Found: 25
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Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome.
- Published in:
- 2007
- By:
- Publication type:
- journal article
ROBUST NON-PARAMETRIC ESTIMATION OF GENOTYPE–PHENOTYPE RELATIONSHIPS IN HUMAN PEDIGREES.
- Published in:
- 2004
- By:
- Publication type:
- Other
Fragile X syndrome: do professionals know about it?
- Published in:
- Medical Journal of Australia, 1999, v. 170, n. 12, p. 624, doi. 10.5694/j.1326-5377.1999.tb127927.x
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- Publication type:
- Article
Epidermal ridge patterns in medicine.
- Published in:
- Medical Journal of Australia, 1994, v. 161, n. 11, p. 709, doi. 10.5694/j.1326-5377.1994.tb126927.x
- By:
- Publication type:
- Article
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.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 8, p. 1516, doi. 10.1093/hmg/ddt002
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- Publication type:
- Article
Autism Spectrum Phenotype in Males and Females with Fragile X Full Mutation and Premutation.
- Published in:
- Journal of Autism & Developmental Disorders, 2007, v. 37, n. 4, p. 738, doi. 10.1007/s10803-006-0205-z
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- Publication type:
- Article
Skeletal Growth Dysregulation in Australian Male Infants and Toddlers With Autism Spectrum Disorder.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2018, v. 11, n. 6, p. 846, doi. 10.1002/aur.1952
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- Publication type:
- Article
Relationships between Mitochondrial Function, AMPK, and TORC1 Signaling in Lymphoblasts with Premutation Alleles of the FMR1 Gene.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 19, p. 10393, doi. 10.3390/ijms221910393
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- Publication type:
- Article
Total and Regional White Matter Lesions Are Correlated With Motor and Cognitive Impairments in Carriers of the FMR1 Premutation.
- Published in:
- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00832
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- Publication type:
- Article
Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X-Associated Tremor/Ataxia Syndrome.
- Published in:
- Neurodegenerative Diseases, 2016, v. 17, n. 1, p. 22, doi. 10.1159/000446803
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- Publication type:
- Article
White Matter Changes in Patients with Parkinson's Disease Carrying Small CGG Expansion FMR1 Alleles: A Pilot Study.
- Published in:
- Neurodegenerative Diseases, 2014, v. 14, n. 2, p. 67, doi. 10.1159/000356190
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- Publication type:
- Article
Linkage Analysis of a Model Quantitative Trait in Humans: Finger Ridge Count Shows Significant Multivariate Linkage to 5q14.1.
- Published in:
- PLoS Genetics, 2007, v. 3, n. 9, p. 1736, doi. 10.1371/journal.pgen.0030165
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- Publication type:
- Article
Behavioural and cognitive phenotypes in idiopathic autism versus autism associated with fragile X syndrome.
- Published in:
- Journal of Child Psychology, 2009, v. 50, n. 3, p. 290, doi. 10.1111/j.1469-7610.2008.01988.x
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- Publication type:
- Article
Early Detection of Fragile X Syndrome: Applications of a Novel Approach for Improved Quantitative Methylation Analysis in Venous Blood and Newborn Blood Spots.
- Published in:
- Clinical Chemistry, 2014, v. 60, n. 7, p. 963, doi. 10.1373/clinchem.2013.217331
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- Publication type:
- Article
'Essential Tremor' Phenotype in FMR1 Premutation/Gray Zone Sibling Series: Exploring Possible Genetic Modifiers.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Cognitive status correlates of subclinical action tremor in female carriers of FMR1 premutation.
- Published in:
- Frontiers in Neurology, 2024, p. 1, doi. 10.3389/fneur.2024.1401286
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- Publication type:
- Article
Fragile X Mental Retardation 1 (FMR1) Intron 1 Methylation in Blood Predicts Verbal Cognitive Impairment in Female Carriers of Expanded FMR1 Alleles: Evidence from a Pilot Study.
- Published in:
- Clinical Chemistry, 2012, v. 58, n. 3, p. 590, doi. 10.1373/clinchem.2011.177626
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- Publication type:
- Article
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.
- Published in:
- Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00531
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- Publication type:
- Article
'Reduction' of CGG trinucleotide expansion from mother to offspring in seven fragile-X families.
- Published in:
- Clinical Genetics, 1997, v. 51, n. 1, p. 1, doi. 10.1111/j.1399-0004.1997.tb02405.x
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- Publication type:
- Article
Effect of the fragile X anomaly on body proportions estimated by pedigree analysis.
- Published in:
- Clinical Genetics, 1993, v. 44, n. 2, p. 82, doi. 10.1111/j.1399-0004.1993.tb03852.x
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- Publication type:
- Article
Application of the anthropometric discriminant functions in estimation of carrier probabilities in Martin-Bell syndrome.
- Published in:
- Clinical Genetics, 1989, v. 36, n. 3, p. 145, doi. 10.1111/j.1399-0004.1989.tb03180.x
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- Publication type:
- Article
Magnetic resonance imaging study in older fragile X premutation male carriers.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 2, p. 326
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- Publication type:
- Article
Discriminant analysis of dermatoglyphic measurements in fragile X males and females.
- Published in:
- Clinical Genetics, 1988, v. 33, n. 3, p. 169, doi. 10.1111/j.1399-0004.1988.tb03433.x
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- Publication type:
- Article
Relationship of birth weight and length with growth in height and body diameters from 5 years of age to maturity.
- Published in:
- American Journal of Human Biology, 1999, v. 11, n. 6, p. 772, doi. 10.1002/(SICI)1520-6300(199911/12)11:6<772::AID-AJHB7>3.0.CO;2-H
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- Publication type:
- Article