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1.
Diagnostic application of kidney allograft-derived absolute cell-free DNA levels during transplant dysfunction.
Am J Transplant
; 19(4): 1037-1049, 2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30312536
2.
Significantly Elevated FMR1 mRNA and Mosaicism for Methylated Premutation and Full Mutation Alleles in Two Brothers with Autism Features Referred for Fragile X Testing.
Int J Mol Sci
; 20(16)2019 Aug 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31405222
3.
ADGRV1 is implicated in myoclonic epilepsy.
Epilepsia
; 59(2): 381-388, 2018 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-29266188
4.
Identification of Males with Cryptic Fragile X Alleles by Methylation-Specific Quantitative Melt Analysis.
Clin Chem
; 62(2): 343-52, 2016 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-26715660
5.
Clinical audit of genetic testing and referral patterns for fragile X and associated conditions.
Am J Med Genet A
; 170(6): 1439-49, 2016 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-26892444
6.
Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report.
Am J Med Genet A
; 170(12): 3327-3332, 2016 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-27696642
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.
Hum Mol Genet
; 22(8): 1516-24, 2013 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-23307923
8.
Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis.
Expert Rev Mol Med
; 17: e13, 2015 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-26132880
9.
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
10.
Use of copy number deletion polymorphisms to assess DNA chimerism.
Clin Chem
; 60(8): 1105-14, 2014 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-24899692
11.
Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.
Am J Med Genet A
; 164A(1): 77-86, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-24352913
12.
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
13.
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
14.
Application of a new molecular technique for the genetic evaluation of products of conception.
Prenat Diagn
; 33(1): 32-41, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23168908
15.
High resolution chromosomal microarray in undiagnosed neurological disorders.
J Paediatr Child Health
; 49(9): 716-24, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23731025
16.
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature.
Am J Med Genet B Neuropsychiatr Genet
; 162B(4): 388-403, 2013 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-23533028
17.
Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.
Hum Mol Genet
; 19(8): 1618-32, 2010 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-20118148
18.
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
19.
Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays.
Hum Mutat
; 32(12): 1500-6, 2011 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-21850686
20.
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