(Q34658237)

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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.

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scholarly article

1 reference

Europe PubMed Central

3 August 2017

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. (English)

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Europe PubMed Central

3 August 2017

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Carney-Stratakis syndrome

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Constantine A Stratakis

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Constantine A Stratakis

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9

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Karel Pacak

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1

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Barbara Pasini

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Europe PubMed Central

3 August 2017

Sosipatros A Boikos

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Sosipatros A Boikos

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Europe PubMed Central

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Barbara Ferrando

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Barbara Ferrando

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Pierre Rustin

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Anne-Paule Gimenez-Roqueplo

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Anne-Paule Gimenez-Roqueplo

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author name string

Sarah R McWhinney

2

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Thalia Bei

3

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Europe PubMed Central

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Ludmila Matyakhina

4

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Sotirios Stergiopoulos

5

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Michael Muchow

6

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Guillaume Assie

10

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Eric Baudin

11

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Agnes Chompret

12

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Jay W Ellison

13

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Jean-Jacques Briere

14

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Charis Eng

17

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J Aidan Carney

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3 August 2017

publication date

1 August 2007

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European Journal of Human Genetics

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16

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79-88

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1

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3 August 2017

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201904

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Genetic testing in pheochromocytoma or functional paraganglioma.

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

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

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Gastrointestinal stromal tumour in succinate dehydrogenase subunit B mutation-associated familial phaeochromocytoma/paraganglioma

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

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Gain-of-function mutations of c-kit in human gastrointestinal stromal tumors

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PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor

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Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA.

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Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

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Three spectrophotometric assays for the measurement of the five respiratory chain complexes in minuscule biological samples

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

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Separate occurrence of extra-adrenal paraganglioma and gastrointestinal stromal tumor in monozygotic twins: probable familial Carney syndrome

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Gastrointestinal stromal tumors: a contemporary review

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Evaluation of malignancy and prognosis of gastrointestinal stromal tumors: a review

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PDGFRA activating mutations in gastrointestinal stromal tumors.

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Correlation of KIT and platelet-derived growth factor receptor alpha mutations with gene activation and expression profiles in gastrointestinal stromal tumors

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Gastrointestinal stromal tumor (GIST) pathogenesis, familial GIST, and animal models

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PDGF signaling specificity is mediated through multiple immediate early genes

1 reference

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

1 reference

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Mitochondrial succinate is instrumental for HIF1alpha nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions

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Identifiers

10.1038/SJ.EJHG.5201904

1 reference

Europe PubMed Central

3 August 2017

1 reference

Europe PubMed Central

3 August 2017

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