(Q34328586)

1 August 2017

title

Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth (English)

1 reference

1 August 2017

10

0 references

Valérie Cormier-Daire

13

Nicole Morichon-Delvallez

Valérie Cormier-Daire

0 references

8

Nicole Morichon-Delvallez

0 references

Valérie Malan

Valérie Malan

1

0 references

Serge Romana

Serge Romana

11

0 references

Laurence Colleaux

Laurence Colleaux

14

0 references

Didier Lacombe

Didier Lacombe

5

0 references

Laurent Pasquier

6

Laurent Pasquier

1 reference

1 August 2017

12

Michel Vekemans

1 reference

1 August 2017

Suzanne Chevallier

2

1 reference

1 August 2017

Gwendoline Soler

3

1 reference

1 August 2017

Christine Coubes

4

1 reference

1 August 2017

Jean Soulier

7

1 reference

1 August 2017

Nicole Morichon-Delvallez

8

1 reference

1 August 2017

Catherine Turleau

9

1 reference

1 August 2017

publication date

21 October 2009

1 reference

European Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

18

1 reference

1 August 2017

issue

2

1 reference

1 August 2017

page(s)

227-232

1 reference

Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy

1 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=2987201

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6 July 2018

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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987201

Genotype-phenotype correlations in MYCN-related Feingold syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987201

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987201

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987201

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987201

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987201

PTEN: one gene, many syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987201

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987201

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987201

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987201

Haploinsufficiency of NSD1 causes Sotos syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987201

6 July 2018

22q13 deletion syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987201

Marshall-Smith syndrome: the expanding phenotype

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987201

Translocations involving 4p16.3 in three families: deletion causing the Pitt-Rogers-Danks syndrome and duplication resulting in a new overgrowth syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987201

Viral proteins E1B19K and p35 protect sympathetic neurons from cell death induced by NGF deprivation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987201

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987201

15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.162

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.162

Clinical and molecular overlap in overgrowth syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.162

Macrocephaly-cutis marmorata telangiectatica congenita: report of six new patients and a review.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.162

Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.162

Drosophila myc regulates organ size by inducing cell competition

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.162

dMyc transforms cells into super-competitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.162

Novel PTEN mutations in neurodevelopmental disorders and macrocephaly.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.162

In situ hybridization to interphase nuclei in acute leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.162

Clinical and molecular aspects of the Simpson-Golabi-Behmel syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19844265

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.162

1 reference

1 August 2017

1 reference

1 August 2017

1 reference