(Q57199293)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

title

Multiple congenital anomalies-intellectual disability (MCA-ID) and neuroblastoma in a patient harboring a de novo 14q23.1q23.3 deletion (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Anne Guimier

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Serge Romana

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Laurence Colleaux

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Loic de Pontual

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Stanislas Lyonnet

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Jeanne Amiel

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

6

Louise Galmiche

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

1

Daphné Lehalle

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

author name string

Emmanuel Plouvier

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Thierry Leblanc

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

Isabelle Radford

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

language of work or name

English

0 references

publication date

24 March 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Medical Genetics

12 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

volume

164A

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

page(s)

1310-1317

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

A new familial cancer syndrome including predisposition to Wilms tumor and neuroblastoma

12 March 2020

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Sequence signatures and the probabilistic identification of proteins in the Myc-Max-Mad network

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Myc and Max: molecular evolution of a family of proto-oncogene products and their dimerization partner

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Epigenetic inactivation of the Sotos overgrowth syndrome gene histone methyltransferase NSD1 in human neuroblastoma and glioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Mechanisms in the pathogenesis of malignant tumours in neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Molecular basis of red cell membrane disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Copy number variation at 1q21.1 associated with neuroblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

A de novo 1.5 Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

The MAX-interacting transcription factor network

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Somatic and germline activating mutations of the ALK kinase receptor in neuroblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

De novo and complex imbalanced chromosomal rearrangements revealed by array CGH in a patient with an abnormal phenotype and apparently "balanced" paracentric inversion of 14(q21q23).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Familial neuroblastoma. Case reports, literature review, and etiologic considerations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Mutations in ARHGEF6, encoding a guanine nucleotide exchange factor for Rho GTPases, in patients with X-linked mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Histone deacetylases associated with the mSin3 corepressor mediate mad transcriptional repression

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

A 2.1 Mb deletion adjacent but distal to a 14q21q23 paracentric inversion in a family with spherocytosis and severe learning difficulties.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

High incidence of malformation syndromes in a series of 1,073 children with cancer.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Sequencing of neuroblastoma identifies chromothripsis and defects in neuritogenesis genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Identification of ALK as a major familial neuroblastoma predisposition gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

X-ray structures of Myc-Max and Mad-Max recognizing DNA. Molecular bases of regulation by proto-oncogenic transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Genomics and proteomics approaches to the study of cancer-stroma interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Profilin is an effector for Daam1 in non-canonical Wnt signaling and is required for vertebrate gastrulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Integrated genomic analyses identify ARID1A and ARID1B alterations in the childhood cancer neuroblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

The kinesin KIF1Bbeta acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Cyclin-dependent kinase-mediated phosphorylation of RBP1 and pRb promotes their dissociation to mediate release of the SAP30·mSin3·HDAC transcriptional repressor complex.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Loss of AKAP150 perturbs distinct neuronal processes in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

Identification of chromatin remodeling genes Arid4a and Arid4b as leukemia suppressor genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

c-Myc Does Not Require Max for Transcriptional Activity in PC-12 Cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.36452

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36452

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24665034%20AND%20SRC:MED&resulttype=core&format=json

12 March 2020

1 reference