Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.M1V
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SDHD

NM_003002.4:p.M1V

Associated Papers

Estimated global prevalence of genetic carriers of hereditary pheochromocytoma-paraganglioma syndrome in a large multiethnic genomic database.

Charoenngam N et al.

European Journal of Endocrinology, 2025

40974092 (PubMed )
Supplement: lvaf191_supplementary_data.docx

Genetic predisposition to pheochromocytoma and paraganglioma: 21 years of experience in the field.

Cardot-Bauters C et al.

Annales D'endocrinologie, 2024

Succinate dehydrogenase variants in paraganglioma: why are B subunit variants 'bad'?

Gruber LM et al.

Endocrine Oncology (bristol, England), 2023

37434649 (PubMed )
Supplement: supplementary_table_1.xlsx › Truncating_Variants

High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas.

Guha A et al.

Frontiers in Endocrinology, 2023

Prevalence of Germline Variants in a Large Cohort of Japanese Patients with Pheochromocytoma and/or Paraganglioma.

Yonamine M et al.

Cancers, 2021

Genetic Variants in Patients with Multiple Head and Neck Paragangliomas: Dilemma in Management.

Guha A et al.

Biomedicines, 2021

Germline DNA Sequencing Reveals Novel Mutations Predictive of Overall Survival in a Cohort of Patients with Pancreatic Cancer.

Goldstein JB et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2020

Tumor multifocality with vagus nerve involvement as a phenotypic marker of SDHD mutation in patients with head and neck paragangliomas: A 18 F-FDOPA PET/CT study.

Amodru V et al.

Head & Neck, 2019

Genetic and epigenetic alterations of SDH genes in patients with sporadic succinate dehydrogenase-deficient gastrointestinal stromal tumors.

Shi SS et al.

Pathology International, 2019

Germline SDHA mutations in children and adults with cancer.

Dubard Gault M et al.

Cold Spring Harbor Molecular Case Studies, 2018

Tumour risks and genotype-phenotype correlations associated with germline variants in succinate dehydrogenase subunit genes SDHB, SDHC and SDHD.

Andrews KA et al.

Journal of Medical Genetics, 2018

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

Mutations and polymorphisms in the SDHB, SDHD, VHL, and RET genes in sporadic and familial pheochromocytomas.

Waldmann J et al.

Endocrine, 2009

Novel SDHD germ-line mutations in pheochromocytoma patients.

Neumayer C et al.

European Journal of Clinical Investigation, 2007

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

Schiavi F et al.

Jama, 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

Phenotypic dichotomy in mitochondrial complex II genetic disorders.

Baysal BE et al.

Journal of Molecular Medicine (berlin, Germany), 2001

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

Braun S et al.

Anticancer Research, 0

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