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

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

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

http://www.wikidata.org/entity/Q33570108

about

Molecular markers of paragangliomas/pheochromocytomas Systematic genetic screening in a prospective group of Danish patients with pheochromocytoma.Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated gene Whole-exome sequencing identifies somatic ATRX mutations in pheochromocytomas and paragangliomas.Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma HRAS mutation prevalence and associated expression patterns in pheochromocytoma.Expression Profiling of a Human Thyroid Cell Line Stably Expressing the BRAFV600E Mutation.Paraganglioma and phaeochromocytoma: from genetics to personalized medicine.Genetic test in multiple endocrine neoplasia type 1 syndrome: An evolving story.Next-generation sequencing for endocrine cancers: Recent advances and challenges.PheoSeq: A Targeted Next-Generation Sequencing Assay for Pheochromocytoma and Paraganglioma Diagnostics.Precision medicine in pheochromocytoma and paraganglioma: current and future concepts.Consensus Statement on next-generation-sequencing-based diagnostic testing of hereditary phaeochromocytomas and paragangliomas.Immunohistochemical NF1 analysis does not predict NF1 gene mutation status in pheochromocytoma.Extent of surgery for phaeochromocytomas in the genomic era.Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention.New Perspectives on Pheochromocytoma and Paraganglioma: Toward a Molecular Classification.Activating FGFR1 Mutations in Sporadic Pheochromocytomas.Trends of genetic screening in patients with pheochromocytoma and paraganglioma: 15-year experience in a high-volume tertiary referral center.Implications of SDHB genetic testing in patients with sporadic pheochromocytoma.Metabologenomics of Phaeochromocytoma and Paraganglioma: An Integrated Approach for Personalised Biochemical and Genetic Testing.Exome analysis of carotid body tumor.[Head and neck paragangliomas: An interdisciplinary challenge].A Novel RET D898Y Germline Mutation in a Patient with Pheochromocytoma.Utility of Population-Level DNA Sequence Data in the Diagnosis of Hereditary Endocrine Disease.Genomic feature selection by coverage design optimization Over-diagnosis of potential malignant behavior in MEN 2A-associated pheochromocytomas using the PASS and GAPP algorithms The Diagnosis and Clinical Significance of Paragangliomas in Unusual Locations HIF-2α-pVHL complex reveals broad genotype-phenotype correlations in HIF-2α-driven disease Whole Exome Sequencing Uncovers Germline Variants of Cancer-Related Genes in Sporadic Pheochromocytoma

P2860

Q33649025-2473C047-41D6-4758-B4F3-2D93B10B47FE Q33878831-5D8E6424-D261-43E1-92B6-651DC8916CEC Q34478820-CF03F02A-C16B-497D-84F4-82DA4017EE84 Q34998940-2329C563-3679-4C83-B4D5-2554B9417839 Q35731152-D7994726-D7D1-40E9-B524-14288C30249D Q36694372-8BA1325F-B34F-4426-84ED-9CCBBD9C6AD1 Q37607913-E09CFDF4-35DC-4BA2-8080-B5452F42CE68 Q38266745-05E50BD3-E10D-47B4-8A4F-A829C9641ED6 Q38493262-FE2AB98B-04B5-4C1D-82AC-F274FDCEAA0E Q38689095-1B66B3FF-2F1B-4ADF-8F5B-EA28193D9917 Q38759395-C36A4B21-13CE-48D4-9918-64C871EA4F81 Q38831451-EA63A917-A80E-49E3-825C-410175615DC5 Q39011468-F97431F4-C836-4BBE-B793-C3032A6DC8C6 Q43481604-619519B2-28CF-48EC-A1FA-CE691C4BB63B Q47552587-E483A0D8-BDE9-4E52-8BF6-35E95F48A361 Q47801615-DB60FD06-E69E-42BD-AB60-432BC9071139 Q47934716-8B69D43B-C2A7-4B1B-A44B-0A42E8A355A3 Q47959074-E6922F5E-C2E9-4943-B772-0EF349C2790B Q48283123-2C937A94-AB91-484F-9180-DEC7D7CDDA33 Q48823803-1D0C39EA-9065-468E-B4FE-93943461597B Q49174438-6D407ED5-19D2-4B6B-9F5F-A199A85A4561 Q52674249-A8AC3073-1811-43F7-8DD4-7136D104B3C6 Q53658172-8C3C15D4-3AFF-4022-A8C4-8DD01B735AE9 Q55113665-02227D9C-2FC8-492F-8DD1-F6AEF4313EEB Q55259915-1525626B-CA04-4B14-81DA-BCD51C7BB942 Q57063545-549135A3-4472-42C9-9852-B5EFBF49B6AD Q57165237-9E4A5E91-D45F-4DDC-9DA8-1734AD546849 Q57793471-85DE7407-AD3D-4C44-B3B7-5D215A845058 Q58721805-58CD05A1-1E9F-4024-BF45-DA376CEE52EC Q58766079-54D112FC-0585-4AF3-ADD0-58039DB07A3B

P2860

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

http://www.wikidata.org/entity/Q33570108

description

2014 nî lūn-bûn

@nan

2014 թուականի Ապրիլին հրատարակուած գիտական յօդուած

@hyw

2014 թվականի ապրիլին հրատարակված գիտական հոդված

@hy

2014年の論文

@ja

2014年論文

@yue

2014年論文

@zh-hant

2014年論文

@zh-hk

2014年論文

@zh-mo

2014年論文

@zh-tw

2014年论文

@wuu

name

Rare germline mutations identi ...... hromocytoma and paraganglioma.

@ast

Rare germline mutations identi ...... hromocytoma and paraganglioma.

@en

Rare germline mutations identi ...... hromocytoma and paraganglioma.

@nl

type

label

Rare germline mutations identi ...... hromocytoma and paraganglioma.

@ast

Rare germline mutations identi ...... hromocytoma and paraganglioma.

@en

Rare germline mutations identi ...... hromocytoma and paraganglioma.

@nl

prefLabel

Rare germline mutations identi ...... hromocytoma and paraganglioma.

@ast

Rare germline mutations identi ...... hromocytoma and paraganglioma.

@en

Rare germline mutations identi ...... hromocytoma and paraganglioma.

@nl

P1433

Q33570108-823D3A75-416B-40FF-9AA3-F301D1B1378D

P1476

Q33570108-62FD34AE-1E61-4C70-B735-345A33D9B19E

P2093

Q33570108-73EFB0E5-3876-4E3E-81EE-CC369D4BD1DF

Q33570108-9CA377FA-65DD-40F6-8C28-9D9C3EAEA6EB

Q33570108-9D7C2D07-3F5D-401F-B74D-0CF037BBACE8

Q33570108-A9645C1D-F7F9-4711-9273-1A0B557CD721

Q33570108-CDAB948A-6160-44FF-A90A-FAD219AA7B54

Q33570108-CF4F4828-5CF5-4545-AF84-F22E0693217A

Q33570108-D82C0CEE-F2CB-4F6D-BD5A-032435AFA6C1

Q33570108-E7B1107B-D80A-4820-B7C2-FB0209BF3C32

P2860

Q33570108-12B4D96C-2662-4290-9830-1321DA477DF8

Q33570108-1A74CE9D-A998-42F5-AA81-4033401C138E

Q33570108-2F896FF9-69D4-4226-8B88-F8179A2F2433

Q33570108-30E5715C-ECE0-445E-ABA4-85CB8E5EEC9E

Q33570108-35873CD7-B452-44DD-AB23-79172FCA2A74

Q33570108-3A079440-BFF6-4A10-9411-1C97DD7904B0

Q33570108-3EBD8B96-7CCA-4F52-B2CA-2B5CCFF4E62C

Q33570108-49C83FFB-9875-41F8-9028-87280C1ACB96

Q33570108-4AEAEFF2-D434-473C-8803-2D4F5DAF9118

Q33570108-4B2C132C-9723-4415-8927-A8EB2261ADD2

P304

Q33570108-C83A0106-0DE2-4C53-9962-92750A1CF378

P31

Q33570108-8D29281F-F4F9-4EC3-BEF9-6A5739BC657C

P356

Q33570108-98BAF816-153D-4981-BA78-06163631F9C1

P407

Q33570108-ACEED826-DA22-43B0-81E7-A7E8D2489CC2

P433

Q33570108-53A95F26-621E-41DB-BD44-94C79BBCA30A

P478

Q33570108-6E7BA7D5-4DE5-412B-96FF-3819B877BBE2

P50

Q33570108-432F0626-1E76-4B87-B663-E9D40EF5D195

P577

Q33570108-F0E1569B-C3F1-4983-9875-832AA1A63BD5

P698

Q33570108-2996AF40-4FD2-48A8-8D42-975263219E6B

P921

Q33570108-E262094D-859E-445B-9094-E4EF5D613D5F

P932

Q33570108-DFCBC473-DDF4-4CDC-BAF2-545531FCB8D9

P356

P1433

The Journal of Clinical Endocrinology and Metabolism

P1476

Rare germline mutations identi ...... hromocytoma and paraganglioma.

@en

P2093

Anders Höög

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

C Christofer Juhlin

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

Catharina Larsson

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

Jenny Welander

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

Martin Bäckdahl

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

Oliver Gimm

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

Peter Söderkvist

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

Roger W Wiseman

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

P2860

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

Somatic HIF2A gain-of-function mutations in paraganglioma with polycythemia

A method and server for predicting damaging missense mutations

Multiple endocrine neoplasia type 1: new clinical and basic findings

Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma

RNA helicase A is a downstream mediator of KIF1Bβ tumor-suppressor function in neuroblastoma.

Integrative genomics viewer

MutationTaster evaluates disease-causing potential of sequence alterations

Coordinate regulation of the oxygen-dependent degradation domains of hypoxia-inducible factor 1 alpha.

Comparison of solution-based exome capture methods for next generation sequencing

P304

E1352-60

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

P31

scholarly article

P356

10.1210/JC.2013-4375

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

P407

P433

7

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

P478

99

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

P50

P577

2014-04-02T00:00:00Z

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

P698

24694336

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

P921

phaeochromocytoma

P932

5393486

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