(Q43172125)

English

Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region

scientific article published in August 2006

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scholarly article

1 reference

Europe PubMed Central

15 November 2017

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Molecular and genomic characterisation of cryptic chromosomal alterations leading to paternal duplication of the 11p15.5 Beckwith-Wiedemann region (English)

1 reference

Europe PubMed Central

15 November 2017

object named as

M Agosti

8

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object named as

P Finelli

2

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author name string

S Russo

1

1 reference

Europe PubMed Central

15 November 2017

M P Recalcati

3

1 reference

Europe PubMed Central

15 November 2017

S Ferraiuolo

4

1 reference

Europe PubMed Central

15 November 2017

F Cogliati

5

1 reference

Europe PubMed Central

15 November 2017

B Dalla Bernardina

6

1 reference

Europe PubMed Central

15 November 2017

M G Tibiletti

7

1 reference

Europe PubMed Central

15 November 2017

M Sala

9

1 reference

Europe PubMed Central

15 November 2017

M T Bonati

10

1 reference

Europe PubMed Central

15 November 2017

L Larizza

11

1 reference

Europe PubMed Central

15 November 2017

language of work or name

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publication date

1 August 2006

1 reference

Europe PubMed Central

15 November 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

15 November 2017

43

1 reference

Europe PubMed Central

15 November 2017

e39

1 reference

Europe PubMed Central

15 November 2017

8

1 reference

Europe PubMed Central

15 November 2017

Fine-scale structural variation of the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

The olfactory receptor universe--from whole genome analysis to structure and evolution.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

Detection of large-scale variation in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

Genomic imprinting: CTCF protects the boundaries

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

The human olfactory receptor gene family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

Genome architecture catalyzes nonrecurrent chromosomal rearrangements

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

Wiedemann-Beckwith syndrome: further prenatal characterization of the condition

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

Segmental duplications: an 'expanding' role in genomic instability and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

The complete human olfactory subgenome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

Methylation of a CTCF-dependent boundary controls imprinted expression of the Igf2 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

Characterization of the breakpoints in unbalanced t(5;11)(p15;p15) constitutional chromosome translocations in two patients with beckwith-wiedemann syndrome using fluorescence in situ hybridisation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

Paternally inherited duplications of 11p15.5 and Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

An imprinted gene p57KIP2 is mutated in Beckwith-Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

Familial Wolf-Hirschhorn syndrome resulting from a cryptic translocation: a clinical and molecular study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

High-resolution mapping of human chromosome 11 by in situ hybridization with cosmid clones

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

Paternal origin of 11p15 duplications in the Beckwith-Wiedemann syndrome. A new case and review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

25 May 2018

Epimutation of the telomeric imprinting center region on chromosome 11p15 in Silver-Russell syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

15 August 2018

FISH characterisation of an identical (16)(p11.2p12.2) tandem duplication in two unrelated patients with autistic behaviour.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

15 August 2018

An association between variants in the IGF2 gene and Beckwith-Wiedemann syndrome: interaction between genotype and epigenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

15 August 2018

A fluorescent method for detecting low-grade 11patUPD mosaicism in Beckwith–Wiedemann syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

15 August 2018

Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

15 August 2018

Mouse/human sequence divergence in a region with a paternal-specific methylation imprint at the human H19 locus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

15 August 2018

Longitudinal observations on 15 children with Wiedemann-Beckwith syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

15 August 2018

The two-domain hypothesis in Beckwith–Wiedemann syndrome: autonomous imprinting of the telomeric domain of the distal chromosome 7 cluster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2649021

1 December 2018

Duplications of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation

1 reference

https://pubmed.ncbi.nlm.nih.gov/16882733

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Seven cases of Wiedmann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11

1 reference

https://pubmed.ncbi.nlm.nih.gov/16882733

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of Wiedemann-Beckwith syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16882733

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomic disorders: structural features of the genome can lead to DNA rearrangements and human disease traits

1 reference

https://pubmed.ncbi.nlm.nih.gov/16882733

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beckwith-Wiedemann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16882733

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beckwith-Wiedemann syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/16882733

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/16882733

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.2005.038398

1 reference

Europe PubMed Central

15 November 2017

1 reference

Europe PubMed Central

15 November 2017

1 reference

Europe PubMed Central

15 November 2017

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