(Q89623078)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32039119%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

review article

1 reference

title

Diagnosis and Management of Beckwith-Wiedemann Syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32039119%20AND%20SRC:MED&resulttype=core&format=json

Beckwith-Wiedemann syndrome

7 April 2020

main subject

1 reference

Kathleen H Wang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32039119%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Jonida Kupa

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32039119%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Kelly A Duffy

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32039119%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Jennifer M Kalish

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32039119%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

publication date

1 January 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32039119%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

published in

Frontiers in pediatrics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32039119%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

volume

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32039119%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

page(s)

562

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32039119%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

7 April 2020

copyright license

start time

21 January 2020

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

The human ASM (adult skeletal muscle) gene: expression and chromosomal assignment to 11p15

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12 December 2020

Plasma alpha fetoprotein reference ranges in infancy: effect of prematurity

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12 December 2020

Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization

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12 December 2020

Wiedemann-Beckwith syndrome: presentation of clinical and cytogenetic data on 22 new cases and review of the literature

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12 December 2020

Establishment of functional imprinting of the H19 gene in human developing placentae

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12 December 2020

Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases

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12 December 2020

Some causes of genotypic and phenotypic discordance in monozygotic twin pairs

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12 December 2020

Embryologic development and monozygotic twinning.

1 reference

12 December 2020

Alpha 1-fetoprotein (AFP) reference values in infants up to 2 years of age.

1 reference

12 December 2020

Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation

1 reference

12 December 2020

Characteristics and outcome of children with Beckwith-Wiedemann syndrome and Wilms' tumor: a report from the National Wilms Tumor Study Group

1 reference

12 December 2020

CTCF mediates methylation-sensitive enhancer-blocking activity at the H19/Igf2 locus

1 reference

12 December 2020

Serum alpha-fetoprotein levels in Beckwith-Wiedemann syndrome.

1 reference

12 December 2020

Deletion of a silencer element disrupts H19 imprinting independently of a DNA methylation epigenetic switch.

1 reference

12 December 2020

Deletion of a silencer element in Igf2 results in loss of imprinting independent of H19.

1 reference

12 December 2020

Screening for Wilms tumor and hepatoblastoma in children with Beckwith-Wiedemann syndromes: a cost-effective model

1 reference

12 December 2020

Molecular cytogenetics

1 reference

12 December 2020

Intracytoplasmic sperm injection may increase the risk of imprinting defects

1 reference

12 December 2020

Discordant KCNQ1OT1 imprinting in sets of monozygotic twins discordant for Beckwith-Wiedemann syndrome

1 reference

12 December 2020

The 5' end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome.

1 reference

12 December 2020

Renal abnormalities in beckwith-wiedemann syndrome are associated with 11p15.5 uniparental disomy.

1 reference

12 December 2020

Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19

1 reference

12 December 2020

A differentially methylated region within the gene Kcnq1 functions as an imprinted promoter and silencer.

1 reference

12 December 2020

Hypercalciuria in Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia

1 reference

12 December 2020

Beckwith-Wiedemann syndrome and IVF: a case-control study

1 reference

12 December 2020

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.

1 reference

12 December 2020

Microarray-based comparative genomic hybridization and its applications in human genetics

1 reference

12 December 2020

Molecular subtypes and phenotypic expression of Beckwith–Wiedemann syndrome

1 reference

12 December 2020

Inheritance pattern of Beckwith-Wiedemann syndrome is heterogeneous in 291 families with an affected proband.

1 reference

12 December 2020

Imprinting of IGF2 P0 transcript and novel alternatively spliced INS-IGF2 isoforms show differences between mouse and human.

1 reference

12 December 2020

Molecular diagnosis of Beckwith-Wiedemann syndrome using quantitative methylation-sensitive polymerase chain reaction.

1 reference

12 December 2020

Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms' tumour

1 reference

12 December 2020

Mitotic recombination and uniparental disomy in Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Bilateral disease and new trends in Wilms tumour

1 reference

12 December 2020

The clinical phenotype of mosaicism for genome-wide paternal uniparental disomy: two new reports

1 reference

12 December 2020

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

1 reference

12 December 2020

Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) robustly detects and distinguishes 11p15 abnormalities associated with overgrowth and growth retardation

1 reference

12 December 2020

Beckwith Weidemann syndrome: a behavioral phenotype-genotype study.

1 reference

12 December 2020

Rapid detection of methylation change at H19 in human imprinting disorders using methylation-sensitive high-resolution melting

1 reference

12 December 2020

Beckwith-Wiedemann syndrome in adults: observations from one family and recommendations for care

1 reference

12 December 2020

Epigenotype, phenotype, and tumors in patients with isolated hemihyperplasia.

1 reference

12 December 2020

The H19 locus acts in vivo as a tumor suppressor

1 reference

12 December 2020

Lessons from BWS twins: complex maternal and paternal hypomethylation and a common source of haematopoietic stem cells

1 reference

12 December 2020

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

1 reference

12 December 2020

Imprinting and epigenetic changes in the early embryo

1 reference

12 December 2020

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

1 reference

12 December 2020

Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis

1 reference

12 December 2020

From the archives of the AFIP: Pediatric liver masses: radiologic-pathologic correlation part 1. Benign tumors

1 reference

12 December 2020

Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Surgical epiphysiodesis indications and techniques: update

1 reference

12 December 2020

Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques

1 reference

12 December 2020

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

1 reference

12 December 2020

From the archives of the AFIP: Pediatric liver masses: radiologic-pathologic correlation. Part 2. Malignant tumors

1 reference

12 December 2020

Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith–Wiedemann syndrome

1 reference

12 December 2020

New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects.

1 reference

12 December 2020

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

1 reference

12 December 2020

Psychosocial, Feeding, and Drooling Outcomes in Children with Beckwith Wiedemann Syndrome following Tongue Reduction Surgery

1 reference

12 December 2020

The KCNQ1OT1 imprinting control region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases

1 reference

12 December 2020

Surgical treatment of macroglossia in patients with Beckwith-Wiedemann syndrome: a 20-year experience and review of the literature

1 reference

12 December 2020

Wilms tumor: recent advances in clinical care and biology

1 reference

12 December 2020

Brain abnormalities in patients with Beckwith-Wiedemann syndrome.

1 reference

12 December 2020

Elevated maternal serum α-fetoprotein level in a fetus with Beckwith-Wiedemann syndrome in the second trimester of pregnancy.

1 reference

12 December 2020

The Kcnq1ot1 long non-coding RNA affects chromatin conformation and expression of Kcnq1, but does not regulate its imprinting in the developing heart

1 reference

12 December 2020

Beckwith-Wiedemann syndrome and long QT syndrome due to familial-balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene

1 reference

12 December 2020

Comparison of chromosome analysis and chromosomal microarray analysis: what is the value of chromosome analysis in today's genomic array era?

1 reference

12 December 2020

Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues.

1 reference

12 December 2020

Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental function and embryonic growth

1 reference

12 December 2020

Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p.

1 reference

12 December 2020

Molecular findings in Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Predictors of survival and incidence of hepatoblastoma in the paediatric population

1 reference

12 December 2020

Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy.

1 reference

12 December 2020

Clinical utility gene card for: Beckwith-Wiedemann Syndrome.

1 reference

12 December 2020

SNP arrays in Beckwith-Wiedemann syndrome: an improved diagnostic strategy.

1 reference

12 December 2020

High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome.

1 reference

12 December 2020

Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation.

1 reference

12 December 2020

Hepatoblastoma state of the art: pathology, genetics, risk stratification, and chemotherapy

1 reference

12 December 2020

Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance

1 reference

12 December 2020

Methylation analysis in tongue tissue of BWS patients identifies the (EPI)genetic cause in 3 patients with normal methylation levels in blood

1 reference

12 December 2020

The advantages of SNP arrays over CGH arrays

1 reference

12 December 2020

Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects

1 reference

12 December 2020

Epigenetics and imprinting in human disease

1 reference

12 December 2020

Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome

1 reference

12 December 2020

(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Beckwith-Wiedemann syndrome prenatal diagnosis by methylation analysis in chorionic villi

1 reference

12 December 2020

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

1 reference

12 December 2020

Rapid Diagnosis of Imprinting Disorders Involving Copy Number Variation and Uniparental Disomy Using Genome-Wide SNP Microarrays

1 reference

12 December 2020

Screening Hepatoblastoma in Beckwith-Wiedemann Syndrome: A Complex Issue.

1 reference

12 December 2020

Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

1 reference

12 December 2020

Congenital hyperinsulinism in children with paternal 11p uniparental isodisomy and Beckwith-Wiedemann syndrome.

1 reference

12 December 2020

Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome

1 reference

12 December 2020

Fetal growth patterns in Beckwith-Wiedemann syndrome.

1 reference

12 December 2020

A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes

1 reference

12 December 2020

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

1 reference

12 December 2020

Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol

1 reference

12 December 2020

Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups

1 reference

12 December 2020

The utility of alpha-fetoprotein screening in Beckwith-Wiedemann syndrome.

1 reference

12 December 2020

Obstructive sleep apnoea and the role of tongue reduction surgery in children with Beckwith-Wiedemann syndrome.

1 reference

12 December 2020

Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome.

1 reference

12 December 2020

Retinoblastoma and Neuroblastoma Predisposition and Surveillance

1 reference

12 December 2020

Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma

1 reference

12 December 2020

Tumor Screening in Beckwith-Wiedemann Syndrome: Parental Perspectives.

1 reference

12 December 2020

Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.

1 reference

12 December 2020

Longitudinal Monitoring of Alpha-Fetoprotein by Dried Blood Spot for Hepatoblastoma Screening in Beckwith⁻Wiedemann Syndrome

1 reference

12 December 2020

Diagnosis and management of the phenotypic spectrum of twins with Beckwith-Wiedemann syndrome

1 reference

12 December 2020

Development of the Serum α-Fetoprotein Reference Range in Patients with Beckwith-Wiedemann Spectrum

1 reference

12 December 2020

Characterization of the Beckwith-Wiedemann spectrum: Diagnosis and management

1 reference

12 December 2020

Identifiers

DOI

10.3389/FPED.2019.00562

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32039119%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:32039119%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

1 reference