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Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family.
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- Pediatric & Developmental Pathology, 2010, v. 13, n. 4, p. 326, doi. 10.2350/09-07-0686-CR.1
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- Article
Silver-Russell Syndrome Following In Vitro Fertilization.
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- Pediatric & Developmental Pathology, 2008, v. 11, n. 4, p. 329, doi. 10.2350/08-04-0458.1
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- Article
Is ZFP57 binding to H19/IGF2:IG-DMR affected in Silver-Russell syndrome?
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- Clinical Epigenetics, 2018, v. 10, p. 1, doi. 10.1186/s13148-018-0454-7
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- Article
A splicing mutation of the HMGA2 gene is associated with Silver-Russell syndrome phenotype.
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- Journal of Human Genetics, 2015, v. 60, n. 6, p. 287, doi. 10.1038/jhg.2015.29
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- Article
ZFP57 maintains the parent-of-origin-specific expression of the imprinted genes and differentially affects non-imprinted targets in mouse embryonic stem cells.
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- Nucleic Acids Research, 2016, v. 44, n. 17, p. 8165, doi. 10.1093/nar/gkw505
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- Article
ZFP57 recognizes multiple and closely spaced sequence motif variants to maintain repressive epigenetic marks in mouse embryonic stem cells.
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- Nucleic Acids Research, 2016, v. 44, n. 3, p. 1118, doi. 10.1093/nar/gkv1059
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- Article
Imprinting at the PLAGL1 domain is contained within a 70-kb CTCF/cohesin-mediated non-allelic chromatin loop.
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- Nucleic Acids Research, 2013, v. 41, n. 4, p. 2171, doi. 10.1093/nar/gks1355
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- Article
Giant breast tumors in a patient with Beckwith-Wiedemann syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 182, doi. 10.1002/ajmg.a.36191
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- Article
Prevalence of beckwith-wiedemann syndrome in North West of Italy.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2481, doi. 10.1002/ajmg.a.36080
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- Article
Silver-Russell syndrome due to paternal H19/ IGF2 hypomethylation in a twin girl born after in vitro fertilization.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 10, p. 2652, doi. 10.1002/ajmg.a.36145
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- Article
Gain of function in CDKN1C.
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- Nature Genetics, 2012, v. 44, n. 7, p. 737, doi. 10.1038/ng.2336
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- Article
Wilms tumor and constitutional epigenetic defects.
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- Nature Genetics, 2008, v. 40, n. 11, p. 1272, doi. 10.1038/ng1108-1272
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- Article
Reply to "Microdeletion and IGF2 loss of imprinting in a cascade causing Beckwith-Wiedemann syndrome with Wilms' tumor".
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- 2005
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- Publication type:
- Letter
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.
- Published in:
- Nature Genetics, 2004, v. 36, n. 9, p. 958, doi. 10.1038/ng1410
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- Article
Tissue-specific and mosaic imprinting defects underlie opposite congenital growth disorders in mice.
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- PLoS Genetics, 2018, v. 14, n. 2, p. 1, doi. 10.1371/journal.pgen.1007243
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- Publication type:
- Article
LOCOMOTOMIC: APLICATIVO DE ANATOMIA HUMANA PARA O ENSINO ATRAVÉS DA REALIDADE VIRTUAL.
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- Brazilian Journal of Education, Technology & Society (BRAJETS) / Cadernos de Educação Tecnologia e Sociedade (CETS), 2023, v. 16, n. 4, p. 951, doi. 10.14571/brajets.v16.n4.951-969
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- Article
First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders.
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- Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01358-9
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- Article
Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences.
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- Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01259-x
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- Article
Insulin Like Growth Factor 2 Expression in the Rat Brain Both in Basal Condition and following Learning Predominantly Derives from the Maternal Allele.
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- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0141078
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- Article
Distinct Methylation Changes at the IGF2-H19 Locus in Congenital Growth Disorders and Cancer.
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- PLoS ONE, 2008, v. 3, n. 3, p. 1, doi. 10.1371/journal.pone.0001849
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- Publication type:
- Article
The 5′ end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome.
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- Human Genetics, 2002, v. 111, n. 1, p. 105, doi. 10.1007/s00439-002-0751-1
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- Article
Epigenetic Alterations in Inborn Errors of Immunity.
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- Journal of Clinical Medicine, 2022, v. 11, n. 5, p. 1261, doi. 10.3390/jcm11051261
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- Article
ICF1-Syndrome-Associated DNMT3B Mutations Prevent De Novo Methylation at a Subset of Imprinted Loci during iPSC Reprogramming.
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- Biomolecules (2218-273X), 2023, v. 13, n. 12, p. 1717, doi. 10.3390/biom13121717
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- Publication type:
- Article
Co-Occurrence of Beckwith–Wiedemann Syndrome and Early-Onset Colorectal Cancer.
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- Cancers, 2023, v. 15, n. 7, p. 1944, doi. 10.3390/cancers15071944
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- Article
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development.
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- Cancers, 2023, v. 15, n. 3, p. 773, doi. 10.3390/cancers15030773
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- Article
Both Epimutations and Chromosome Aberrations Affect Multiple Imprinted Loci in Aggressive Wilms Tumors.
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- Cancers, 2020, v. 12, n. 11, p. 3411, doi. 10.3390/cancers12113411
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- Article
Looking for CDKN1C enhancers.
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- European Journal of Human Genetics, 2014, v. 22, n. 4, p. 442, doi. 10.1038/ejhg.2013.234
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- Article
Clinical utility gene card for: Beckwith-Wiedemann Syndrome.
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- European Journal of Human Genetics, 2014, v. 22, n. 3, p. 1, doi. 10.1038/ejhg.2013.132
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- Publication type:
- Article
Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome.
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- European Journal of Human Genetics, 2009, v. 17, n. 5, p. 611, doi. 10.1038/ejhg.2008.233
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- Publication type:
- Article
MS-MLPA is a specific and sensitive technique for detecting all chromosome 11p15.5 imprinting defects of BWS and SRS in a single-tube experiment.
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- European Journal of Human Genetics, 2008, v. 16, n. 5, p. 565, doi. 10.1038/sj.ejhg.5202001
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- Article
Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome.
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- European Journal of Human Genetics, 2005, v. 13, n. 9, p. 1025, doi. 10.1038/sj.ejhg.5201463
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- Article
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes.
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- Frontiers in Genetics, 2019, p. 1, doi. 10.3389/fgene.2019.00955
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- Article
The H19 endodermal enhancer is required for Igf2 activation and tumor formation in experimental liver carcinogenesis.
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- Oncogene, 2000, v. 19, n. 54, p. 6376, doi. 10.1038/sj.onc.1204024
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- Article
Expression and parental imprinting of the H19 gene in human rhabdomyosarcoma.
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- Oncogene, 1997, v. 14, n. 12, p. 1503, doi. 10.1038/sj.onc.1200956
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- Article
The Arabidopsis SUPERMAN protein is able to specifically bind DNA through its single Cys2–His2 zinc finger motif.
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- Nucleic Acids Research, 2002, v. 30, n. 22, p. 4945, doi. 10.1093/nar/gkf613
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- Article
Zfp57 inactivation illustrates the role of ICR methylation in imprinted gene expression during neural differentiation of mouse ESCs.
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- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-93297-3
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- Article
Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome.
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- Pediatric Nephrology, 2012, v. 27, n. 3, p. 397, doi. 10.1007/s00467-011-2009-4
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- Article
The number of the CTCF binding sites of the H19/IGF2:IG-DMR correlates with DNA methylation and expression imprinting in a humanized mouse model.
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- Human Molecular Genetics, 2021, v. 30, n. 16, p. 1509, doi. 10.1093/hmg/ddab132
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- Article
The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.
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- Human Molecular Genetics, 2013, v. 22, n. 3, p. 544, doi. 10.1093/hmg/dds465
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- Publication type:
- Article
The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith–Wiedemann syndrome and Silver–Russell syndrome cases.
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- Human Molecular Genetics, 2012, v. 21, n. 1, p. 10, doi. 10.1093/hmg/ddr419
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- Publication type:
- Article
Loss-of-function maternal-effect mutations of PADI6 are associated with familial and sporadic Beckwith-Wiedemann syndrome with multi-locus imprinting disturbance.
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- Clinical Epigenetics, 2020, v. 12, n. 1, p. N.PAG, doi. 10.1186/s13148-020-00925-2
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- Publication type:
- Article
The phenotypic variations of multi-locus imprinting disturbances associated with maternal-effect variants of NLRP5 range from overt imprinting disorder to apparently healthy phenotype.
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- Clinical Epigenetics, 2019, v. 11, n. 1, p. 1, doi. 10.1186/s13148-019-0760-8
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- Publication type:
- Article
Current trends and future prospects of drug repositioning in gastrointestinal oncology.
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- Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2023.1329244
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- Publication type:
- Article
Genetic and epigenetic mutations affect the DNA binding capability of human ZFP57 in transient neonatal diabetes type 1.
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- FEBS Letters, 2013, v. 587, n. 10, p. 1474, doi. 10.1016/j.febslet.2013.02.045
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- Article
Wnt/β-catenin signaling pathway safeguards epigenetic stability and homeostasis of mouse embryonic stem cells.
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- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37442-5
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- Publication type:
- Article
A novel iPSC-based model of ICF syndrome subtype 2 recapitulates the molecular phenotype of ZBTB24 deficiency.
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- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1419748
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- Publication type:
- Article
Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith–Wiedemann syndrome and Silver–Russell syndrome.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 7, p. 1363, doi. 10.1093/hmg/ddr018
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- Publication type:
- Article
Different mechanisms cause imprinting defects at the IGF2/H19 locus in Beckwith–Wiedemann syndrome and Wilms' tumour.
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- Human Molecular Genetics, 2008, v. 17, n. 10, p. 1427, doi. 10.1093/hmg/ddn031
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- Publication type:
- Article
Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour.
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- Human Molecular Genetics, 2007, v. 16, n. 3, p. 254, doi. 10.1093/hmg/ddl448
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- Publication type:
- Article
The two-domain hypothesis in Beckwith–Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 4, p. 503, doi. 10.1093/hmg/ddi047
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- Publication type:
- Article