The Dutch founder mutation SDHD.D92Y shows a reduced penetrance for the development of paragangliomas in a large multigenerational family (Q24599202)

1

0 references

Jeroen C Jansen

2

0 references

Maaike D Siemers

3

0 references

Jan C Oosterwijk

4

0 references

Annette Hjt Vriends

5

0 references

Eleonora Pm Corssmit

6

0 references

Jean-Pierre Bayley

7

0 references

Andel Gl van der Mey

8

0 references

Cees J Cornelisse

European Journal of Human Genetics

9

0 references

language of work or name

English

0 references

publication date

January 2010

0 references

published in

0 references

volume

18

0 references

issue

1

0 references

page(s)

62-6

0 references

cites work

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

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987152

24 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987152

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987152

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987152

Genomic imprinting and environment in hereditary paraganglioma

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987152

Founder mutations among the Dutch

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987152

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987152

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987152

Familial paragangliomas of the head and neck

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987152

Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987152

Carotid body tumors in humans: genetics and epidemiology

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987152

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987152

MRI screening of kindred at risk of developing paragangliomas: support for genomic imprinting in hereditary glomus tumours

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987152

Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987152

Optimal designs for estimating penetrance of rare mutations of a disease-susceptibility gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2987152

Glomus tumours and genomic imprinting: influence of inheritance along the paternal or maternal line.

30 May 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.112

Distal arthrogryposis: a new type with distinct facial appearance and absent teeth

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.112

Mutations in SDHC cause autosomal dominant paraganglioma, type 3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.112

Extra-adrenal and adrenal pheochromocytomas associated with a germline SDHC mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.112

Increased prevalence of catecholamine excess and phaeochromocytomas in a well-defined Dutch population with SDHD-linked head and neck paragangliomas.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.112

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.112

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.112

Somatic loss of maternal chromosome 11 causes parent-of-origin-dependent inheritance in SDHD-linked paraganglioma and phaeochromocytoma families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.112

Estimating disease risk associated with mutated genes in family-based designs

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.112

On the use of familial aggregation in population-based case probands for calculating penetrance.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.112

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.112

SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.112

Estimation of growth rate in patients with head and neck paragangliomas influences the treatment proposal

21 January 2018

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

Familiar non-chromaffinic paragangliomas (glomus tumors). Clinical and genetic aspects (abridged)

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

Confinement of PGL, an imprinted gene causing hereditary paragangliomas, to a 2-cM interval on 11q22-q23 and exclusion of DRD2 and NCAM as candidate genes

1 reference

12 December 2020

Variation of risks of breast and ovarian cancer associated with different germline mutations of the BRCA2 gene

1 reference

12 December 2020

Malignant paragangliomas associated with mutations in the succinate dehydrogenase D gene

1 reference

12 December 2020

Dimensions Publication ID

Identifiers

DOI

10.1038/EJHG.2009.112

0 references

1046143017

0 references

Fatcat ID

release_mp4fsknufrhz7gxqqbqqoclpmy

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/mp4fsknufrhz7gxqqbqqoclpmy

24 November 2022