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Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene
Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene
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Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene

Loesch, D Z ; Sherwell, S ; Kinsella, G ; Tassone, F ; Taylor, A ; Amor, D ; Sung, S ; Evans, A

Clinical genetics, 2012-07, Vol.82 (1), p.88-92 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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2
Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism
Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism
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Small CGG repeat expansion alleles of FMR1 gene are associated with parkinsonism

Loesch, DZ ; Khaniani, MS ; Slater, HR ; Rubio, JP ; Bui, QM ; Kotschet, K ; D'Souza, W ; Venn, A ; Kalitsis, P ; Choo, AKH ; Burgess, T ; Johnson, L ; Evans, A ; Horne, M

Clinical genetics, 2009-11, Vol.76 (5), p.471-476 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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3
Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion
Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion
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Psychological status in female carriers of premutation FMR1 allele showing a complex relationship with the size of CGG expansion

Loesch, D. Z. ; Bui, M. Q. ; Hammersley, E. ; Schneider, A. ; Storey, E. ; Stimpson, P. ; Burgess, T. ; Francis, D. ; Slater, H. ; Tassone, F. ; Hagerman, R. J. ; Hessl, D.

Clinical genetics, 2015-02, Vol.87 (2), p.173-178 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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4
Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation
Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation
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Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation

Hessl, David ; Tassone, Flora ; Loesch, Danuta Z. ; Berry-Kravis, Elizabeth ; Leehey, Maureen A. ; Gane, Louise W. ; Barbato, Ingrid ; Rice, Cathlin ; Gould, Emma ; Hall, Deborah A. ; Grigsby, James ; Wegelin, Jacob A. ; Harris, Susan ; Lewin, Foster ; Weinberg, Dahlia ; Hagerman, Paul J. ; Hagerman, Randi J.

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2005-11, Vol.139B (1), p.115-121 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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5
Linkage analysis of a model quantitative trait in humans: finger ridge count shows significant multivariate linkage to 5q14.1
Linkage analysis of a model quantitative trait in humans: finger ridge count shows significant multivariate linkage to 5q14.1
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Linkage analysis of a model quantitative trait in humans: finger ridge count shows significant multivariate linkage to 5q14.1

Medland, Sarah E ; Loesch, Danuta Z ; Mdzewski, Bogdan ; Zhu, Gu ; Montgomery, Grant W ; Martin, Nicholas G Marchini, Jonathan

PLoS genetics, 2007-09, Vol.3 (9), p.1736-1744 [Periódico revisado por pares]

United States: Public Library of Science

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6
White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism
White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism
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White matter changes in basis pontis in small expansion FMR1 allele carriers with parkinsonism

Loesch, D.Z. ; Kotschet, K. ; Trost, N. ; Greco, C.M. ; Kinsella, G. ; Slater, H.R. ; Venn, A. ; Horne, M.

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2011-06, Vol.156B (4), p.502-506 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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7
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty
Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty
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Relationships between age and epi-genotype of the FMR1 exon 1/intron 1 boundary are consistent with non-random X-chromosome inactivation in FM individuals, with the selection for the unmethylated state being most significant between birth and puberty

Godler, David E ; Inaba, Yoshimi ; Shi, Elva Z ; Skinner, Cindy ; Bui, Quang M ; Francis, David ; Amor, David J ; Hopper, John L ; Loesch, Danuta Z ; Hagerman, Randi J ; Schwartz, Charles E ; Slater, Howard R

Human molecular genetics, 2013-04, Vol.22 (8), p.1516-1524 [Periódico revisado por pares]

England: Oxford University Press

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8
The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers
The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers
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The Spectrum of Neurological and White Matter Changes and Premutation Status Categories of Older Male Carriers of the FMR1 Alleles Are Linked to Genetic (CGG and FMR1 mRNA) and Cellular Stress (AMPK) Markers

Loesch, Danuta Z ; Trost, Nicholas ; Bui, Minh Q ; Hammersley, Eleanor ; Lay, Sui T ; Annesley, Sarah J ; Sanislav, Oana ; Allan, Claire Y ; Tassone, Flora ; Chen, Zhi-Ping ; Ngoei, Kevin R W ; Kemp, Bruce E ; Francis, David ; Fisher, Paul R ; Storey, Elsdon

Frontiers in genetics, 2018-11, Vol.9, p.531-531 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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9
Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond
Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond
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Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond

Loesch, DZ ; Churchyard, A ; Brotchie, P ; Marot, M ; Tassone, F

Clinical genetics, 2005-05, Vol.67 (5), p.412-417 [Periódico revisado por pares]

Oxford, UK; Malden, USA: Blackwell Publishing Ltd/Inc

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10
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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