(Q34805434)

4 August 2017

1 reference

title

Hereditary paraganglioma targets diverse paraganglia (English)

1 reference

4 August 2017

1 reference

Baysal BE

1

1 reference

PubMed ID

12205103

4 August 2017

language of work or name

English

0 references

publication date

1 September 2002

1 reference

Journal of Medical Genetics

4 August 2017

1 reference

4 August 2017

39

1 reference

4 August 2017

617-622

1 reference

4 August 2017

9

1 reference

Germ-line mutations in nonsyndromic pheochromocytoma

4 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Absence of SDHD mutations in primary nasopharyngeal carcinomas

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Phenotypic dichotomy in mitochondrial complex II genetic disorders.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Genetics of familial paragangliomas: past, present, and future

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Regulation of oxygen sensing in peripheral arterial chemoreceptors

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Phaeochromocytomas discovered during coronial autopsies in Sydney, Melbourne and Auckland

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Stress-triggered activation of gene expression in catecholaminergic systems: dynamics of transcriptional events

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Pheochromocytoma: inherited associations, bilaterality, and cortex preservation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Expression of angiogenic growth factors in paragangliomas

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Gastric stromal sarcoma, pulmonary chondroma, and extra-adrenal paraganglioma (Carney Triad): natural history, adrenocortical component, and possible familial occurrence

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

The hypoxia-responsive transcription factor EPAS1 is essential for catecholamine homeostasis and protection against heart failure during embryonic development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Founder effect at PGL1 in hereditary head and neck paraganglioma families from the Netherlands

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Germline mutations in the vhl gene in patients presenting with phaeochromocytomas.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Genetic predisposition to phaeochromocytoma: analysis of candidate genes GDNF, RET and VHL.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Isolated familial pheochromocytoma as a variant of von Hippel-Lindau disease.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Extensive mutation scanning of RET in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

First experiences with genetic counselling based on predictive DNA diagnosis in hereditary glomus tumours (paragangliomas)

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Molecular genetic diagnosis of von Hippel-Lindau disease in familial phaeochromocytoma

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

A review of clinicopathologic features of pheochromocytomas in Hong Kong Chinese.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Hypoxia increases rate of transcription and stability of tyrosine hydroxylase mRNA in pheochromocytoma (PC12) cells.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Familial carotid body tumors: case report and epidemiologic review

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Occurrence of pheochromocytoma in Rochester, Minnesota, 1950 through 1979.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Prevalence of clinically unsuspected pheochromocytoma. Review of a 50-year autopsy series

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Phaeochromocytoma in Queensland--1970-83.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Pheochromocytoma in Sweden 1958-1981. An analysis of the National Cancer Registry Data

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

The incidence rate of phaeochromocytoma and Conn's syndrome in Denmark, 1977-1981.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Multiple paragangliomas in neurofibromatosis: a new neuroendocrine neoplasia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Adrenomedullary function in the neonatal rat: responses to acute hypoxia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Genomic imprinting in hereditary glomus tumours: evidence for new genetic theory

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Nonneurogenic hypoxia sensitivity in rat adrenal slices

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Benign paragangliomas: clinical presentation and treatment outcomes in 236 patients

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Germline SDHD mutation in paraganglioma of the spinal cord

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Analysis of the SDHD gene, the susceptibility gene for familial paraganglioma syndrome (PGL1), in pheochromocytomas

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

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

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Germline SDHD mutation in familial phaeochromocytoma

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Paraganglioma as a systemic syndrome: pitfalls and strategies.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Repositioning the hereditary paraganglioma critical region on chromosome band 11q23.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Molecular genetics of succinate:quinone oxidoreductase in eukaryotes.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Incidence of pheochromocytoma in South Galicia, Spain.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Metastatic carotid body paraganglioma in von Hippel-Lindau disease. An electron microscopic study.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Familial paraganglioma and gastric stromal sarcoma: a new syndrome distinct from the Carney triad

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

PGL3, a third, not maternally imprinted locus in autosomal dominant paraganglioma

9 December 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1735225

Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma

9 December 2018

1 reference

12 December 2020

Familial pheochromocytoma associated with a novel mutation in the von Hippel-Lindau gene

1 reference

12 December 2020

Functioning carotid paraganglioma in the von Hippel-Lindau syndrome

1 reference

12 December 2020

Chief cell hyperplasia in the human carotid body at high altitudes; physiologic and pathologic significance

1 reference

12 December 2020

Sporadic phaeochromocytomas are rarely associated with germline mutations in the von Hippel-Lindau and RET genes

1 reference

12 December 2020

Genetic alterations of the RET proto-oncogene in familial and sporadic pheochromocytomas

1 reference

12 December 2020

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

1 reference

12 December 2020

Glomus tumor and multiple endocrine neoplasia

1 reference

12 December 2020

The RET proto-oncogene in sporadic pheochromocytomas

1 reference

12 December 2020

Analysis of a second family with hereditary non-chromaffin paragangliomas locates the underlying gene at the proximal region of chromosome 11q

1 reference

12 December 2020

A carotid-body-like tumor on the left subclavian artery

1 reference

12 December 2020

Primary spinal paragangliomas: a clinicopathological and immunohistochemical study of 30 cases

1 reference

12 December 2020

Sporadic pheochromocytomas are rarely associated with germline mutations in the vhl tumor suppressor gene or the ret protooncogene

1 reference

12 December 2020

Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC: s

1 reference

12 December 2020

The RET protooncogene in sporadic pheochromocytomas: frequent MEN 2-like mutations and new molecular defects

1 reference

12 December 2020

Carotid body tumors at high altitudes: Quito, Ecuador, 1987

1 reference

12 December 2020

Carotid body paraganglioma in von Hippel-Lindau disease: a rare association

1 reference

12 December 2020

Paragangliomas of the head and neck region: a clinical study of 69 patients

1 reference

12 December 2020

Late-onset optic atrophy, ataxia, and myopathy associated with a mutation of a complex II gene

1 reference

12 December 2020

Three-decade investigation of familial pheochromocytoma. An allele of von Hippel-Lindau disease?

1 reference

12 December 2020

Oxygen-sensing mechanisms are present in the chromaffin cells of the sheep adrenal medulla before birth

1 reference

12 December 2020

Proportion of heritable paraganglioma cases and associated clinical characteristics

1 reference

12 December 2020

Mutations in the RET protooncogene in sporadic pheochromocytomas

1 reference

12 December 2020

THE INCIDENCE OF PHAEOCHROMOCYTOMA IN THE NETHERLANDS

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.39.9.617

1 reference

4 August 2017

1 reference

4 August 2017

1 reference

PubMed ID

12205103