Clinical consensus guideline on the management of phaeochromocytoma and paraganglioma in patients harbouring germline SDHD pathogenic variants
Patients with germline SDHD pathogenic variants (encoding succinate dehydrogenase
subunit D; ie, paraganglioma 1 syndrome) are predominantly affected by head and neck …
subunit D; ie, paraganglioma 1 syndrome) are predominantly affected by head and neck …
[HTML][HTML] Management of phaeochromocytoma and paraganglioma in patients with germline SDHB pathogenic variants: an international expert Consensus statement
D Taïeb, S Nölting, ND Perrier, M Fassnacht… - Nature Reviews …, 2024 - nature.com
Adult and paediatric patients with pathogenic variants in the gene encoding succinate
dehydrogenase (SDH) subunit B (SDHB) often have locally aggressive, recurrent or …
dehydrogenase (SDH) subunit B (SDHB) often have locally aggressive, recurrent or …
Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations
HPH Neumann, C Pawlu, M Pęczkowska, B Bausch… - Jama, 2004 - jamanetwork.com
ContextGermline mutations of the genes encoding succinate dehydrogenase subunits B
(SDHB) and D (SDHD) predispose to paraganglioma syndromes type 4 (PGL-4) and type 1 …
(SDHB) and D (SDHD) predispose to paraganglioma syndromes type 4 (PGL-4) and type 1 …
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a …
FH van Nederveen, J Gaal, J Favier… - The lancet …, 2009 - thelancet.com
Background Phaeochromocytomas and paragangliomas are neuro-endocrine tumours that
occur sporadically and in several hereditary tumour syndromes, including the …
occur sporadically and in several hereditary tumour syndromes, including the …
Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study
K Van Der Tuin, AR Mensenkamp… - The Journal of …, 2018 - academic.oup.com
Context Paraganglioma (PGL) has the highest degree of heritability among human
neoplasms. Current clinical understanding of germline SDHA mutation carriers is limited …
neoplasms. Current clinical understanding of germline SDHA mutation carriers is limited …
The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas
N Burnichon, V Rohmer, L Amar… - The Journal of …, 2009 - academic.oup.com
Context: Germline mutations in SDHx genes cause hereditary paraganglioma. Objective:
The aim of the study was to assess the indications for succinate dehydrogenase (SDH) …
The aim of the study was to assess the indications for succinate dehydrogenase (SDH) …
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes
DE Benn, AP Gimenez-Roqueplo… - The Journal of …, 2006 - academic.oup.com
Context: The identification of mutations in genes encoding peptides of succinate
dehydrogenase (SDH) in pheochromocytoma/paraganglioma syndromes has necessitated …
dehydrogenase (SDH) in pheochromocytoma/paraganglioma syndromes has necessitated …
Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients
EF Hensen, MD Siemers, JC Jansen… - Clinical …, 2011 - Wiley Online Library
Objective Head and neck paragangliomas (HNPGL) are associated with mutations in genes
encoding subunits of succinate dehydrogenase (SDH). The aim of this study was to evaluate …
encoding subunits of succinate dehydrogenase (SDH). The aim of this study was to evaluate …
[引用][C] Are we overestimating the penetrance of mutations in SDHB?
F Schiavi, RL Milne, E Anda, P Blay… - Human …, 2010 - Wiley Online Library
We recently read with interest the article by Ricketts and colleagues [2010] based on a
genotype–phenotype association study performed in a very large number of germline SDHB …
genotype–phenotype association study performed in a very large number of germline SDHB …
Mutations associated with succinate dehydrogenase d‐related malignant paragangliomas
HJLM Timmers, K Pacak, J Bertherat… - Clinical …, 2008 - Wiley Online Library
Objective Hereditary paraganglioma (PGL) syndromes result from germline mutations in
genes encoding subunits B, C and D of the mitochondrial enzyme succinate dehydrogenase …
genes encoding subunits B, C and D of the mitochondrial enzyme succinate dehydrogenase …
相关搜索
- paraganglioma in patients management of phaeochromocytoma
- paraganglioma in patients consensus guideline
- consensus guideline management of phaeochromocytoma
- paraganglioma in patients germline sdhb
- germline sdhb management of phaeochromocytoma
- succinate dehydrogenase patients with paragangliomas
- large prospective series patients with paragangliomas
- patients with paraganglioma genetic test
- patients with paraganglioma immunohistochemical procedure
- patients with paraganglioma positive impact
- pheochromocytoma and paraganglioma clinical aspects
- mutations in sdhd clinical characteristics
- consensus guideline phaeochromocytoma and paraganglioma
- germline sdhb phaeochromocytoma and paraganglioma
- patients with paraganglioma management and outcome