(Q34546071)

2 August 2017

0 references

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome (English)

1 reference

Beckwith-Wiedemann syndrome

2 August 2017

main subject

1 reference

7

0 references

Stanislas Lyonnet

5

Stanislas Lyonnet

0 references

Valérie Cormier-Daire

9

Valérie Cormier-Daire

0 references

Martine Le Merrer

6

Martine Le Merrer

0 references

Laurence Colleaux

Laurence Colleaux

10

0 references

Damien Sanlaville

Damien Sanlaville

4

0 references

Genevieve Baujat

1

Geneviève Baujat

1 reference

2 August 2017

3

Sylvie Rossignol

1 reference

2 August 2017

8

Christine Gicquel

1 reference

2 August 2017

Marlène Rio

2

1 reference

2 August 2017

language of work or name

English

0 references

publication date

1 March 2004

1 reference

American Journal of Human Genetics

2 August 2017

published in

1 reference

2 August 2017

volume

74

1 reference

2 August 2017

issue

4

1 reference

2 August 2017

page(s)

715-720

1 reference

CEREBRAL GIGANTISM IN CHILDHOOD. A SYNDROME OF EXCESSIVELY RAPID GROWTH AND ACROMEGALIC FEATURES AND A NONPROGRESSIVE NEUROLOGIC DISORDER.

2 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181947

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181947

NSD1 is essential for early post-implantation development and has a catalytically active SET domain

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181947

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181947

Haploinsufficiency of NSD1 causes Sotos syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181947

Beckwith-Wiedemann syndrome: imprinting in clusters revisited

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181947

Two distinct nuclear receptor interaction domains in NSD1, a novel SET protein that exhibits characteristics of both corepressors and coactivators

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181947

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181947

Sotos syndrome: a study of the diagnostic criteria and natural history

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181947

The product of the H19 gene may function as an RNA

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181947

Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181947

Genomic imprinting. Silence across the border.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1181947

27 October 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/14997421

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular genetics of Wiedemann-Beckwith syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/14997421

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/383093

1 reference

2 August 2017

1 reference

2 August 2017

1 reference