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Refinado por: assunto: Genetics & Heredity remover assunto: FMRP - Fac. Medicina de Ribeirão Preto remover
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1
Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats
Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats
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Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats

Loesch, Danuta Z ; Bui, Quang M ; Huggins, Richard M ; Mitchell, Robert J ; Hagerman, Randi J ; Tassone, Flora

Journal of medical genetics, 2007-03, Vol.44 (3), p.200-204 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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2
Identification of Fragile X Syndrome Specific Molecular Markers in Human Fibroblasts: A Useful Model to Test the Efficacy of Therapeutic Drugs
Identification of Fragile X Syndrome Specific Molecular Markers in Human Fibroblasts: A Useful Model to Test the Efficacy of Therapeutic Drugs
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Identification of Fragile X Syndrome Specific Molecular Markers in Human Fibroblasts: A Useful Model to Test the Efficacy of Therapeutic Drugs

Kumari, Daman ; Bhattacharya, Aditi ; Nadel, Jeffrey ; Moulton, Kristen ; Zeak, Nicole M. ; Glicksman, Anne ; Dobkin, Carl ; Brick, David J. ; Schwartz, Philip H. ; Smith, Carolyn B. ; Klann, Eric ; Usdin, Karen

Human mutation, 2014-12, Vol.35 (12), p.1485-1494 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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3
A distinct neurocognitive phenotype in female fragile-X premutation carriers assessed with visual attention tasks
A distinct neurocognitive phenotype in female fragile-X premutation carriers assessed with visual attention tasks
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A distinct neurocognitive phenotype in female fragile-X premutation carriers assessed with visual attention tasks

Steyaert, Jean ; Legius, Eric ; Borghgraef, Martine ; Fryns, Jean-Pierre

American journal of medical genetics. Part A, 2003-01, Vol.116A (1), p.44-51 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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4
Drosophila Homolog of FMRP Maintains Genome Integrity by Interacting with Piwi
Drosophila Homolog of FMRP Maintains Genome Integrity by Interacting with Piwi
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Drosophila Homolog of FMRP Maintains Genome Integrity by Interacting with Piwi

Jiang, Fangfang ; Lu, Falong ; Li, Peixue ; Liu, Wei ; Zhao, Lu ; Wang, Qifu ; Cao, Xiaofeng ; Zhang, Lei ; Zhang, Yong Q.

Journal of genetics and genomics, 2016-01, Vol.43 (1), p.11-24 [Periódico revisado por pares]

China: Elsevier Ltd

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5
The fragile X continuum: new advances and perspectives
The fragile X continuum: new advances and perspectives
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The fragile X continuum: new advances and perspectives

Cornish, K. ; Turk, J. ; Hagerman, R.

Journal of intellectual disability research, 2008-06, Vol.52 (6), p.469-482 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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6
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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7
Maternal Microbiota Modulate a Fragile X-like Syndrome in Offspring Mice
Maternal Microbiota Modulate a Fragile X-like Syndrome in Offspring Mice
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Maternal Microbiota Modulate a Fragile X-like Syndrome in Offspring Mice

Varian, Bernard J ; Weber, Katherine T ; Kim, Lily J ; Chavarria, Tony E ; Carrasco, Sebastian E ; Muthupalani, Sureshkumar ; Poutahidis, Theofilos ; Zafarullah, Marwa ; Al Olaby, Reem R ; Barboza, Mariana ; Solakyildirim, Kemal ; Lebrilla, Carlito ; Tassone, Flora ; Wu, Fuqing ; Alm, Eric J ; Erdman, Susan E

Genes, 2022-08, Vol.13 (8), p.1409 [Periódico revisado por pares]

Switzerland: MDPI AG

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8
Epitranscriptome and FMRP Regulated mRNA Translation
Epitranscriptome and FMRP Regulated mRNA Translation
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Epitranscriptome and FMRP Regulated mRNA Translation

Majumder, Pritha ; Chatterjee, Biswanath ; Shen, C.-K.

Epigenomes, 2017-09, Vol.1 (2), p.11 [Periódico revisado por pares]

Basel: MDPI AG

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9
Clinical involvement and protein expression in individuals with the FMR1 premutation
Clinical involvement and protein expression in individuals with the FMR1 premutation
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Clinical involvement and protein expression in individuals with the FMR1 premutation

Tassone, 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, Inc

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10
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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