Varaico: Literature-Extracted Genetic Variants

Gene:SDHD
Variant:p.M1I
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SDHD

NM_003002.4:p.M1I

Associated Papers

A Novel Targeted Sequence for Chromosome 11p15.5 Maternal Loss in SDHD-Related Paragangliomas.

Lai HP et al.

Genes, Chromosomes & Cancer, 2026

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

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 › Missense_Variants

Missed diagnosis or misdiagnosis: Common pitfalls in genetic testing.

Shaw T et al.

Singapore Medical Journal, 2023

Cost-minimization analysis of sequential genetic testing versus targeted next-generation sequencing gene panels in patients with pheochromocytoma and paraganglioma.

Pipitprapat W et al.

Annals of Medicine, 2021

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

Yonamine M et al.

Cancers, 2021

Characteristics and genetic testing outcomes of patients with clinically suspected paraganglioma/pheochromocytoma (PGL/PCC) syndrome in Singapore.

Ting KR et al.

Hereditary Cancer in Clinical Practice, 2020

Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Unknown Author

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32546831 (PubMed )
Supplement: NIHMS1615423-supplement-Supplementary_Table_2.xlsx › Sheet1

Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches.

Gieldon L et al.

Cancers, 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

Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China.

Zhu WD et al.

European Journal of Medical Genetics, 2015

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

Recurring MLH1 deleterious mutations in unrelated Chinese Lynch syndrome families in Singapore.

Yap HL et al.

Familial Cancer, 2009

Cervical paragangliomas: is SDH genetic analysis systematically required?

Fakhry N et al.

European Archives of Oto-rhino-laryngology : Official Journal of the European Federation of Oto-rhino-laryngological Societies (eufos) : Affiliated With the German Society for Oto-rhino-laryngology - Head and Neck Surgery, 2008

Novel SDHD germ-line mutations in pheochromocytoma patients.

Neumayer C et al.

European Journal of Clinical Investigation, 2007

A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency.

Ma RC et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2007

Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

Benn DE et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

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

Schiavi F et al.

Jama, 2005

Mutations of the SDHB and SDHD genes.

Pawlu C et al.

Familial Cancer, 2005

Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect?

Lee SC et al.

The Laryngoscope, 2003

A novel mutation in the SDHD gene in a family with inherited paragangliomas--implications of genetic diagnosis for follow up and treatment.

Renard L et al.

Head & Neck, 2003

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

Badenhop RF et al.

Genes, Chromosomes & Cancer, 2001

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