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MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma
TLDR
Germline mutations in MAX are responsible for 1.12% of PCC/PGL in patients without evidence of other known mutations and should be considered in the genetic work-up of these patients.
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Clinical Characterization of the Pheochromocytoma and Paraganglioma Susceptibility Genes SDHA, TMEM127, MAX, and SDHAF2 for Gene-Informed Prevention
TLDR
The SDHA, TMEM127, MAX, and SDHAF2 genes may contribute to hereditary pheochromocytoma and paraganglioma and Gene-specific prevention and/or early detection requires regular, systematic whole-body investigation.
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Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out.
TLDR
Evidence is given that clinical parameters can predict for mutation and help prioritize gene testing to reduce costs in HNP, and such strategy is cost-saving in the practice of genetics-based personalized health care.
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Frequent incidental discovery of phaeochromocytoma: data from a German cohort of 201 phaeochromocytoma.
TLDR
Owing to better availability and accessibility of imaging procedures, the number of incidentally discovered phaeochromocytoma is increasing and reaches nearly 30% in the study population.
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High prevalence of reduced fecundity in men with congenital adrenal hyperplasia.
TLDR
Poor semen parameters are common in male CAH patients and TARTs, most likely reflecting undertreatment, as well as inhibin B are important indicators of fecundity, while long-term glucocorticoid overtreatment also seems to contribute to low semen quality.
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Pheochromocytoma: presentation, diagnosis and treatment.
TLDR
This review provides an update on identification and management of pheochromocytomas, emphasizing current developments in diagnosis, including genetic testing, pathophysiology and treatment.
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Germline NF1 mutational spectra and loss-of-heterozygosity analyses in patients with pheochromocytoma and neurofibromatosis type 1.
TLDR
The germline NF1 mutational spectra comprise intragenic mutations and deletions in individuals with pheochromocytoma and NF1, and tended to cluster in the CSR over the RAS-GAP domain, suggesting that CSR plays a more prominent role in Individuals with NF1-pheochromcytoma than in NF1 individuals without this tumor.
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Total adrenal volume but not testicular adrenal rest tumor volume is associated with hormonal control in patients with 21-hydroxylase deficiency.
TLDR
Examination of adrenal masses and TARTs as well as factors stimulating tumor growth of orthotopic and ectopic adrenal tissue in 21-OHD provide indirect evidence that different factors regulate the growth of Orthotopic Adrenal tissue and ectopy adrenal remnants in T ARTs.
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Clinical Predictors and Algorithm for the Genetic Diagnosis of Pheochromocytoma Patients
TLDR
Clinical parameters can predict for mutation carriers and help prioritize gene testing to reduce costs in nonsyndromic pheochromocytoma presentations, and a 44.7% cost reduction in diagnostic process can be achieved.
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Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency
TLDR
The majority of patients with mild to moderate skeletal malformations, assessed by a novel scoring system, were compound heterozygous for missense mutations, whereas nearly all patients with severe malforms carried a major loss-of-function defect on one of the affected alleles.
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