(Q57667365)

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Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas

scientific article published on 25 October 2013

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scholarly article

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27 February 2020

Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas (English)

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27 February 2020

Aideen M McInerney-Leo

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27 February 2020

Matthew A. Brown

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27 February 2020

Roderick J Clifton-Bligh

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27 February 2020

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27 February 2020

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Bruce G Robinson

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27 February 2020

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Brooke Gardiner

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27 February 2020

Janelle McFarlane

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27 February 2020

Mhairi S Marshall

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27 February 2020

Diana E Benn

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27 February 2020

Paul J Leo

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27 February 2020

publication date

25 October 2013

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27 February 2020

Clinical Endocrinology

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27 February 2020

80

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27 February 2020

1

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27 February 2020

25-33

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27 February 2020

Phaeochromocytoma presenting as acute circulatory collapse and abdominal pain

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Clinical experience over 48 years with pheochromocytoma

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Identification of the von Hippel-Lindau disease tumor suppressor gene

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

The pressure rises: update on the genetics of phaeochromocytoma

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Genetics of pheochromocytoma and paraganglioma in Spanish patients.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Genetic testing in pheochromocytoma or functional paraganglioma

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

LOVD v.2.0: the next generation in gene variant databases

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

SDHA is a tumor suppressor gene causing paraganglioma

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

PHD2 mutation and congenital erythrocytosis with paraganglioma.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Current concepts. Pheochromocytoma: diagnosis, localization and management

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Germ-line mutations in nonsyndromic pheochromocytoma

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Genetic testing for pheochromocytoma

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

The genetics of phaeochromocytoma: using clinical features to guide genetic testing.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Somatic von Hippel-Lindau mutation in clear cell papillary cystadenoma of the epididymis

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

A novel mutation in the von Hippel-Lindau gene.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Multicentric carpotarsal osteolysis is caused by mutations clustering in the amino-terminal transcriptional activation domain of MAFB.

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Next-generation sequencing in the clinical genetic screening of patients with pheochromocytoma and paraganglioma

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Coverage bias and sensitivity of variant calling for four whole-genome sequencing technologies

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Attenuated BMP1 function compromises osteogenesis, leading to bone fragility in humans and zebrafish

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries

1 reference

https://api.crossref.org/works/10.1111%2FCEN.12331

21 January 2018

Identifiers

10.1111/CEN.12331

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24102379%20AND%20SRC:MED&resulttype=core&format=json

27 February 2020

1 reference

Europe PubMed Central

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27 February 2020

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