Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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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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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.105-107 [Periódico revisado por pares]New York: John Wiley & Sons, IncTexto completo disponível |
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3 |
Material Type: Artigo
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Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomesDarnell, Jennifer C ; Fraser, Claire E ; Mostovetsky, Olga ; Stefani, Giovanni ; Jones, Thomas A ; Eddy, Sean R ; Darnell, Robert BGenes & development, 2005-04, Vol.19 (8), p.903-918 [Periódico revisado por pares]United States: Cold Spring Harbor Laboratory PressTexto completo disponível |
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Material Type: Artigo
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Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high‐functioning fragile X maleHan, Xiao‐Dong ; Powell, Berkley R. ; Phalin, Judith L. ; Chehab, Farid F.American journal of medical genetics. Part A, 2006-07, Vol.140A (13), p.1463-1471 [Periódico revisado por pares]Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |
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Material Type: Artigo
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Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutationBrouwer, J.R. ; Mientjes, E.J. ; Bakker, C.E. ; Nieuwenhuizen, I.M. ; Severijnen, L.A. ; Van der Linde, H.C. ; Nelson, D.L. ; Oostra, B.A. ; Willemsen, R.Experimental cell research, 2007-01, Vol.313 (2), p.244-253 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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Material Type: Artigo
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Examination of FMR1 transcript and protein levels among 74 premutation carriersPeprah, Emmanuel ; He, Weiya ; Allen, Emily ; Oliver, Tiffany ; Boyne, Alex ; Sherman, Stephanie LJournal of human genetics, 2010-01, Vol.55 (1), p.66-68 [Periódico revisado por pares]EnglandTexto completo disponível |
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7 |
Material Type: Artigo
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The CGG Repeat and the FMR1 GeneHukema, Renate K. ; Oostra, Ben A.Methods in molecular biology (Clifton, N.J.), 2013, Vol.1010, p.155-176Totowa, NJ: Humana PressSem texto completo |
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Material Type: Artigo
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Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in PakistanFatima, Tasneem ; Zaidi, Syed Aley Hasan ; Sarfraz, Noorjehan ; Perween, Siddiqa ; Khurshid, Faraz ; Imtiaz, FauziaAmerican journal of medical genetics. Part A, 2014-05, Vol.164A (5), p.1151-1161 [Periódico revisado por pares]United States: Blackwell Publishing LtdTexto completo disponível |
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9 |
Material Type: Artigo
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Size and methylation mosaicism in males with Fragile X syndromeJiraanont, Poonnada ; Kumar, Madhur ; Tang, Hiu-Tung ; Espinal, Glenda ; Hagerman, Paul J ; Hagerman, Randi J ; Chutabhakdikul, Nuanchan ; Tassone, FloraExpert Review of Molecular Diagnostics, 2017-11, Vol.17 (11), p.1023-1032eScholarship, University of CaliforniaSem texto completo |