| scholarly article | Q13442814 |
| P356 | DOI | 10.1038/SJ.EJHG.5201463 |
| P2888 | exact match | https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201463 |
| P698 | PubMed publication ID | 15999116 |
| P50 | author | Wolf Reik | Q15994704 |
| Jet Bliek | Q42354507 | ||
| Andrea Riccio | Q43162425 | ||
| Eamonn R Maher | Q56435841 | ||
| P2093 | author name string | Paul N Schofield | |
| Richard Grundy | |||
| Gianfranco Sebastio | |||
| Fiona Macdonald | |||
| Wendy N Cooper | |||
| Hussain Raza | |||
| Sarah C Bowdin | |||
| Anita Luharia | |||
| Antonita C Haire | |||
| Gail A Evans | |||
| P2860 | cites work | LIT1 and H19 methylation defects in isolated hemihyperplasia | Q81272560 |
| Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects | Q24632842 | ||
| A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome | Q24644175 | ||
| Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome | Q24678326 | ||
| Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting | Q24684284 | ||
| Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene | Q28145754 | ||
| CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus | Q28145756 | ||
| An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome | Q28292249 | ||
| Sex dependent transmission of Beckwith-Wiedemann syndrome associated with a reciprocal translocation t(9;11)(p11.2;p15.5). | Q33596012 | ||
| Mosaic uniparental disomy in Beckwith-Wiedemann syndrome. | Q33675226 | ||
| Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome | Q33678779 | ||
| Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome | Q33679562 | ||
| Beckwith-Wiedemann syndrome: imprinting in clusters revisited | Q33838090 | ||
| Screening for Wilms tumor in children with Beckwith-Wiedemann syndrome or idiopathic hemihypertrophy | Q33854177 | ||
| Microdeletion of LIT1 in familial Beckwith-Wiedemann syndrome | Q33910416 | ||
| Epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome | Q33927299 | ||
| Uniparental paternal disomy in a genetic cancer-predisposing syndrome | Q34535432 | ||
| Low frequency of p57KIP2 mutation in Beckwith-Wiedemann syndrome | Q35249196 | ||
| Paternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome. A new case and review of the literature | Q36731805 | ||
| Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. | Q40761872 | ||
| Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome. | Q41066237 | ||
| Methylation associated inactivation of RASSF1A from region 3p21.3 in lung, breast and ovarian tumours. | Q43583310 | ||
| Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome | Q48177276 | ||
| Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases. | Q52093151 | ||
| Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome. | Q52133092 | ||
| Antisense WT1 transcription parallels sense mRNA and protein expression in fetal kidney and can elevate protein levels in vitro. | Q52182053 | ||
| Ablation of the CDK inhibitor p57Kip2 results in increased apoptosis and delayed differentiation during mouse development. | Q52195138 | ||
| Allelic methylation of H19 and IGF2 in the Beckwith-Wiedemann syndrome. | Q52215312 | ||
| Genomic imprinting at the WT1 gene involves a novel coding transcript (AWT1) that shows deregulation in Wilms' tumours. | Q52957891 | ||
| Altered cell differentiation and proliferation in mice lacking p57KIP2 indicates a role in Beckwith–Wiedemann syndrome | Q58236969 | ||
| Synthesis of microporous transition-metal-oxide molecular sieves by a supramolecular templating mechanism | Q59060757 | ||
| Relaxation of insulin-like growth factor II gene imprinting implicated in Wilms' tumour | Q59088779 | ||
| Screening for wilms' tumour in patients with aniridia, Beckwith syndrome, or hemihypertrophy | Q60725272 | ||
| Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation | Q62750263 | ||
| Molecular analysis of patients with Wiedemann-Beckwith syndrome. II. Paternally derived disomies of chromosome 11 | Q67521534 | ||
| Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5) | Q68163527 | ||
| Epigenetic lesions at the H19 locus in Wilms' tumour patients | Q72703033 | ||
| Beckwith-Wiedemann syndrome | Q72819474 | ||
| Increased tumour risk for BWS patients correlates with aberrant H19 and not KCNQ1OT1 methylation: occurrence of KCNQ1OT1 hypomethylation in familial cases of BWS | Q73446628 | ||
| Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11 | Q77435977 | ||
| Regulation of the Wilms' tumour suppressor (WT1) gene by an antisense RNA: a link with genomic imprinting? | Q77600644 | ||
| P433 | issue | 9 | |
| P304 | page(s) | 1025-1032 | |
| P577 | publication date | 2005-07-06 | |
| P1433 | published in | European Journal of Human Genetics | Q2155433 |
| P1476 | title | Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome | |
| P478 | volume | 13 |
| Q36475061 | (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome |
| Q38542163 | (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: a paradigm for genomic medicine. |
| Q34285755 | A genomic imprinting defect in mice traced to a single gene |
| Q34699309 | A survey of assisted reproductive technology births and imprinting disorders. |
| Q43837126 | Aberrant DNA methylation of imprinted loci in human spontaneous abortions after assisted reproduction techniques and natural conception |
| Q40725634 | Abnormal Methylation of Imprinted Genes and Cigarette Smoking: Assessment of Their Association With the Risk of Male Infertility |
| Q34084829 | Addition of H19 'loss of methylation testing' for Beckwith-Wiedemann syndrome (BWS) increases the diagnostic yield. |
| Q83328365 | Allele-specific methylated multiplex real-time quantitative PCR (ASMM RTQ-PCR), a powerful method for diagnosing loss of imprinting of the 11p15 region in Russell Silver and Beckwith Wiedemann syndromes |
| Q34981288 | Altered DNA methylation patterns of the H19 differentially methylated region and the DAZL gene promoter are associated with defective human sperm |
| Q92393330 | Altered microRNA expression profiles in large offspring syndrome and Beckwith-Wiedemann syndrome |
| Q84116019 | Beckwith-Wiedemann syndrome |
| Q42700316 | Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques |
| Q53811812 | Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation. |
| Q84966064 | Beckwith–Wiedemann syndrome |
| Q53114374 | Bilateral pheochromocytomas, hemihyperplasia, and subtle somatic mosaicism: the importance of detecting low-level uniparental disomy. |
| Q54511058 | Brain abnormalities in patients with Beckwith-Wiedemann syndrome. |
| Q95832243 | Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study |
| Q51528063 | Characterization of differentially methylated regions in 3 bovine imprinted genes: a model for studying human germ-cell and embryo development. |
| Q30466805 | Child health, developmental plasticity, and epigenetic programming |
| Q37004747 | Chromosome 11 segmental paternal isodisomy in amniocytes from two fetuses with omphalocoele: new highlights on phenotype-genotype correlations in Beckwith-Wiedemann syndrome. |
| Q53100680 | Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. |
| Q37585831 | Clinical utility gene card for: Beckwith-Wiedemann Syndrome. |
| Q33844479 | Colloquium papers: Transfers and transitions: parent-offspring conflict, genomic imprinting, and the evolution of human life history |
| Q37992686 | Commonest overgrowth syndromes |
| Q35184953 | Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care |
| Q43740895 | Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor. |
| Q44025824 | Constitutional epimutation as a mechanism for cancer causality and heritability? |
| Q50422488 | DNA Methylation Dynamics of Genomic Imprinting in Mouse Development. |
| Q47597020 | DNA methylation and expression of imprinted genes are associated with the viability of different sexual cloned buffaloes. |
| Q47103314 | De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome |
| Q58711800 | Detecting differentially expressed genes for syndromes by considering change in mean and dispersion simultaneously |
| Q89623078 | Diagnosis and Management of Beckwith-Wiedemann Syndrome |
| Q34975714 | Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia |
| Q34182374 | Differences and similarities in the transcriptional profile of peripheral whole blood in early and late-onset preeclampsia: insights into the molecular basis of the phenotype of preeclampsiaa |
| Q33325473 | Distinct methylation changes at the IGF2-H19 locus in congenital growth disorders and cancer. |
| Q37302876 | Dominant versus recessive: molecular mechanisms in metabolic disease |
| Q81235455 | Duplication of paternal IGF2 or loss of maternal IGF2 imprinting occurs in half of Wilms tumors with various structural WT1 abnormalities |
| Q34915251 | Educational paper: screening in cancer predisposition syndromes: guidelines for the general pediatrician |
| Q91736107 | Embryonal precursors of Wilms tumor |
| Q36043390 | Epigenetic Dysregulation Observed in Monosomy Blastocysts Further Compromises Developmental Potential |
| Q37965878 | Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes. |
| Q33599586 | Epigenetic characterization of the growth hormone gene identifies SmcHD1 as a regulator of autosomal gene clusters |
| Q37961876 | Epigenetic discordance at imprinting control regions in twins |
| Q41593402 | Epigenetic dynamics and interplay during spermatogenesis and embryogenesis: implications for male fertility and offspring health |
| Q55113211 | Epigenetics and Human Disease. |
| Q48048199 | Epigenotype, genotype, and phenotype analysis of patients in Taiwan with Beckwith-Wiedemann syndrome |
| Q22255392 | Epimutation and cancer: a new carcinogenic mechanism of Lynch syndrome (Review) |
| Q58224409 | Epimutation of the TNDM locus and the Beckwith–Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitus |
| Q48510862 | Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement |
| Q36499262 | Expression of KCNQ1OT1, CDKN1C, H19, and PLAGL1 and the methylation patterns at the KvDMR1 and H19/IGF2 imprinting control regions is conserved between human and bovine |
| Q40013334 | Fetal growth patterns in Beckwith-Wiedemann syndrome. |
| Q28505485 | Fetal overgrowth in the Cdkn1c mouse model of Beckwith-Wiedemann syndrome |
| Q38287045 | Focusing on long noncoding RNA dysregulation in gastric cancer |
| Q52721971 | Genetic and Epigenetic Control of CDKN1C Expression: Importance in Cell Commitment and Differentiation, Tissue Homeostasis and Human Diseases. |
| Q28252301 | Genetic considerations in the prenatal diagnosis of overgrowth syndromes |
| Q36056485 | Genome-wide methylation analysis in Silver-Russell syndrome patients |
| Q45209788 | Genomic profiles of a hepatoblastoma from a patient with Beckwith-Wiedemann syndrome with uniparental disomy on chromosome 11p15 and germline mutation of APC and PALB2. |
| Q33419813 | Germline mutation in NLRP2 (NALP2) in a familial imprinting disorder (Beckwith-Wiedemann Syndrome). |
| Q36783143 | Growth regulation, imprinted genes, and chromosome 11p15.5. |
| Q36784319 | Hereditary urological cancer syndromes |
| Q54401181 | High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome. |
| Q37962006 | Human imprinting syndromes. |
| Q34326159 | Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith-Wiedemann syndrome. |
| Q47616676 | Identification of Clinical and Biologic Correlates Associated With Outcome in Children With Adrenocortical Tumors Without Germline TP53 Mutations: A St Jude Adrenocortical Tumor Registry and Children's Oncology Group Study. |
| Q45957876 | Imprinting Status of IGF2 in Cord Blood Cells of Han Chinese Newborns. |
| Q34658061 | Imprinting at the SMPD1 locus: implications for acid sphingomyelinase-deficient Niemann-Pick disease |
| Q26995324 | Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci |
| Q34905606 | Inflammasomes and their activation. |
| Q34328129 | Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells |
| Q80533215 | 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 |
| Q37573814 | Maternal Hypomethylation of KvDMR in a Monozygotic Male Twin Pair Discordant for Beckwith-Wiedemann Syndrome. |
| Q36371745 | Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression |
| Q33935363 | Maternal mRNA expression levels of H19 are inversely associated with risk of macrosomia |
| Q37479026 | Methylation Status of H19/IGF2 Differentially Methylated Region in in vitro Human Blastocysts Donated by Healthy Couples. |
| Q33780868 | Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects |
| Q79872546 | Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome |
| Q38099605 | Molecular findings in Beckwith-Wiedemann syndrome |
| Q38315593 | Multilocus methylation defects in imprinting disorders. |
| Q37993928 | Myogenic tumors in children and adolescents |
| Q61656965 | Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome |
| Q37947955 | Nephrological findings and genotype-phenotype correlation in Beckwith-Wiedemann syndrome. |
| Q52614057 | New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects. |
| Q36267711 | Nik-related kinase regulates trophoblast proliferation and placental development by modulating AKT phosphorylation |
| Q47998327 | Novel deletion in 11p15.5 imprinting center region 1 in a patient with Beckwith-Wiedemann syndrome provides insight into distal enhancer regulation and tumorigenesis |
| Q52867468 | PLAGL1 epimutation and bladder exstrophy: Coincidence or concurrent etiology? |
| Q36556404 | Partial KCNQ1OT1 hypomethylation: A disguised familial Beckwith-Wiedemann syndrome as a sporadic adrenocortical tumor. |
| Q33815395 | Phenotype ontologies for mouse and man: bridging the semantic gap. |
| Q57654052 | Prevalence of beckwith-wiedemann syndrome in North West of Italy |
| Q93194459 | Pseudoacromegaly |
| Q47844861 | Quantitative methylation analysis of developmentally important genes in human pregnancy losses after ART and spontaneous conception. |
| Q42502272 | Rhabdomyosarcoma, Wilms tumor, and deletion of the patched gene in Gorlin syndrome |
| Q39172425 | Role of DNA methylation in imprinting disorders: an updated review |
| Q82162938 | Say what we mean, mean what we say |
| Q42672527 | Sequence variants identification at the KCNQ1OT1:TSS differentially Methylated region in isolated omphalocele cases |
| Q28079403 | Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome: Opposite Phenotypes with Heterogeneous Molecular Etiology |
| Q36835706 | Somatically acquired hypomethylation of IGF2 in breast and colorectal cancer |
| Q33959408 | Spatial, temporal and interindividual epigenetic variation of functionally important DNA methylation patterns. |
| Q34212454 | Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia |
| Q36475859 | Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour |
| Q36885699 | Syndromes and disorders associated with omphalocele (I): Beckwith-Wiedemann syndrome |
| Q28508794 | The H19 locus acts in vivo as a tumor suppressor |
| Q35605181 | The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases |
| Q37004473 | The centromeric 11p15 imprinting centre is also involved in Silver-Russell syndrome |
| Q90472602 | The effectiveness of Wilms tumor screening in Beckwith-Wiedemann spectrum |
| Q91297749 | The genetic changes of Wilms tumour |
| Q28077234 | The genetic heterogeneity of colorectal cancer predisposition - guidelines for gene discovery |
| Q33628787 | The importance of imprinting in the human placenta. |
| Q55029198 | The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome. |
| Q48182075 | Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives |
| Q55035298 | Tumor screening in Beckwith-Wiedemann syndrome-To screen or not to screen? |
| Q79716954 | Wilms tumor and constitutional epigenetic defects |
Search more.