Varaico: Literature-Extracted Genetic Variants

Gene:SDHB
Variant:p.L139P
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SDHB

NM_003000.3:p.L139P

Associated Papers

Head/neck paragangliomas: focus on tumor location, mutational status and plasma methoxytyramine.

Richter S et al.

Endocrine-related Cancer, 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

34906457 (PubMed )
Supplement: mmc1.xlsx › SupTable2_Variant_Counts

Genotype-phenotype associations in PPGLs in 59 patients with variants in SDHX genes.

Main AM et al.

Endocrine Connections, 2020

Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors.

Ibrahim A et al.

Archives of Pathology & Laboratory Medicine, 2020

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

Can subunit-specific phenotypes guide surveillance imaging decisions in asymptomatic SDH mutation carriers?

Tufton N et al.

Clinical Endocrinology, 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

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients.

Bennedbæk M et al.

Hereditary Cancer in Clinical Practice, 2016

Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.

Miettinen M et al.

The International Journal of Biochemistry & Cell Biology, 2014

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

Phaeochromocytomas and sympathetic paragangliomas.

Petri BJ et al.

The British Journal of Surgery, 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

High prevalence of SDHB mutations in head and neck paraganglioma in Belgium.

Persu A et al.

Journal of Hypertension, 2008

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

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

Mutations of the SDHB and SDHD genes.

Pawlu C et al.

Familial Cancer, 2005

Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.

Riemann K et al.

Cancer Genetics and Cytogenetics, 2004

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.

Douwes Dekker PB et al.

The Journal of Pathology, 2003

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

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

Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas.

Braun S et al.

Anticancer Research, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."