Detalhe da pesquisa
1.
Repeat expansions confer WRN dependence in microsatellite-unstable cancers.
Nature
; 586(7828): 292-298, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32999459
2.
A point mutation in the nuclease domain of MLH3 eliminates repeat expansions in a mouse stem cell model of the Fragile X-related disorders.
Nucleic Acids Res
; 48(14): 7856-7863, 2020 08 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32619224
3.
Recent advances in assays for the fragile X-related disorders.
Hum Genet
; 136(10): 1313-1327, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28866801
4.
Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome.
Hum Mol Genet
; 23(11): 2940-52, 2014 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24419320
5.
Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.
Nat Genet
; 38(8): 917-20, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16845398
6.
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
Nat Genet
; 38(8): 910-6, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16845400
7.
Mutations causing familial biparental hydatidiform mole implicate c6orf221 as a possible regulator of genomic imprinting in the human oocyte.
Am J Hum Genet
; 89(3): 451-8, 2011 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21885028
8.
Simple detection of germline microsatellite instability for diagnosis of constitutional mismatch repair cancer syndrome.
Hum Mutat
; 34(6): 847-52, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23483711
9.
Activation Ratio Correlates with IQ in Female Carriers of the FMR1 Premutation.
Cells
; 12(13)2023 06 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37443745
10.
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia.
Am J Hum Genet
; 85(5): 737-44, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19896110
11.
Mechanisms of Genome Instability in the Fragile X-Related Disorders.
Genes (Basel)
; 12(10)2021 10 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34681027
12.
IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease.
Hum Mutat
; 30(6): 960-7, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19405095
13.
Genetic and epigenetic analysis of recurrent hydatidiform mole.
Hum Mutat
; 30(5): E629-39, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19309689
14.
Ketohexokinase: expression and localization of the principal fructose-metabolizing enzyme.
J Histochem Cytochem
; 57(8): 763-74, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19365088
15.
Assays for Determining Repeat Number, Methylation Status, and AGG Interruptions in the Fragile X-Related Disorders.
Methods Mol Biol
; 1942: 49-59, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30900174
16.
Extensive gene conversion at the PMS2 DNA mismatch repair locus.
Hum Mutat
; 28(5): 424-30, 2007 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-17253626
17.
Improved Assays for AGG Interruptions in Fragile X Premutation Carriers.
J Mol Diagn
; 19(6): 828-835, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28818679
18.
A tubulin alpha 8 mouse knockout model indicates a likely role in spermatogenesis but not in brain development.
PLoS One
; 12(4): e0174264, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28388629
19.
A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders.
J Mol Diagn
; 18(5): 762-774, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27528259
20.
Properties of normal and mutant recombinant human ketohexokinases and implications for the pathogenesis of essential fructosuria.
Diabetes
; 52(9): 2426-32, 2003 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-12941785