Tumour risks and genotype–phenotype–proteotype analysis of patients with germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD
Germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD are the most frequent causes of inherited phaeochromocytomas and paragangliomas. Insufficient information regarding penetrance and phenotypic variability hinders optimum management of mutation carriers. Our aim was...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Andrews, Katrina A [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2016 |
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| Übergeordnetes Werk: |
Enthalten in: Effects of shape functions on flexural–torsional buckling of fixed circular arches - Dou, Chao ELSEVIER, 2013, London [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:387 ; year:2016 ; day:25 ; month:02 ; pages:19 |
| Links: |
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| DOI / URN: |
10.1016/S0140-6736(16)00406-2 |
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| 520 | |a Germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD are the most frequent causes of inherited phaeochromocytomas and paragangliomas. Insufficient information regarding penetrance and phenotypic variability hinders optimum management of mutation carriers. Our aim was to provide estimates of penetrance and genotype–phenotype correlations in a large cohort of succinate dehydrogenase mutation carriers. | ||
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10.1016/S0140-6736(16)00406-2 doi GBVA2016002000012.pica (DE-627)ELV019050232 (ELSEVIER)S0140-6736(16)00406-2 DE-627 ger DE-627 rakwb eng 610 610 DE-600 690 VZ 38.38 bkl 56.20 bkl 56.11 bkl Andrews, Katrina A verfasserin aut Tumour risks and genotype–phenotype–proteotype analysis of patients with germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD 2016 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD are the most frequent causes of inherited phaeochromocytomas and paragangliomas. Insufficient information regarding penetrance and phenotypic variability hinders optimum management of mutation carriers. Our aim was to provide estimates of penetrance and genotype–phenotype correlations in a large cohort of succinate dehydrogenase mutation carriers. Vialard, Lindsey oth Ascher, David B oth Pires, Douglas E V oth Bradshaw, Nicola oth Cole, Trevor oth Cook, Jackie oth Irving, Richard oth Kumar, Ajith oth Lalloo, Fiona oth Izatt, Louise oth Goudie, David oth Woodward, Emma R oth Maher, Eamonn R oth Enthalten in Elsevier Dou, Chao ELSEVIER Effects of shape functions on flexural–torsional buckling of fixed circular arches 2013 London [u.a.] (DE-627)ELV007685041 volume:387 year:2016 day:25 month:02 pages:19 https://doi.org/10.1016/S0140-6736(16)00406-2 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OPC-GEO 38.38 Seismologie VZ 56.20 Ingenieurgeologie Bodenmechanik VZ 56.11 Baukonstruktion VZ AR 387 2016 25 0225 19 387.2016, S19- 045F 610 |
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Andrews, Katrina A |
| doi_str_mv |
10.1016/S0140-6736(16)00406-2 |
| dewey-full |
610 690 |
| title_sort |
tumour risks and genotype–phenotype–proteotype analysis of patients with germline mutations in the succinate dehydrogenase subunit genes sdhb, sdhc, and sdhd |
| title_auth |
Tumour risks and genotype–phenotype–proteotype analysis of patients with germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD |
| abstract |
Germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD are the most frequent causes of inherited phaeochromocytomas and paragangliomas. Insufficient information regarding penetrance and phenotypic variability hinders optimum management of mutation carriers. Our aim was to provide estimates of penetrance and genotype–phenotype correlations in a large cohort of succinate dehydrogenase mutation carriers. |
| abstractGer |
Germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD are the most frequent causes of inherited phaeochromocytomas and paragangliomas. Insufficient information regarding penetrance and phenotypic variability hinders optimum management of mutation carriers. Our aim was to provide estimates of penetrance and genotype–phenotype correlations in a large cohort of succinate dehydrogenase mutation carriers. |
| abstract_unstemmed |
Germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD are the most frequent causes of inherited phaeochromocytomas and paragangliomas. Insufficient information regarding penetrance and phenotypic variability hinders optimum management of mutation carriers. Our aim was to provide estimates of penetrance and genotype–phenotype correlations in a large cohort of succinate dehydrogenase mutation carriers. |
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| title_short |
Tumour risks and genotype–phenotype–proteotype analysis of patients with germline mutations in the succinate dehydrogenase subunit genes SDHB, SDHC, and SDHD |
| url |
https://doi.org/10.1016/S0140-6736(16)00406-2 |
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| author2 |
Vialard, Lindsey Ascher, David B Pires, Douglas E V Bradshaw, Nicola Cole, Trevor Cook, Jackie Irving, Richard Kumar, Ajith Lalloo, Fiona Izatt, Louise Goudie, David Woodward, Emma R Maher, Eamonn R |
| author2Str |
Vialard, Lindsey Ascher, David B Pires, Douglas E V Bradshaw, Nicola Cole, Trevor Cook, Jackie Irving, Richard Kumar, Ajith Lalloo, Fiona Izatt, Louise Goudie, David Woodward, Emma R Maher, Eamonn R |
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| doi_str |
10.1016/S0140-6736(16)00406-2 |
| up_date |
2024-07-06T20:25:59.201Z |
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