Detalles de la búsqueda
1.
Limb development genes underlie variation in human fingerprint patterns.
Cell;
185(1): 95-112.e18, 2022 01 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-34995520
2.
'Essential Tremor' Phenotype in FMR1 Premutation/Gray Zone Sibling Series: Exploring Possible Genetic Modifiers.
Twin Res Hum Genet;
24(2): 95-102, 2021 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33757613
3.
Relationships between Mitochondrial Function, AMPK, and TORC1 Signaling in Lymphoblasts with Premutation Alleles of the FMR1 Gene.
Int J Mol Sci;
22(19)2021 Sep 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-34638732
4.
Evidence for the role of FMR1 gray zone alleles as a risk factor for parkinsonism in females.
Mov Disord;
33(7): 1178-1181, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-30153395
5.
Novel Blood Biomarkers Are Associated with White Matter Lesions in Fragile X- Associated Tremor/Ataxia Syndrome.
Neurodegener Dis;
17(1): 22-30, 2017.
Artículo
en Inglés
| MEDLINE | ID: mdl-27602566
6.
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.
Hum Mol Genet;
22(8): 1516-24, 2013 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-23307923
7.
Early detection of fragile X syndrome: applications of a novel approach for improved quantitative methylation analysis in venous blood and newborn blood spots.
Clin Chem;
60(7): 963-73, 2014 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-24778142
8.
White matter changes in patients with Parkinson's disease carrying small CGG expansion FMR1 alleles: a pilot study.
Neurodegener Dis;
14(2): 67-76, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24401315
9.
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.
Genet Med;
15(4): 290-8, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-23060046
10.
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.
Clin Chem;
58(3): 590-8, 2012 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22235103
11.
Relationships of Motor Changes with Cognitive and Neuropsychiatric Features in FMR1 Male Carriers Affected with Fragile X-Associated Tremor/Ataxia Syndrome.
Brain Sci;
12(11)2022 Nov 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-36421873
12.
Australian Parkinson's Genetics Study (APGS): pilot (n=1532).
BMJ Open;
12(2): e052032, 2022 Feb 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-35217535
13.
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.
Genet Med;
13(5): 392-9, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21270637
14.
Delineating the Relationships Between Motor, Cognitive-Executive and Psychiatric Symptoms in Female FMR1 Premutation Carriers.
Front Psychiatry;
12: 742929, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34925088
15.
Relationships between motor scores and cognitive functioning in FMR1 female premutation X carriers indicate early involvement of cerebello-cerebral pathways.
Cerebellum Ataxias;
8(1): 15, 2021 Jun 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-34116720
16.
Cellular Bioenergetics and AMPK and TORC1 Signalling in Blood Lymphoblasts Are Biomarkers of Clinical Status in FMR1 Premutation Carriers.
Front Psychiatry;
12: 747268, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34880790
17.
Linkage analysis of a model quantitative trait in humans: finger ridge count shows significant multivariate linkage to 5q14.1.
PLoS Genet;
3(9): 1736-44, 2007 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-17907812
18.
Differential Progression of Motor Dysfunction Between Male and Female Fragile X Premutation Carriers Reveals Novel Aspects of Sex-Specific Neural Involvement.
Front Mol Biosci;
7: 577246, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-33511153
19.
Behavioural and cognitive phenotypes in idiopathic autism versus autism associated with fragile X syndrome.
J Child Psychol Psychiatry;
50(3): 290-9, 2009 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-19175809
20.
Improved methodology for assessment of mRNA levels in blood of patients with FMR1 related disorders.
BMC Clin Pathol;
9: 5, 2009 Jun 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-19505339