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1.
A Novel Triplet-Primed PCR Assay to Detect the Full Range of Trinucleotide CAG Repeats in the Huntingtin Gene (HTT).
Int J Mol Sci
; 22(4)2021 Feb 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-33567536
2.
Expansions and contractions of the FMR1 CGG repeat in 5,508 transmissions of normal, intermediate, and premutation alleles.
Am J Med Genet A
; 179(7): 1148-1156, 2019 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-31050164
3.
Use of human-derived stem cells to create a novel, in vitro model designed to explore FMR1 CGG repeat instability amongst female premutation carriers.
J Assist Reprod Genet
; 35(8): 1443-1455, 2018 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-29926373
4.
Association of skewed X-chromosome inactivation with FMR1 CGG repeat length and anti-Mullerian hormone levels: a cohort study.
Reprod Biol Endocrinol
; 15(1): 34, 2017 Apr 28.
Artículo
en Inglés
| MEDLINE | ID: mdl-28454580
5.
Fragile X full mutation expansions are inhibited by one or more AGG interruptions in premutation carriers.
Genet Med
; 17(5): 358-64, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25210937
6.
CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles.
J Med Genet
; 51(5): 309-18, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24591415
7.
Fragile X syndrome screening in Chinese children with unknown intellectual developmental disorder.
BMC Pediatr
; 15: 77, 2015 Jul 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-26174701
8.
Profiling cancer gene mutations in clinical formalin-fixed, paraffin-embedded colorectal tumor specimens using targeted next-generation sequencing.
Oncologist
; 19(4): 336-43, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24664487
9.
Multisite Verification of a Targeted CFTR Polymerase Chain Reaction/Capillary Electrophoresis Assay That Evaluates Pathogenic Variants Across Diverse Ethnic and Ancestral Groups.
Arch Pathol Lab Med
; 2024 Jan 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-38190268
10.
Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.
Am J Med Genet A
; 161A(4): 771-8, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-23444167
11.
An updated meta-analysis of the primed goal-organizational behaviour relationship.
R Soc Open Sci
; 10(4): 221494, 2023 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-37063985
12.
High-resolution methylation polymerase chain reaction for fragile X analysis: evidence for novel FMR1 methylation patterns undetected in Southern blot analyses.
Genet Med
; 13(6): 528-538, 2011 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-21430544
13.
The Effect of a Dilemma on the Relationship Between Ability to Identify the Criterion (ATIC) and Scores on a Validated Situational Interview.
Front Psychol
; 12: 674815, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34385955
14.
Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants.
J Mol Diagn
; 23(6): 753-764, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33798739
16.
Normalization of microRNA expression levels in quantitative RT-PCR assays: identification of suitable reference RNA targets in normal and cancerous human solid tissues.
RNA
; 14(5): 844-52, 2008 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-18375788
17.
A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.
Clin Chem
; 56(3): 399-408, 2010 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-20056738
18.
Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System.
J Mol Diagn
; 22(3): 346-354, 2020 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-31866572
19.
A Genotype-Phenotype Study of High-Resolution FMR1 Nucleic Acid and Protein Analyses in Fragile X Patients with Neurobehavioral Assessments.
Brain Sci
; 10(10)2020 Sep 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-33008014
20.
Correction: Novel Insight into Mutational Landscape of Head and Neck Squamous Cell Carcinoma.
PLoS One
; 15(5): e0233409, 2020.
Artículo
en Inglés
| MEDLINE | ID: mdl-32401780