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1 |
Material Type: Artigo
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Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndromeKaufmann, Walter E. ; Abrams, Michael T. ; Chen, Wilma ; Reiss, Allan L.American journal of medical genetics, 1999-04, Vol.83 (4), p.286-295New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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2 |
Material Type: Artigo
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Genotype, molecular phenotype, and cognitive phenotype: Correlations in fragile X syndromeKaufmann, Walter E. ; Abrams, Michael T. ; Chen, Wilma ; Reiss, Allan L.American journal of medical genetics, 1999-04, Vol.83 (4), p.286-295New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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3 |
Material Type: Artigo
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FMRP expression as a potential prognostic indicator in fragile X syndromeTassone, Flora ; Hagerman, Randi J. ; Iklé, David N. ; Dyer, Pamela N. ; Lampe, Megan ; Willemsen, Rob ; Oostra, Ben A. ; Taylor, Annette K.American journal of medical genetics, 1999-05, Vol.84 (3), p.250-261New York: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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4 |
Material Type: Artigo
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FMR1 gene and fragile X syndromeBardoni, Barbara ; Mandel, Jean-Louis ; Fisch, Gene S.American journal of medical genetics, 2000, Vol.97 (2), p.153-163New York: John Wiley & Sons, IncTexto completo disponível |
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5 |
Material Type: Artigo
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Clinical involvement and protein expression in individuals with the FMR1 premutationTassone, F. ; Hagerman, R.J. ; Taylor, A.K. ; Mills, J.B. ; Harris, S.W. ; Gane, L.W. ; Hagerman, P.J.American journal of medical genetics, 2000-03, Vol.91 (2), p.144-152 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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6 |
Material Type: Artigo
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Increase of FMRP expression, raised levels ofFMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions: a clue to the sex bias in the transmission of full mutations?Salat, Ulrike ; Bardoni, Barbara ; Wöhrle, Doris ; Steinbach, PeterJournal of medical genetics, 2000-11, Vol.37 (11), p.842 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |
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7 |
Material Type: Artigo
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Increase of FMRP expression, raised levels of FMR1 mRNA, and clonal selection in proliferating cells with unmethylated fragile X repeat expansions : a clue to the sex bias in the transmission of full mutations?SALAT, Ulrike ; BARDONI, Barbara ; WÖHRLE, Doris ; STEINBACH, PeterJournal of medical genetics, 2000-11, Vol.37 (11), p.842-850 [Periódico revisado por pares]London: BMJTexto completo disponível |
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8 |
Material Type: Artigo
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Screening for the fragile X syndrome among mentally retarded males by hair root analysisTunçbilek, Ergül ; Alikasifoğlu, Mehmet ; Aktas, Dilek ; Duman, Funda ; Yanik, Hulya ; Anar, Burçu ; Oostra, Ben ; Willemsen, RobAmerican journal of medical genetics, 2000-11, Vol.95 (2), p.105-107New York: John Wiley & Sons, IncTexto completo disponível |
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9 |
Material Type: Artigo
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The fragile X mental retardation protein binds specifically to its mRNA via a purine quartet motifSchaeffer, Céline ; Bardoni, Barbara ; Mandel, Jean-Louis ; Ehresmann, Bernard ; Ehresmann, Chantal ; Moine, HervéThe EMBO journal, 2001-09, Vol.20 (17), p.4803-4813 [Periódico revisado por pares]Chichester, UK: John Wiley & Sons, LtdTexto completo disponível |
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10 |
Material Type: Artigo
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Genetic effects on human cognition: lessons from the study of mental retardation syndromesNokelainen, P ; Flint, JJournal of Neurology, Neurosurgery and Psychiatry, 2002-03, Vol.72 (3), p.287-296 [Periódico revisado por pares]London: BMJ Publishing Group LtdTexto completo disponível |