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A Gene Which Causes Severe Ocular Alterations and Occipital Encephalocele (Knobloch Syndrome) is Mapped to 21q22.3Sertié, A. L. ; Quimby, M. ; Moreira, E. S. ; Murray, J. ; Zatz, M. ; Antonarakis, S. E. ; Passos-Bueno, M. R.Human molecular genetics, 1996-06, Vol.5 (6), p.843-847 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Caveolin-3 in Muscular DystrophyMcNally, Elizabeth M. ; de Sá Moreira, Eloisa ; Duggan, David J. ; Bönnemann, Carsten G. ; Lisanti, Michael P. ; Lidov, Hart G.W. ; Vainzof, Mariz ; Rita Passos-Bueno, M. ; Hoffman, Eric P. ; Zatz, Mayana ; Kunkel, Louis M.Human molecular genetics, 1998-05, Vol.7 (5), p.871-877 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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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)SERTIE, A. L ; SOSSI, V ; CAMARGO, A. A ; ZATZ, M ; BRAHE, C ; PASSOS-BUENO, M. RHuman molecular genetics, 2000-08, Vol.9 (13), p.2051-2058 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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Genomic Screening for β-Sarcoglycan Gene Mutations: Missense Mutations May Cause Severe Limb-girdle Muscular Dystrophy Type 2E (LGMD 2E)Bönnemann, Carsten G. ; Passos-Bueno, M. Rita ; McNally, Elizabeth M. ; Vainzof, Mariz ; Moreira, Eloísa de Sá ; Marie, Suely K. ; Pavanello, Rita C. M. ; Noguchi, Satoru ; Ozawa, Eijiro ; Zatz, Mayana ; Kunkel, Louis M.Human molecular genetics, 1996-12, Vol.5 (12), p.1953-1961 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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The Sarcoglycan Complex in the Six Autosomal Recessive Limb-Girdle Muscular DystrophiesVainzof, M. ; Passos-Bueno, M. R. ; Canovas, M. ; Moreira, E. S. ; Pavanello, R. C. M. ; Marie, S. K. ; Anderson, L. V. B. ; Bonnemann, C. G. ; McNally, E. M. ; Nigro, V. ; Kunkel, L. M. ; Zatz, M.Human molecular genetics, 1996-12, Vol.5 (12), p.1963-1969 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |