(Q35768388)

10 August 2017

title

ALK germline mutations in patients with neuroblastoma: a rare and weakly penetrant syndrome (English)

1 reference

10 August 2017

1 reference

Marion Gauthier-Villars

18

Isabelle Janoueix-Lerosey

Marion Gauthier-Villars

0 references

19

Dominique Valteau-Couanet

Isabelle Janoueix-Lerosey

0 references

10

Dominique Valteau-Couanet

0 references

Valérie Combaret

8

Valérie Combaret

0 references

Anne-Sophie Defachelles

14

Anne-Sophie Defachelles

0 references

Olivier Delattre

Olivier Delattre

20

0 references

Franck Bourdeaut

1

Franck Bourdeaut

1 reference

10 August 2017

Gudrun Schleiermacher

16

Gudrun Schleiermacher

1 reference

10 August 2017

15

Michel Peuchmaur

1 reference

10 August 2017

9

Jean Michon

1 reference

10 August 2017

17

Gaëlle Pierron

1 reference

10 August 2017

2

Sandrine Ferrand

1 reference

10 August 2017

12

Xavier Rialland

1 reference

10 August 2017

5

Agnès Ribeiro

1 reference

10 August 2017

3

Laurence Brugières

1 reference

10 August 2017

11

Bertrand Isidor

1 reference

10 August 2017

Marjorie Hilbert

4

1 reference

10 August 2017

Ludovic Lacroix

6

1 reference

10 August 2017

Jean Bénard

7

1 reference

10 August 2017

Maryline Poirée

13

1 reference

10 August 2017

Comité Neuroblastome of the Société Francaise de Cancérologie

21

1 reference

10 August 2017

publication date

9 November 2011

1 reference

European Journal of Human Genetics

10 August 2017

published in

1 reference

10 August 2017

volume

20

1 reference

10 August 2017

issue

3

1 reference

10 August 2017

page(s)

291-297

1 reference

Anaplastic thyroid cancers harbor novel oncogenic mutations of the ALK gene

10 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=3283184

Genomic Imprinting Syndromes and Cancer

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283184

Meta-analysis of neuroblastomas reveals a skewed ALK mutation spectrum in tumors with MYCN amplification

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283184

Medulloblastoma variants: age-dependent occurrence and relation to Gorlin syndrome--a new clinical perspective

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283184

Activating mutations in ALK provide a therapeutic target in neuroblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283184

Oncogenic mutations of ALK kinase in neuroblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283184

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283184

Identification of ALK as a major familial neuroblastoma predisposition gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283184

The Phox2B homeobox gene is mutated in sporadic neuroblastomas

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283184

PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283184

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283184

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283184

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283184

Rhabdomyosarcoma in children: epidemiologic study and identification of a familial cancer syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283184

Mutation and cancer: statistical study of retinoblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283184

Mutation and cancer: neuroblastoma and pheochromocytoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283184

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283184

Hirschsprung's disease, Ondine's curse, and neuroblastoma--manifestations of neurocristopathy

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283184

Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor.

12 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.195

Unilateral retinoblastoma, lack of familial history and older age does not exclude germline RB1 gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.195

Germline PHOX2B mutation in hereditary neuroblastoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.195

Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.195

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.195

Prevalence and functional consequence of PHOX2B mutations in neuroblastoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.195

Germline gain-of-function mutations of ALK disrupt central nervous system development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.195

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.195

Familial predisposition to neuroblastoma does not map to chromosome band 1p36

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22071890

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Molecular genetic analysis of familial neuroblastoma

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22071890

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

High incidence of DNA mutations and gene amplifications of theALKgene in advanced sporadic neuroblastoma tumours

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22071890

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2011.195

1 reference

Dimensions Publication ID

10 August 2017

0 references

1 reference

10 August 2017

1 reference