Search Results - "JANSEN, Jeroen C"
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Long-term in vitro 2D-culture of SDHB and SDHD-related human paragangliomas and pheochromocytomas
Published in PloS one (30-09-2022)“…The neuroendocrine tumours paraganglioma and pheochromocytoma (PPGLs) are commonly associated with succinate dehydrogenase (SDH) gene variants, but no human…”
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2
SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
Published in The lancet oncology (01-04-2010)“…Summary Background Paragangliomas and phaeochromocytomas are neuroendocrine tumours associated frequently with germline mutations of SDHD, SDHC , and SDHB …”
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3
Long-term voice outcomes of laryngeal framework surgery for unilateral vocal fold paralysis
Published in European archives of oto-rhino-laryngology (01-04-2022)“…Objective To evaluate the short- and long-term voice outcomes after unilateral medialization thyroplasty (MT) and unilateral medialization thyroplasty with…”
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4
CD44 Expression Predicts Local Recurrence after Radiotherapy in Larynx Cancer
Published in Clinical cancer research (01-11-2010)“…To find molecular markers from expression profiling data to predict recurrence of laryngeal cancer after radiotherapy. We generated gene expression data on…”
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Evaluation of the modified Pittsburgh classification for predicting the disease‐free survival outcome of squamous cell carcinoma of the external auditory canal
Published in Head & neck (01-12-2020)“…Background Squamous cell carcinoma (SCC) of the external auditory canal (EAC) is a rare disease, which is commonly classified with the modified Pittsburgh…”
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Proton Radiotherapy for Vestibular Schwannomas in Patients with NF2-Related Schwannomatosis: A Case Series
Published in Current oncology (Toronto) (01-03-2023)“…(1) Background: This study aimed to evaluate the efficacy and treatment-related toxicity of proton radiotherapy (PRT) for vestibular schwannoma (VS) in…”
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SDHAF2-Linked Metastatic Paraganglioma: A Case Report with Implications for Counseling and Follow-Up of Pathogenic SDHAF2 Variant Carriers
Published in Case reports in otolaryngology (20-03-2024)“…Head and neck paragangliomas are slow growing and highly vascular neuroendocrine tumors. It is currently assumed that SDHAF2 variants exclusively cause benign…”
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Efficient Viral Transduction in Fetal and Adult Human Inner Ear Explants with AAV9-PHP.B Vectors
Published in Biomolecules (Basel, Switzerland) (10-06-2022)“…Numerous studies have shown the recovery of auditory function in mouse models of genetic hearing loss following AAV gene therapy, yet translation to the clinic…”
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A ‘Final Destination injury’: Penetrating trauma of the neck and a pneumomediastinum by a metal part shot from a lawnmower
Published in Trauma case reports (01-02-2021)“…Outside of war regions, penetrating neck injury is rare. Penetrating neck injury due to a lawnmower has never been described, despite the annual 74.000…”
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Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas
Published in Oncotarget (28-02-2017)“…Germline mutations in the succinate dehydrogenase (SDHA, SDHB, SDHC, SDHD, SDHAF2) or Von Hippel-Lindau (VHL) genes cause hereditary…”
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11
Mutation analysis of SDHB and SDHC: novel germline mutations in sporadic head and neck paraganglioma and familial paraganglioma and/or pheochromocytoma
Published in BMC medical genetics (11-01-2006)“…Germline mutations of the SDHD, SDHB and SDHC genes, encoding three of the four subunits of succinate dehydrogenase, are a major cause of hereditary…”
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Low penetrance of a SDHB mutation in a large Dutch paraganglioma family
Published in BMC medical genetics (11-06-2010)“…Germline mutations of the succinate dehydrogenase subunit B gene (SDHB) predispose carriers for paragangliomas, and current estimates of the chance of mutation…”
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13
Automated 2‐Dimensional Measurement of Vestibular Schwannoma: Validity and Accuracy of an Artificial Intelligence Algorithm
Published in Otolaryngology-head and neck surgery (01-12-2023)“…Objective Validation of automated 2‐dimensional (2D) diameter measurements of vestibular schwannomas on magnetic resonance imaging (MRI). Study Design…”
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The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients
Published in BMC medical genetics (15-04-2009)“…Germline mutations of the tumor suppressor genes SDHB, SDHC and SDHD play a major role in hereditary paraganglioma and pheochromocytoma. These three genes…”
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Jugular and vagal paragangliomas: Systematic study of management with surgery and radiotherapy
Published in Head & neck (01-08-2013)“…Background The definitive treatment for head and neck paraganglioma (PG) is surgical excision. Unfortunately, surgery, particularly of vagal paraganglioma…”
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SDHB variant type impacts phenotype and malignancy in pheochromocytoma-paraganglioma
Published in Journal of medical genetics (01-01-2023)“…Traditional genotype-phenotype correlations for the succinate dehydrogenase-complex II (SDH) genes link variants to thoracic-abdominal…”
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Vestibular Complaints Impact on the Long-Term Quality of Life of Vestibular Schwannoma Patients
Published in Otology & neurotology (01-02-2023)“…To analyze the effect of dizziness-related symptoms on the long-term quality of life (QoL) of patients with unilateral vestibular schwannoma. In this…”
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Long-Term Quality of Life of Vestibular Schwannoma Patients: A Longitudinal Analysis
Published in Otolaryngology-head and neck surgery (01-02-2023)“…Objective Vestibular schwannoma management aims to maintain optimal quality of life (QoL) while preventing severe sequelae of the tumor or its treatment. This…”
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Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum
Published in The journal of clinical endocrinology and metabolism (01-10-2015)“…Context: Mutations in genes encoding the subunits of succinate dehydrogenase (SDH) can lead to pheochromocytoma/paraganglioma formation. However, SDH mutations…”
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The effect of intratympanic gentamicin as a prehabilitation strategy for objective and subjective vestibular function in patients undergoing microsurgery for a unilateral vestibular schwannoma
Published in European archives of oto-rhino-laryngology (01-01-2024)“…Objective To review the literature on intratympanic gentamicin treatment as prehabilitation for patients undergoing surgery for a unilateral vestibular…”
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