(Q30381330)

21 June 2017

title

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

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21 June 2017

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Eamonn R Maher

27

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Gareth Evans

object named as

D Gareth R Evans

20

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Tom Blundell

25

object named as

Tom L Blundell

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21 June 2017

author name string

Christopher J Ricketts

1

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21 June 2017

Julia R Forman

2

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21 June 2017

Eleanor Rattenberry

3

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21 June 2017

Nicola Bradshaw

4

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21 June 2017

Fiona Lalloo

5

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21 June 2017

Louise Izatt

6

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21 June 2017

Trevor R Cole

7

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21 June 2017

Ruth Armstrong

8

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21 June 2017

V K Ajith Kumar

9

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21 June 2017

Patrick J Morrison

10

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21 June 2017

A Brew Atkinson

11

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21 June 2017

Fiona Douglas

12

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21 June 2017

Steve G Ball

13

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21 June 2017

Jackie Cook

14

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21 June 2017

Umasuthan Srirangalingam

15

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21 June 2017

Pip Killick

16

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21 June 2017

Gail Kirby

17

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21 June 2017

Simon Aylwin

18

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21 June 2017

Emma R Woodward

19

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21 June 2017

Shirley V Hodgson

21

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21 June 2017

Vicky Murday

22

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21 June 2017

Shern L Chew

23

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21 June 2017

John M Connell

24

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21 June 2017

Fiona Macdonald

26

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21 June 2017

publication date

1 January 2010

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21 June 2017

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21 June 2017

volume

31

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21 June 2017

issue

1

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21 June 2017

page(s)

41-51

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Genetic testing in pheochromocytoma or functional paraganglioma

21 June 2017

cites work

1 reference

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7 January 2021

Succinate Dehydrogenase B Gene Mutations Predict Survival in Patients with Malignant Pheochromocytomas or Paragangliomas

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https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Succinate dehydrogenase subunit B (SDHB) gene deletion associated with a composite paraganglioma/neuroblastoma

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7 January 2021

Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect

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https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Germline SDHD mutation in familial phaeochromocytoma

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https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility

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https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss

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7 January 2021

The prevalence of SDHB, SDHC, and SDHD mutations in patients with head and neck paraganglioma and association of mutations with clinical features.

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7 January 2021

Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma

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7 January 2021

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

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7 January 2021

Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas

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7 January 2021

Clinical and molecular progress in hereditary paraganglioma

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7 January 2021

Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas

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https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

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7 January 2021

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

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https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

High frequency of SDHB germline mutations in patients with malignant catecholamine-producing paragangliomas: implications for genetic testing

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https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

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

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https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Gross SDHB deletions in patients with paraganglioma detected by multiplex PCR: a possible hot spot?

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https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Molecular characterisation of a common SDHB deletion in paraganglioma patients.

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https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Distinguishing structural and functional restraints in evolution in order to identify interaction sites

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https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Identification of intragenic mutations in the von Hippel-Lindau disease tumour suppressor gene and correlation with disease phenotype

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https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

A case of familial paraganglioma syndrome type 4 caused by a mutation in the SDHB gene.

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https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Structural bioinformatics mutation analysis reveals genotype-phenotype correlations in von Hippel-Lindau disease and suggests molecular mechanisms of tumorigenesis

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https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Familial paraganglioma: a novel presentation of a case and response to therapy with radiolabelled MIBG

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Neuronal apoptosis linked to EglN3 prolyl hydroxylase and familial pheochromocytoma genes: developmental culling and cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

High frequency of germline succinate dehydrogenase mutations in sporadic cervical paragangliomas in northern Spain: mitochondrial succinate dehydrogenase structure-function relationships and clinical-pathological correlations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

The pressure rises: update on the genetics of phaeochromocytoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Genetic screening for pheochromocytoma: should SDHC gene analysis be included?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

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/10.1002%2FHUMU.21136

7 January 2021

K40E: a novel succinate dehydrogenase (SDH)B mutation causing familial phaeochromocytoma and paraganglioma.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Large germline deletions of mitochondrial complex II subunits SDHB and SDHD in hereditary paraganglioma

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https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Pediatric paraganglioma: An early manifestation of an adult disease secondary to germline mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Genotype-phenotype correlations in von Hippel-Lindau disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

The mitochondrial SDHD gene is required for early embryogenesis, and its partial deficiency results in persistent carotid body glomus cell activation with full responsiveness to hypoxia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Expression of HIF-1alpha, HIF-2alpha (EPAS1), and their target genes in paraganglioma and pheochromocytoma with VHL and SDH mutations.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Germline SDHB mutations and familial renal cell carcinoma.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Paraganglioma syndrome: SDHB, SDHC, and SDHD mutations in head and neck paragangliomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Andante: reducing side-chain rotamer search space during comparative modeling using environment-specific substitution probabilities

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Structure of the VHL-ElonginC-ElonginB complex: implications for VHL tumor suppressor function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Crystal structure of mitochondrial respiratory membrane protein complex II

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Ubiquinone-binding Site Mutations in the Saccharomyces cerevisiae Succinate Dehydrogenase Generate Superoxide and Lead to the Accumulation of Succinate

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Prediction of the stability of protein mutants based on structural environment-dependent amino acid substitution and propensity tables

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

An analysis of phenotypic variation in the familial cancer syndrome von Hippel-Lindau disease: evidence for modifier effects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

A structural bioinformatics approach to the analysis of nonsynonymous single nucleotide polymorphisms (nsSNPs) and their relation to disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21136

7 January 2021

Identifiers

DOI

10.1002/HUMU.21136

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21 June 2017

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