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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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The Face Deepfake Detection Challenge

Journal of imaging, 2022-09, Vol.8 (10), p.263

2022

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New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease

Clinical genetics, 2013-10, Vol.84 (4), p.382-385

2013

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Feasibility of wearable technology for ‘real‐world’ gait analysis in children with Prader–Willi and Angelman syndromes

Journal of intellectual disability research, 2022-08, Vol.66 (8-9), p.717-725

2022

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Left Ventricular Strain and Progression of Hypertrophy in Danon Disease Cardiomyopathy: Insights from a Global Registry

The Journal of heart and lung transplantation, 2020-04, Vol.39 (4), p.S154-S154

2020

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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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β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles

Scientific reports, 2016-07, Vol.6 (1), p.29366, Article 29366

2016

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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. Part A, 2003-09, Vol.122A (1), p.13-23

2003

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Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females

Translational psychiatry, 2016-12, Vol.6 (12), p.e984-e984

2016

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The effects of mode of exercise instruction on compliance with a home exercise program in older adults with osteoarthritis

Physiotherapy, 2005-06, Vol.91 (2), p.79-86

2005

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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. Part A, 2003-04, Vol.118A (2), p.127-134

2003

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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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Fracture risk and height: An association partly accounted for by cortical porosity of relatively thinner cortices

Journal of bone and mineral research, 2013-09, Vol.28 (9), p.2017-2026

2013

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Inference for the random coefficients bifurcating autoregressive model for cell lineage studies

Journal of statistical planning and inference, 1999-11, Vol.81 (2), p.253-262

1999

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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

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The heterogeneity in femoral neck structure and strength

Journal of bone and mineral research, 2013-05, Vol.28 (5), p.1022-1028

2013

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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

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

2013

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A Genome-wide Association Study of Early-Onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age

Cancer epidemiology, biomarkers & prevention, 2014-04, Vol.23 (4), p.658-669

2014

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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

Journal of medical genetics, 2007-03, Vol.44 (3), p.200-204

2007

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Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

Genetics in medicine, 2013-04, Vol.15 (4), p.290-298

2013

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Growth in stature and head circumference in high-functioning autism and Asperger disorder during the first 3 years of life

Development and psychopathology, 2006-06, Vol.18 (2), p.381-393

2006

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Successful treatment of HIV-negative Kaposi sarcoma with ipilimumab and nivolumab and concurrent management of baseline psoriasis and bullous pemphigoid

JAAD Case Reports, 2020-05, Vol.6 (5), p.447-449

2020

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[beta]-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles

Scientific reports, 2016-07, Vol.6, p.29366

2016

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Effect of the Fragile X Status Categories and the Fragile X Mental Retardation Protein Levels on Executive Functioning in Males and Females With Fragile X

Neuropsychology, 2003-10, Vol.17 (4), p.646-657

2003

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Neuropathic Pain Following Sagittal Split Ramus Osteotomy of the Mandible: Prevalence, Risk Factors, and Clinical Course

Journal of oral and maxillofacial surgery, 2013-12, Vol.71 (12), p.2115-2122

2013

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

The Face Deepfake Detection Challenge

New evidence for, and challenges in, linking small CGG repeat expansion FMR1 alleles with Parkinson's disease

Feasibility of wearable technology for ‘real‐world’ gait analysis in children with Prader–Willi and Angelman syndromes

Left Ventricular Strain and Progression of Hypertrophy in Danon Disease Cardiomyopathy: Insights from a Global Registry

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

β-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles

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

Brain structure and intragenic DNA methylation are correlated, and predict executive dysfunction in fragile X premutation females

The effects of mode of exercise instruction on compliance with a home exercise program in older adults with osteoarthritis

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

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

Fracture risk and height: An association partly accounted for by cortical porosity of relatively thinner cortices

Inference for the random coefficients bifurcating autoregressive model for cell lineage studies

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

The heterogeneity in femoral neck structure and strength

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

A Genome-wide Association Study of Early-Onset Breast Cancer Identifies PFKM as a Novel Breast Cancer Gene and Supports a Common Genetic Spectrum for Breast Cancer at Any Age

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

Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study

Growth in stature and head circumference in high-functioning autism and Asperger disorder during the first 3 years of life

Successful treatment of HIV-negative Kaposi sarcoma with ipilimumab and nivolumab and concurrent management of baseline psoriasis and bullous pemphigoid

[beta]-glucuronidase mRNA levels are correlated with gait and working memory in premutation females: understanding the role of FMR1 premutation alleles

Effect of the Fragile X Status Categories and the Fragile X Mental Retardation Protein Levels on Executive Functioning in Males and Females With Fragile X

Neuropathic Pain Following Sagittal Split Ramus Osteotomy of the Mandible: Prevalence, Risk Factors, and Clinical Course

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