Associated Papers
From Text to Translation: Using Language Models to Prioritize Variants for Clinical Review.
Li W et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.
van der Schoot V et al.
European Journal of Human Genetics : Ejhg, 2022
Quantifying evidence toward pathogenicity for rare phenotypes: The case of succinate dehydrogenase genes, SDHB and SDHD.
Garrett A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Long-term in vitro 2D-culture of SDHB and SDHD-related human paragangliomas and pheochromocytomas.
Bayley JP et al.
Plos One, 2022
Consolidating biallelic SDHD variants as a cause of mitochondrial complex II deficiency.
Lin S et al.
European Journal of Human Genetics : Ejhg, 2021
Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.
Yonamine M et al.
Cancers, 2021
Biochemically Silent Sympathetic Paraganglioma, Pheochromocytoma, or Metastatic Disease in SDHD Mutation Carriers.
Dreijerink KMA et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Metabolome-guided genomics to identify pathogenic variants in isocitrate dehydrogenase, fumarate hydratase, and succinate dehydrogenase genes in pheochromocytoma and paraganglioma.
Richter S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Increased Mortality in SDHB but Not in SDHD Pathogenic Variant Carriers.
Rijken JA et al.
Cancers, 2019
Genetic and epigenetic patterns in patients with the head-and-neck paragangliomas associate with differential clinical characteristics.
Chen H et al.
Journal of Cancer Research and Clinical Oncology, 2017
Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas.
Hoekstra AS et al.
Oncotarget, 2017
No evidence for increased mortality in SDHD variant carriers compared with the general population.
van Hulsteijn LT et al.
European Journal of Human Genetics : Ejhg, 2015
Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors.
Hoekstra AS et al.
Oncotarget, 2015
Paraganglioma and pheochromocytoma upon maternal transmission of SDHD mutations.
Bayley JP et al.
Bmc Medical Genetics, 2014
No difference in phenotype of the main Dutch SDHD founder mutations.
van Hulsteijn LT et al.
Clinical Endocrinology, 2013
High prevalence of occult paragangliomas in asymptomatic carriers of SDHD and SDHB gene mutations.
Heesterman BL et al.
European Journal of Human Genetics : Ejhg, 2013
Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas.
Wang CP et al.
Oral Oncology, 2012
Is the c.3G>C mutation in the succinate dehydrogenase subunit D (SDHD) gene due to a founder effect in Chinese head and neck paraganglioma patients?
Zha Y et al.
The Laryngoscope, 2011
SDH mutations in tumorigenesis and inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma syndromes.
Pasini B et al.
Journal of Internal Medicine, 2009
The pheochromocytoma and paraganglioma syndrome: founder effects and the PGL 1 syndrome.
Opocher G et al.
Annales D'endocrinologie, 2009
Impact of screening kindreds for SDHD p.Cys11X as a common mutation associated with paraganglioma syndrome type 1.
Peczkowska M et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Clinical and molecular progress in hereditary paraganglioma.
Baysal BE
Journal of Medical Genetics, 2008
Novel SDHD germ-line mutations in pheochromocytoma patients.
Neumayer C et al.
European Journal of Clinical Investigation, 2007
Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma.
Korpershoek E et al.
Endocrine-related Cancer, 2007
Basic fibroblast growth factor and fibroblastic growth factor receptor-1 may contribute to head and neck paraganglioma development by an autocrine or paracrine mechanism.
Douwes Dekker PB et al.
Human Pathology, 2007
Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience.
Korpershoek E et al.
Annals of the New York Academy of Sciences, 2006
Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.
Benn DE et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma.
Bayley JP et al.
Bmc Medical Genetics, 2006
Phenotype variability of neural crest derived tumours in six Italian families segregating the same founder SDHD mutation Q109X.
Simi L et al.
Journal of Medical Genetics, 2005
Mutation analysis of the SDHD gene in four kindreds with familial paraganglioma: description of one novel germline mutation.
Velasco A et al.
Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 2005
No evidence for involvement of SDHD in neuroblastoma pathogenesis.
De Preter K et al.
Bmc Cancer, 2004
Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.
Riemann K et al.
Cancer Genetics and Cytogenetics, 2004
p53 alterations and their relationship to SDHD mutations in parasympathetic paragangliomas.
van Nederveen FH et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2003
Pheochromocytoma: the expanding genetic differential diagnosis.
Bryant J et al.
Journal of the National Cancer Institute, 2003
Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect.
Astrom K et al.
Human Genetics, 2003
The pressure rises: update on the genetics of phaeochromocytoma.
Maher ER et al.
Human Molecular Genetics, 2002
Hereditary paraganglioma targets diverse paraganglia.
Baysal BE
Journal of Medical Genetics, 2002
Clinical report on the L95P mutation in a Dutch family with paraganglioma.
Cremers CW et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2002
Frequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma.
Dannenberg H et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2002
Phenotypic dichotomy in mitochondrial complex II genetic disorders.
Baysal BE et al.
Journal of Molecular Medicine (berlin, Germany), 2001
Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.
Taschner PE et al.
Genes, Chromosomes & Cancer, 2001
Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas.
Braun S et al.
Anticancer Research, 0