Detalhe da pesquisa
1.
Whole-exome sequencing reveals causative genetic variants for several overgrowth syndromes in molecularly negative Beckwith-Wiedemann spectrum.
J Med Genet;
61(6): 590-594, 2024 May 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38228391
2.
Possible regulation of ganglioside GD3 synthase gene expression with DNA methylation in human glioma cells.
Glycoconj J;
40(3): 323-332, 2023 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36897478
3.
Hypomethylation of a centromeric block of ICR1 is sufficient to cause Silver-Russell syndrome.
J Med Genet;
58(6): 422-425, 2021 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32447322
4.
DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2-DMR0 as a DNA methylation-dependent, P0 promoter-specific enhancer.
FASEB J;
34(1): 960-973, 2020 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31914674
5.
Phenotypically concordant but epigenetically discordant monozygotic dichorionic diamniotic twins with Beckwith-Wiedemann syndrome.
Am J Med Genet A;
185(10): 3062-3067, 2021 10.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34037318
6.
Clinical manifestations of placental mesenchymal dysplasia in Japan: A multicenter case series.
J Obstet Gynaecol Res;
47(3): 1118-1125, 2021 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33462953
7.
The extent of DNA methylation anticipation due to a genetic defect in ICR1 in Beckwith-Wiedemann syndrome.
J Hum Genet;
64(9): 937-943, 2019 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31235774
8.
Habitual Light-intensity Physical Activity and ASC Methylation in a Middle-aged Population.
Int J Sports Med;
40(10): 670-677, 2019 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31342477
9.
Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.
Hum Mol Genet;
25(7): 1406-19, 2016 Apr 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26908620
10.
CTCF deletion syndrome: clinical features and epigenetic delineation.
J Med Genet;
54(12): 836-842, 2017 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28848059
11.
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.
Hum Mutat;
38(6): 637-648, 2017 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28229514
12.
Long term survival of a patient with Perlman syndrome due to novel compound heterozygous missense mutations in RNB domain of DIS3L2.
Am J Med Genet A;
173(4): 1077-1081, 2017 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28328139
13.
Ash1l methylates Lys36 of histone H3 independently of transcriptional elongation to counteract polycomb silencing.
PLoS Genet;
9(11): e1003897, 2013 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24244179
14.
Novel Nonsense Mutation in the NLRP7 Gene Associated with Recurrent Hydatidiform Mole.
Gynecol Obstet Invest;
81(4): 353-8, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26606510
15.
Comprehensive and quantitative multilocus methylation analysis reveals the susceptibility of specific imprinted differentially methylated regions to aberrant methylation in Beckwith-Wiedemann syndrome with epimutations.
Genet Med;
16(12): 903-12, 2014 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24810686
16.
Fibroadenoma in Beckwith-Wiedemann syndrome with paternal uniparental disomy of chromosome 11p15.5.
Pediatr Int;
56(6): 931-934, 2014 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25521982
17.
Epigenetic and genetic alterations of the imprinting disorder Beckwith-Wiedemann syndrome and related disorders.
J Hum Genet;
58(7): 402-9, 2013 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23719190
18.
Comprehensive analyses of imprinted differentially methylated regions reveal epigenetic and genetic characteristics in hepatoblastoma.
BMC Cancer;
13: 608, 2013 Dec 27.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24373183
19.
Congenital hyperinsulinism in an infant with paternal uniparental disomy on chromosome 11p15: few clinical features suggestive of Beckwith-Wiedemann syndrome.
Endocr J;
60(4): 403-8, 2013.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23197114
20.
DNA Methylation Analysis Using Bisulfite Pyrosequencing.
Methods Mol Biol;
2577: 3-20, 2023.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36173562