Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.

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Metabologenomics of Phaeochromocytoma and Paraganglioma: An Integrated Approach for Personalised Biochemical and Genetic Testing.

P2860

Q49174438-9733A796-2FD3-4806-822C-76A3C5ED6817

P2860

Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.

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http://www.wikidata.org/entity/Q48823803

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2017 nî lūn-bûn

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2017年の論文

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2017年学术文章

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2017年学术文章

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2017年学术文章

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2017年學術文章

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name

Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.

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Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.

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type

Item

label

Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.

@en

Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.

@nl

prefLabel

Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.

@en

Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.

@nl

P1476

Implications of SDHB genetic testing in patients with sporadic pheochromocytoma

@en

P2093

Alessio Imperiale

http://www.w3.org/2001/XMLSchema#string

Anne Barlier

http://www.w3.org/2001/XMLSchema#string

Aurelie Maignan

http://www.w3.org/2001/XMLSchema#string

Carole Guerin

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David Taïeb

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Edward Kim

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Fréderic Sebag

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Julien Mancini

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Karel Pacak

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Nunzia-Cinzia Paladino

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P2860

Crystal structure of mitochondrial respiratory membrane protein complex II

Clustal omega

Protein structure modeling with MODELLER.

Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD.

Rare germline mutations identified by targeted next-generation sequencing of susceptibility genes in pheochromocytoma and paraganglioma.

Succinate-to-fumarate ratio as a new metabolic marker to detect the presence of SDHB/D-related paraganglioma: initial experimental and ex vivo findings.

Renaissance of (18)F-FDG positron emission tomography in the imaging of pheochromocytoma/paraganglioma.

Krebs cycle metabolite profiling for identification and stratification of pheochromocytomas/paragangliomas due to succinate dehydrogenase deficiency.

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Metabolome profiling by HRMAS NMR spectroscopy of pheochromocytomas and paragangliomas detects SDH deficiency: clinical and pathophysiological implications.

P2888

s00423-017-1564-y

P304

787-798

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scholarly article

P356

10.1007/S00423-017-1564-Y

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P407

English

P433

http://www.w3.org/2001/XMLSchema#string

P478

402

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P50

Frederic Castinetti

Pauline Romanet

Roderick J Clifton-Bligh

P Roche

P577

2017-02-22T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

28229225

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P921

phaeochromocytoma

Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.

about

P2860

P2860

Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P50

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P2888

P304

P31

P356

P407

P433

P478

P50

P577

P698

P921