S. et al. Brazilian Family with pure autosomal dominant spastic paraplegia maps to chromosome 8q : analysis of muscle beta 1 syntrophin. Muscle & Nerve, v. 23, n. 6, p. 984-988, 2000. |
| 125. | BUENO, M. R. P.; M, Z.; SIMPSOM, A. J. G. et al. The genome sequence of the plant pathogen Xylella fastidiosa. Nature, v. 5, p. 563-566, 2000. |
| 126. | BUENO, M. R. P.; NISHIMURA, A.; OLIVEIRA, J. R. M. et al. Analysis of the disease risk loci DXS1047 polymorphism in Alzheimer Brazilian patients. Molecular Psychiatry, v. 5, p. 563-566, 2000. |
| 127. | BUENO, M. R. P.; ZATZ, M.; VAINZOF, M.. Limb-girdle muscular dystrophy : one gene with different phenotypes; one phenotype with different genes. Current opinion in Neurology, v. 13, p. 511-517, 2000. |
| 128. | BUENO, M. R. P.; SERTIE, A. L.; SOSSI, V. et al. Collagen XVIII , containing an endogenous inhibitor of angiogenesis and tumor growth , plays a critical role in the maintenence of retinal structure and in neural tube closure ( Knobloch Syndrome). Human Molecular Genetics, v. 9, p. 2051-2058, 2000. |
| 129. | BUENO, M. R. P.; IUGHETTI, P.; ALONSO, L. G. et al. Mapping of the autossomal recessive (AR) craniometaphyseal dysplasia locus to chromosome region 6q21-22 and confirmation of genetic heterogeneity for mild AR spondylocostal dysplasia. American Journal of Medical Genetics, USA, v. 95, n. 0, p. 482-491, 2000. |
| 130. | BUENO, M. R. P.; SPLENDORE, A.; SILVA, E. O. et al. High mutation detection rate in TCOF1 among Treacher Collins Syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Human Mutation, USA, v. 16, n. 0, p. 315-322, 2000. |
| 131. | BUENO, M. R. P.; M, V.; MOREIRA, E. S. et al. Partial sarcoglycan deficiency with retention of the dystrophin glycoprotein complex in a LGMD2D family. Muscle & Nerve, v. 23, p. 984-988, 2000. |
| 132. | BUENO, M. R. P.; SPLENDORE, A.. Sindrome de Treacher Collins: aspectos clínicos,geneticos e moleculares. Revista de Medicina, São Paulo, v. 80, p. 52-56, 2001. |
| 133. | BUENO, M. R. P.; FS, J.; LML, A.. Aspéctos Moleculares das Craniossinostoses: Implicações no diagnóstico e aconselhamento genético. Revista de Medicina, São Paulo, v. 80, p. 07-13, 2001. |
| 134. | BUENO, M. R. P.; R., N.; LS, T. et al. Prion Disease Resembling Fronto-temporal Dementia and Parkinson linked to Chromosome 17. Arq. Neurop., Inglaterra, v. 59, p. 161-164, 2001. |
| 135. | BUENO, M. R. P.; VAINZOF, M.; ZATZ, M.. Serum Creatine-Kinase (CK) in progressive muscular dystrophies in Chapter 4 h. Metods in Molecular Medicine Series, New Jersey, v. 43, p. 31-49, 2001. |
| 136. | BUENO, M. R. P.; VAINZOF, M.; L.V.B., A. et al. Dysferlin protein analysis in limb-girdle muscular dystrophies. Journal Molec. Neurosc. (No prelo), 2001. |
| 137. | BUENO, M. R. P.; ZATZ, M.; VAINZOF, M.. Immunological methods for the analysis of protein expression in neuromuscular diseases. In Press, 2001. |
| 138. | BUENO, M. R. P.; ZORICK, T.; MUSTACCHI, Z. et al. High serum endostatin levels in patients with Down´s syndrome: implicationfor improved treatment and prevention of solid tumors. European Journal Of Human Genetics, Holanda, v. 9, n. 0, p. 811-814, 2001. |
| 139. | BUENO, M. R. P.; IUGHETTI, P.; SUZUKI, O. T. et al. A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the developmento of prostatic adenocarcinoma. Cancer Research, USA, v. 61, n. 1, p. 7375-7378, 2001. |
| 140. | BUENO, M. R. P.; TONINI, M. M. O.; CERQUEIRA, A. et al. Fascioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family : Is there more in muscular dystrophy than meets the eye?. Neuromuscular Disorders, London, v. 12, p. 554-557, 2002. |
| 141. | BUENO, M. R. P.; STARLING, A.; ZATZ, M.. Further evidence for a fourth gene causing X-linked pure spastic paraplegia. American Journal of Medical Genetics, v. 111, p. 152-156, 2002. |
| 142. | BUENO, M. R. P.; SPLENDORE, A.. Screening of TCOF1 in patients from different populations: confirmation of mutational hot spotand identification of a novel missense mutation that sugests a important functional domain in the protein treacle. Journal of Medical Genetics, v. 39, p. 493-495, 2002. |
| 143. | BUENO, M. R. P.; SPLENDORE, A.; MALDERGEM, L. V. et al. TCOF1 mutations excluded from a role in other first and second branchial arch-related disorders. American Journal of Medical Genetics, USA, v. 111, n. 3, p. 324-327, 2002. |
| 144. | BUENO, M. R. P.; SUZUKI, O. T.; SERTIE, A. L. et al. Molecular Analysis of collagen XVIII reveals novel mutations, presence of a third isoform and possible genetic heterogeneity in Knobloch syndrome. American Journal of Human Genetics, USA, v. 77, n. 1, p. 1320-1329, 2002. |
| 145. | BUENO, M. R. P.; GASPAR, D. A.; MATIOLI, S. R. et al. Evidence that BCL3 plays a role in the etiology of nonsyndromic oral clefts in Brazilian families. Genetic Epidemiology, USA, v. 23, n. 4, p. 364-374, 2002. |
| 146. | BUENO, M. R. P.; STARLING, A.; ROCCO, P. et al. Autosomal dominant (AD) pure spastic paraplegia (HSP) linked to locus spg4 affects almost exclusively males in a large pedigree. Journal of Medical Genetics, Inglaterra, v. 39, n. 1, p. E77-E77, 2002. |
| 147. | BUENO, M. R. P.; VAINZOF, M.; MOREIRA, E. S. et al. Telethonin protein expression in neuromuscular disorders. Biochimica and Biophysica Acta, USA, v. 1588, n. 1, p. 33-40, 2002. |
| 148. | BUENO, M. R. P.; MOREIRA, E. S.; SUZUKI, O. T. et al. Genotype:phenotype correlation and new mutation in Brazilian sarcoglynopathy families. American Journal of Medical Genetics, 2002. |
| 149. | BUENO, M. R. P.; LML, A.; MAIA, L. G. S. et al. Craniosynostosis associated with ocular and distal limb defects isery likely caused by mutations in a gene different from FGFR,TWIST, and MSX2. American Journal of Medical Genetics, v. 113, p. 200-206, 2002. |
| 150. | BUENO, M. R. P.; ZATZ, M.; VAINZOF, M.. Immunological methods for the analysis of protein expression in neuromuscular diseases. Methods in molecular Biology, v. 217, p. 355-378, 2003. |
| 151. | BUENO, M. R. P.; SUZUKI, O. T.; S., R. et al. Evidence of Neuronal Migration Disorders in Knobloch Syndrome: Clinical and Molecular Analysisof Two Novel Families. American Journal of Medical Genetics, v. 119A, p. 15-19, 2003. |
| 152. | BUENO, M. R. P.; VARGAS, R. A. P.; H B, M. et al. Beare Stevenson Syndrome: Two south American Patients with FGFR Analysis. American Journal of Medical Genetics, v. 121a, p. 41-46, 2003. |
| 153. | BUENO, M. R. P.; MOREIRA, E. S.; PAVANELLO, R. C. M. et al. Genotype-phenotype correlations in 35 brazilian families with sarcoglycanopathies including the description of three novel mutations. Journal of Medical Genetics, v. 40, p. 12e, 2003. |
| 154. | BUENO, M. R. P.; MOREIRA, E. S.; ORABONA, G. M. et al. Does the P172H mutation at the TM4SF2 gene cause X-linked mental retardation?. American Journal of Medical Genetics, v. 124A, n. 4, p. 413-415, 2003. |
| 155. | BUENO, M. R. P.; GASPAR, D. A.; KAMIYA, T. et al. Transforming Growth Factor- alpha and nonsyndromic cleft lip with or without palate in brazilian patients: Results of a large case-control study. Cleft Palate-Craniofacial Journal, v. 41, n. 4, p. 387-391, 2004. |
| 156. | BUENO, M. R. P.; GASPAR, D. A.; MATIOLLI, S. R. et al. Maternal MTHFR interacts with the offspring's BCL3 genotypes, but not with TGFA, in incresing risk to nonsyndromic cleft lip with or without cleft palate. European Journal of Human Genetics, v. 12, p. 521-526, 2004. |
| 157. | BUENO, M. R. P.; SERTIE, A. L.; ZATZ, M. et al. Fine Mapping and Clinical Reevaluation of a Brazilian Pedigree with a Severe Form of X-linked mental Retardation Associated with other Neurological Dysfunction. American Journal of Medical Genetics, Wiley-Liss USA, n. 127A, p. 321-323, 2004. |
| 158. | BUENO, M. R. P.; ABE, K. T.; NISHIMURA, A. et al. A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21.. Journal Medical Genetic, Estados Unidos, v. 41, p. 224-229, 2004. |
| Published book chapters |
| 1. | BUENO, M. R. P.; M, Z.; VAINZOF, M.. New and unexpected findings following DNA and dystrophin studies in brazilian DMD/DMB patients. Advances in neuromuscular diseases:expansion scientifique française. , 1993, v. , p. 288-293. |
| 2. | BUENO, M. R. P.; M, Z.. AS TECNICAS DE PCR E SUAS APLICAÇÕES EM DOENÇAS GENÉTICAS HUMANAS. HIBRIDAÇÃO DE ÁCIDOS NUCLEICOS. SÃO PAULO, 1995, v. , p. -. |
| 3. | BUENO, M. R. P.; M, Z.. MIOPATIAS HEREDIATÁRIAS: AVANÇO DOS ÚLTIMOS DOIS ANOS. CONDUTAS EM NEUROLOGIA. , 1995, v. , p. -. |
| 4. | BUENO, M. R. P.; M, Z.. TESTES GENÉTICOS EM DOENÇAS DO SISTEMA NERVOSO CENTRAL. CONDUTAS EM NEURLOGIA. , 1995, v. , p. -. |
| 5. | BUENO, M. R. P.; M, Z.. TESTES MOLECULARES EM MEDICINA: QUAIS E QUANTOS?. CONDUTAS EM NEUROLOGIA. , 1995, v. , p. -. |
| 6. | BUENO, M. R. P.; MARIE, S.; M, Z. et al. Autosomal recessive limb-girdle muscular dystrophies. In: Marcel Dekker. (Org.). IN LAne R Ed. Handbook of muscle diseases. , 1996, v. , p. 245-255. |
| 7. | BUENO, M. R. P.; VAINZOF, M.; ZATZ, M.. Genetic and linkage analysis in autosomal recessive limb-girdle muscular dystrophy. In: Marcel Dekker. (Org.). In.Lane R.Ed. Handbook of muscle diseases. , 1996, v. , p. 257-264. |
| 8. | BUENO, M. R. P.; ZATZ, M.; VAINZOF, M.. Dystrophin and DNA findings in Duchenne (DMD) and Becker (DMB) carriers. In.Lane R.Ed. Handbook of muscle diseases. , 1996, v. , p. 265-274. |
| 9. | BUENO, M. R. P.; SPLENDORE, A.; RCM, P.. Síndrome de treacher Collins. Doenças Genéticas em Pediatria. , 2000, v. , p. -. |
| 10. | BUENO, M. R. P.. Immunological Methods or the analysis of protein expression in neuromuscular diseases. Methods in molecular biology. Totowa, 2002, v. 217, p. 355-378. |