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1
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?
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?
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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, Peter

Journal of medical genetics, 2000-11, Vol.37 (11), p.842-850 [Periódico revisado por pares]

London: BMJ

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2
Screening for the fragile X syndrome among mentally retarded males by hair root analysis
Screening for the fragile X syndrome among mentally retarded males by hair root analysis
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Screening for the fragile X syndrome among mentally retarded males by hair root analysis

Tunçbilek, Ergül ; Alikasifoğlu, Mehmet ; Aktas, Dilek ; Duman, Funda ; Yanik, Hulya ; Anar, Burçu ; Oostra, Ben ; Willemsen, Rob

American journal of medical genetics, 2000-11, Vol.95 (2), p.105-107 [Periódico revisado por pares]

New York: John Wiley & Sons, Inc

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3
Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes
Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes
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Kissing complex RNAs mediate interaction between the Fragile-X mental retardation protein KH2 domain and brain polyribosomes

Darnell, Jennifer C ; Fraser, Claire E ; Mostovetsky, Olga ; Stefani, Giovanni ; Jones, Thomas A ; Eddy, Sean R ; Darnell, Robert B

Genes & development, 2005-04, Vol.19 (8), p.903-918 [Periódico revisado por pares]

United States: Cold Spring Harbor Laboratory Press

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4
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 male
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 male
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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 male

Han, 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 Company

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5
Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation
Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation
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Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation

Brouwer, 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 Inc

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6
Mutational Analysis Establishes a Critical Role for the N Terminus of Fragile X Mental Retardation Protein FMRP
Mutational Analysis Establishes a Critical Role for the N Terminus of Fragile X Mental Retardation Protein FMRP
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Mutational Analysis Establishes a Critical Role for the N Terminus of Fragile X Mental Retardation Protein FMRP

Reeve, Simon P ; Lin, Xinda ; Sahin, Bahar H ; Jiang, Fangfang ; Yao, Aiyu ; Liu, Zhihua ; Zhi, Hui ; Broadie, Kendal ; Li, Wei ; Giangrande, Angela ; Hassan, Bassem A ; Zhang, Yong Q

The Journal of neuroscience, 2008-03, Vol.28 (12), p.3221-3226 [Periódico revisado por pares]

United States: Soc Neuroscience

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7
Examination of FMR1 transcript and protein levels among 74 premutation carriers
Examination of FMR1 transcript and protein levels among 74 premutation carriers
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Examination of FMR1 transcript and protein levels among 74 premutation carriers

Peprah, Emmanuel ; He, Weiya ; Allen, Emily ; Oliver, Tiffany ; Boyne, Alex ; Sherman, Stephanie L

Journal of human genetics, 2010-01, Vol.55 (1), p.66-68 [Periódico revisado por pares]

England

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8
Epigenetic Modifications of the FMR1 Gene
Epigenetic Modifications of the FMR1 Gene
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Epigenetic Modifications of the FMR1 Gene

Tabolacci, Elisabetta ; Neri, Giovanni

Methods in molecular biology (Clifton, N.J.), 2013, Vol.1010, p.141-153

Totowa, NJ: Humana Press

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9
The CGG Repeat and the FMR1 Gene
The CGG Repeat and the FMR1 Gene
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The CGG Repeat and the FMR1 Gene

Hukema, Renate K. ; Oostra, Ben A.

Methods in molecular biology (Clifton, N.J.), 2013, Vol.1010, p.155-176

Totowa, NJ: Humana Press

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10
Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan
Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan
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Frequency of FMR1 gene mutation and CGG repeat polymorphism in intellectually disabled children in Pakistan

Fatima, Tasneem ; Zaidi, Syed Aley Hasan ; Sarfraz, Noorjehan ; Perween, Siddiqa ; Khurshid, Faraz ; Imtiaz, Fauzia

American journal of medical genetics. Part A, 2014-05, Vol.164A (5), p.1151-1161 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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