(Q57817505)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962301%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

title

Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma (English)

1 reference

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12 February 2020

1 reference

sporadic pheochromocytoma

1 reference

4

1 reference

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12 February 2020

Eric Pasmant

7

1 reference

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12 February 2020

Jérome Bertherat

10

1 reference

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12 February 2020

Laurence Amar

11

1 reference

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12 February 2020

Judith Favier

13

1 reference

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Anne-Paule Gimenez-Roqueplo

12 February 2020

14

1 reference

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12 February 2020

2

Alexandre Buffet

1 reference

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12 February 2020

1

Nelly Burnichon

1 reference

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12 February 2020

6

Céline Loriot

1 reference

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12 February 2020

8

Nasséra Abermil

1 reference

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12 February 2020

author name string

Béatrice Parfait

3

1 reference

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12 February 2020

Ingrid Laurendeau

5

1 reference

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12 February 2020

Laurence Valeyrie-Allanore

9

1 reference

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12 February 2020

Dominique Vidaud

12

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12 February 2020

publication date

6 September 2012

1 reference

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12 February 2020

published in

Human Molecular Genetics

1 reference

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12 February 2020

volume

21

1 reference

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12 February 2020

issue

26

1 reference

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12 February 2020

page(s)

5397-5405

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962301%20AND%20SRC:MED&resulttype=core&format=json

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

12 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

SDHA is a tumor suppressor gene causing paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Identification of the von Hippel-Lindau disease tumor suppressor gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Genetic testing in pheochromocytoma or functional paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Genetics of pheochromocytoma and paraganglioma in Spanish patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Recent insights into the molecular pathogenesis of pheochromocytoma and paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

An integrated genomic analysis of human glioblastoma multiforme

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Comprehensive genomic characterization defines human glioblastoma genes and core pathways

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Somatic mutations affect key pathways in lung adenocarcinoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

NF1 is a tumor suppressor in neuroblastoma that determines retinoic acid response and disease outcome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Recent developments in neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Integrative genomic analyses of neurofibromatosis tumours identify SOX9 as a biomarker and survival gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Initial work-up and long-term follow-up in patients with phaeochromocytomas and paragangliomas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Normalization of Illumina Infinium whole-genome SNP data improves copy number estimates and allelic intensity ratios

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Identity by descent mapping of founder mutations in cancer using high-resolution tumor SNP data

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Genome Alteration Print (GAP): a tool to visualize and mine complex cancer genomic profiles obtained by SNP arrays

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Gene Expression Omnibus: NCBI gene expression and hybridization array data repository

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Role of noncoding RNA ANRIL in genesis of plexiform neurofibromas in neurofibromatosis type 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Recurrent mutations in the NF1 gene are common among neurofibromatosis type 1 patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

The neurofibromatosis type 1 gene encodes a protein related to GAP

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDS374

21 January 2018

Identifiers

DOI

10.1093/HMG/DDS374

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22962301%20AND%20SRC:MED&resulttype=core&format=json

12 February 2020

1 reference