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

Clinical genetics, 2012-07, Vol.82 (1), p.88-92

2012

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

Clinical genetics, 2009-11, Vol.76 (5), p.471-476

2009

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

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2011-06, Vol.156B (4), p.502-506

2011

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

Clinical genetics, 2005-05, Vol.67 (5), p.412-417

2005

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Secular trend in body height and weight of Australian children and adolescents

American journal of physical anthropology, 2000-04, Vol.111 (4), p.545-556

2000

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A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes

Journal of medical genetics, 2008-03, Vol.45 (3), p.179-181

2008

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

Clinical genetics, 2015-02, Vol.87 (2), p.173-178

2015

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Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis

American journal of medical genetics, 2003-09, Vol.122A (1), p.13-23

2003

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Relationship of deficits of FMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: A new perspective

American journal of medical genetics, 2003-04, Vol.118A (2), p.127-134

2003

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FMR1 alleles in Tasmania: a screening study of the special educational needs population

Clinical genetics, 2005-01, Vol.67 (1), p.38-46

2005

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Genotype-phenotype relationships in fragile X syndrome : a family study

American journal of human genetics, 1993-11, Vol.53 (5), p.1064-1073

1993

Volltextzugriff (PDF)

FRAXE and mental retardation

Journal of medical genetics, 1995-03, Vol.32 (3), p.162-169

1995

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Hierarchical Bayes model for random haplotype and family effects in the transmission of fragile-X

Genetic epidemiology, 2004-05, Vol.26 (4), p.294-304

2004

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Tremor/ataxia syndrome and fragile X premutation: Diagnostic caveats

Journal of clinical neuroscience, 2007-03, Vol.14 (3), p.245-248

2007

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Analysis of longitudinal data from twins

Genetic epidemiology, 2000-12, Vol.19 (4), p.345-353

2000

Volltextzugriff (PDF)

On the Analysis of Mixed Longitudinal Growth Data

Biometrics, 1998-06, Vol.54 (2), p.583-595

1998

Volltextzugriff (PDF)

Fragile X syndrome: do professionals know about it?

Medical journal of Australia, 1999-06, Vol.170 (12), p.624-624

1999

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Epidermal ridge patterns in medicine

Medical journal of Australia, 1994-12, Vol.161 (11), p.709-711

Loesch, Danuta Z

1994

Volltextzugriff (PDF)

Timing and genetic rapport between growth in skeletal maturity and height around puberty : similarities and differences between girls and boys

American journal of human genetics, 1995-03, Vol.56 (3), p.753-759

1995

Volltextzugriff (PDF)

Clinical features and reproductive patterns in fragile X female heterozygotes

Journal of medical genetics, 1988-06, Vol.25 (6), p.407-414

1988

Volltextzugriff (PDF)

A branching non-linear autoregressive model for the transmission of the fragile X dynamic repeat mutation

Annals of human genetics, 1998-07, Vol.62 (4), p.337-347

1998

Volltextzugriff (PDF)

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

Genetics in medicine, 2011-05, Vol.13 (5), p.392-399

2011

Volltextzugriff (PDF)

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

Human molecular genetics, 2013-04, Vol.22 (8), p.1516-1524

2013

Volltextzugriff (PDF)

Genetic correlates of menarcheal age: a multivariate twin study

Annals of human biology, 1995-11, Vol.22 (6), p.479-490

1995

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Use of robust statistical methods to determine the effect of fragile X on means and variance components of a quantitative trait

Genetic epidemiology, 1995, Vol.12 (3), p.279-290

1995

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

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

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

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

Secular trend in body height and weight of Australian children and adolescents

A low symptomatic form of neurodegeneration in younger carriers of the FMR1 premutation, manifesting typical radiological changes

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

Effect of fragile X status categories and FMRP deficits on cognitive profiles estimated by robust pedigree analysis

Relationship of deficits of FMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: A new perspective

FMR1 alleles in Tasmania: a screening study of the special educational needs population

Genotype-phenotype relationships in fragile X syndrome : a family study

FRAXE and mental retardation

Hierarchical Bayes model for random haplotype and family effects in the transmission of fragile-X

Tremor/ataxia syndrome and fragile X premutation: Diagnostic caveats

Analysis of longitudinal data from twins

On the Analysis of Mixed Longitudinal Growth Data

Fragile X syndrome: do professionals know about it?

Epidermal ridge patterns in medicine

Timing and genetic rapport between growth in skeletal maturity and height around puberty : similarities and differences between girls and boys

Clinical features and reproductive patterns in fragile X female heterozygotes

A branching non-linear autoregressive model for the transmission of the fragile X dynamic repeat mutation

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

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

Genetic correlates of menarcheal age: a multivariate twin study

Use of robust statistical methods to determine the effect of fragile X on means and variance components of a quantitative trait

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