- Home
- Publications
- Publication Search
- Publication Details
Title
Molecular Findings in Beckwith-Wiedemann Syndrome
Authors
Keywords
-
Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 163, Issue 2, Pages 131-140
Publisher
Wiley
Online
2013-04-17
DOI
10.1002/ajmg.c.31363
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Clinical presentation of 6q24 transient neonatal diabetes mellitus (6q24 TNDM) and genotype–phenotype correlation in an international cohort of patients
- (2013) L. E. Docherty et al. DIABETOLOGIA
- A novel mutation inCDKN1Cin sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases
- (2012) Piranit Nik Kantaputra et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation
- (2012) Karen Y. Niederhoffer et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Brain abnormalities in patients with Beckwith-Wiedemann syndrome
- (2012) Kate Gardiner et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Epigenetic and genetic variation at theIGF2/H19imprinting control region on 11p15.5 is associated with cerebellum weight
- (2012) Ruth Pidsley et al. Epigenetics
- IGF2 DNA methylation is a modulator of newborn’s fetal growth and development
- (2012) Julie St-Pierre et al. Epigenetics
- 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
- (2012) Jasmin Beygo et al. HUMAN MOLECULAR GENETICS
- Characterization of DNA methylation errors in patients with imprinting disorders conceived by assisted reproduction technologies
- (2012) Hitoshi Hiura et al. HUMAN REPRODUCTION
- The H19 lincRNA is a developmental reservoir of miR-675 that suppresses growth and Igf1r
- (2012) Andrew Keniry et al. NATURE CELL BIOLOGY
- Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome
- (2012) Valerie A Arboleda et al. NATURE GENETICS
- H19 Antisense RNA Can Up-Regulate Igf2 Transcription by Activation of a Novel Promoter in Mouse Myoblasts
- (2012) Van Giang Tran et al. PLoS One
- Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes
- (2011) J Demars et al. CLINICAL GENETICS
- No evidence for pathogenic variants or maternal effect of ZFP57 as the cause of Beckwith–Wiedemann Syndrome
- (2011) Susanne E Boonen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Beckwith–Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1
- (2011) Rebecca L Poole et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A novel microdeletion in the IGF2/H19 imprinting centre region defines a recurrent mutation mechanism in familial Beckwith–Wiedemann syndrome
- (2011) Agostina De Crescenzo et al. European Journal of Medical Genetics
- Maternal gametic transmission of translocations or inversions of human chromosome 11p15.5 results in regional DNA hypermethylation and downregulation of CDKN1C expression
- (2011) Adam C. Smith et al. GENOMICS
- Igf2-derived intronic miR-483 promotes mouse hepatocellular carcinoma cell proliferation
- (2011) Ning Ma et al. MOLECULAR AND CELLULAR BIOCHEMISTRY
- A nucleolar protein, H19 opposite tumor suppressor (HOTS), is a tumor growth inhibitor encoded by a human imprinted H19 antisense transcript
- (2011) P. Onyango et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Conserved, developmentally regulated mechanism couples chromosomal looping and heterochromatin barrier activity at the homeobox gene A locus
- (2011) Y. J. Kim et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Russell-Silver syndrome
- (2010) Thomas Eggermann AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Is it the patient or the IVF? Beckwith-Wiedemann syndrome in both spontaneous and assisted reproductive conceptions
- (2010) Estil Y. Strawn et al. FERTILITY AND STERILITY
- 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
- (2010) Salah Azzi et al. HUMAN MUTATION
- Screening of DNA methylation at the H19 promoter or the distal region of its ICR1 ensures efficient detection of chromosome 11p15 epimutations in Russell-Silver syndrome
- (2009) Shin-Ichi Horike et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- The long noncoding RNA Kcnq1ot1 organises a lineage-specific nuclear domain for epigenetic gene silencing
- (2009) L. Redrup et al. DEVELOPMENT
- Beckwith–Wiedemann syndrome
- (2009) Rosanna Weksberg et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Dual effects of superovulation: loss of maternal and paternal imprinted methylation in a dose-dependent manner
- (2009) Brenna A. Market-Velker et al. HUMAN MOLECULAR GENETICS
- Multilocus methylation analysis in a large cohort of 11p15-related foetal growth disorders (Russell Silver and Beckwith Wiedemann syndromes) reveals simultaneous loss of methylation at paternal and maternal imprinted loci
- (2009) Salah Azzi et al. HUMAN MOLECULAR GENETICS
- Analysis of the IGF2/H19 imprinting control region uncovers new genetic defects, including mutations of OCT-binding sequences, in patients with 11p15 fetal growth disorders
- (2009) Julie Demars et al. HUMAN MOLECULAR GENETICS
- Manifestation of alveolar rhabdomyosarcoma as primary cutaneous lesions in a neonate with Beckwith-Wiedemann syndrome
- (2009) Minoru Kuroiwa et al. JOURNAL OF PEDIATRIC SURGERY
- Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome Phenotypes Associated with 11p Duplication in a Single Family
- (2009) Laura Cardarelli et al. PEDIATRIC AND DEVELOPMENTAL PATHOLOGY
- Cohesin Is Required for Higher-Order Chromatin Conformation at the Imprinted IGF2-H19 Locus
- (2009) Raffaella Nativio et al. PLoS Genetics
- Altered gene expression and methylation of the human chromosome 11 imprinted region in small for gestational age (SGA) placentae
- (2008) Lin Guo et al. DEVELOPMENTAL BIOLOGY
- A Maternal-Zygotic Effect Gene, Zfp57, Maintains Both Maternal and Paternal Imprints
- (2008) Xiajun Li et al. DEVELOPMENTAL CELL
- Polycomb Group Proteins Ezh2 and Rnf2 Direct Genomic Contraction and Imprinted Repression in Early Mouse Embryos
- (2008) Rémi Terranova et al. DEVELOPMENTAL CELL
- Hypomethylation at multiple maternally methylated imprinted regions including PLAGL1 and GNAS loci in Beckwith–Wiedemann syndrome
- (2008) Jet Bliek et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies
- (2008) D. Lim et al. HUMAN REPRODUCTION
- A Novel H19 Antisense RNA Overexpressed in Breast Cancer Contributes to Paternal IGF2 Expression
- (2008) N. Berteaux et al. MOLECULAR AND CELLULAR BIOLOGY
- Kcnq1ot1/Lit1 Noncoding RNA Mediates Transcriptional Silencing by Targeting to the Perinucleolar Region
- (2008) F. Mohammad et al. MOLECULAR AND CELLULAR BIOLOGY
- Kcnq1ot1 Antisense Noncoding RNA Mediates Lineage-Specific Transcriptional Silencing through Chromatin-Level Regulation
- (2008) Radha Raman Pandey et al. MOLECULAR CELL
- Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia
- (2008) C.J. Marques et al. MOLECULAR HUMAN REPRODUCTION
- Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57
- (2008) Deborah J G Mackay et al. NATURE GENETICS
- Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor
- (2008) Richard H Scott et al. NATURE GENETICS
- Simultaneous occurrence of right adrenocortical tumor and left adrenal neuroblastoma in an infant with Beckwith-Wiedemann syndrome
- (2008) Abdulrahman Alsultan et al. PEDIATRIC BLOOD & CANCER
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started