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DNA methylation analysis of multiple imprinted DMRs in Sotos syndrome reveals IGF2‐DMR0 as a DNA methylation‐dependent, P0 promoter‐specific enhancer.
- Published in:
- FASEB Journal, 2020, v. 34, n. 1, p. 960, doi. 10.1096/fj.201901757R
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- Article
Homozygous deletion of DIS3L2 exon 9 due to non-allelic homologous recombination between LINE-1s in a Japanese patient with Perlman syndrome.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1316, doi. 10.1038/ejhg.2013.45
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- Article
Japanese and North American/European patients with Beckwith–Wiedemann syndrome have different frequencies of some epigenetic and genetic alterations.
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- European Journal of Human Genetics, 2007, v. 15, n. 12, p. 1205, doi. 10.1038/sj.ejhg.5201912
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- Article
Comprehensive methylation analysis of imprinting-associated differentially methylated regions in colorectal cancer.
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- Clinical Epigenetics, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13148-018-0578-9
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- Article
Sequence-based Structural Features between Kvlqt1 and Tapa1 on Mouse Chromosome 7F4/F5 Corresponding to the Beckwith-Wiedemann Syndrome Region on Human 11p15.5 : long-stretches of Unusually Well Conserved Intronic Sequences of Kvlqt1 between Mouse ...
- Published in:
- DNA Research, 2000, v. 7, n. 3, p. 195, doi. 10.1093/dnares/7.3.195
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- Article
Antisense Transcription Occurs at the Promoter of a Mouse Imprinted Gene, Commd1, on the Repressed Paternal Allele.
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- Journal of Biochemistry, 2009, v. 146, n. 6, p. 771, doi. 10.1093/jb/mvp147
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- Article
A Novel Imprinted Gene, KCNQ1DN, within the WT2 Critical Region of Human Chromosome 11p15.5 and Its Reduced Expression in Wilms' Tumors1.
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- Journal of Biochemistry, 2000, v. 128, n. 5, p. 847, doi. 10.1093/oxfordjournals.jbchem.a022823
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- Article
MeCP2 knockdown reveals DNA methylation-independent gene repression of target genes in living cells and a bias in the cellular location of target gene products.
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- Genes & Genetic Systems, 2008, v. 83, n. 2, p. 199, doi. 10.1266/ggs.83.199
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- Article
A BHD Germline Mutation Identified in an Asian Family with Birt-Hogg-Dubé Syndrome.
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- 2008
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- Publication type:
- Letter
Acute megakaryocytic leukemia (AMKL,FAB;M7) with Beckwith-wiedemann syndrome.
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- Pediatric Blood & Cancer, 2010, v. 55, n. 4, p. 733, doi. 10.1002/pbc.22650
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- Article
Comprehensive analyses of imprinted differentially methylated regions reveal epigenetic and genetic characteristics in hepatoblastoma.
- Published in:
- BMC Cancer, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2407-13-608
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- Article
Comprehensive analyses of imprinted differentially methylated regions reveal epigenetic and genetic characteristics in hepatoblastoma.
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- 2013
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- Publication type:
- journal article
Identification of consensus motifs associated with mitotic recombination and clinical characteristics in patients with paternal uniparental isodisomy of chromosome 11.
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- Human Molecular Genetics, 2016, v. 25, n. 7, p. 1406, doi. 10.1093/hmg/ddw023
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- Article
Phenotypically concordant but epigenetically discordant monozygotic dichorionic diamniotic twins with Beckwith–Wiedemann syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 3062, doi. 10.1002/ajmg.a.62364
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- Article
Aberrant methylation of H19-DMR acquired after implantation was dissimilar in soma versus placenta of patients with Beckwith-Wiedemann syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1670, doi. 10.1002/ajmg.a.35335
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- Article
Aberrant hypomethylation at imprinted differentially methylated regions is involved in biparental placental mesenchymal dysplasia.
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- Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01280-0
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- Publication type:
- Article
Growing oocyte-specific transcription-dependent de novo DNA methylation at the imprinted <italic>Zrsr1</italic>-DMR.
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- Epigenetics & Chromatin, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13072-018-0200-6
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- Article