Search Results - "Kunst, Henricus P. M."
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Next-Generation Sequencing Identifies Mutations of SMPX, which Encodes the Small Muscle Protein, X-Linked, as a Cause of Progressive Hearing Impairment
Published in American journal of human genetics (13-05-2011)“…In a Dutch family with an X-linked postlingual progressive hearing impairment, a critical linkage interval was determined to span a region of 12.9 Mb flanked…”
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2
Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction
Published in American journal of human genetics (09-04-2010)“…We identified overlapping homozygous regions within the DFNB84 locus in a nonconsanguineous Dutch family and a consanguineous Moroccan family with…”
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3
International consensus on initial screening and follow-up of asymptomatic SDHx mutation carriers
Published in Nature reviews. Endocrinology (01-07-2021)“…Approximately 20% of patients diagnosed with a phaeochromocytoma or paraganglioma carry a germline mutation in one of the succinate dehydrogenase ( SDHx )…”
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Patient-preferred outcomes in patients with vestibular schwannoma: a qualitative content analysis of symptoms, side effects and their impact on health-related quality of life
Published in Quality of life research (01-10-2023)“…Purpose During counseling and management of patients with vestibular schwannoma (VS), the emphasis is shifting from tumour control and nerve preservation…”
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Gamma Knife radiosurgery for vestibular schwannomas: evaluation of tumor control and its predictors in a large patient cohort in The Netherlands
Published in Journal of neurosurgery (01-06-2016)“…OBJECT The authors of this study sought to assess tumor control and complication rates in a large cohort of patients who underwent Gamma Knife radiosurgery…”
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The resilience of the inner ear—vestibular and audiometric impact of transmastoid semicircular canal plugging
Published in Journal of neurology (01-10-2022)“…Background Certain cases of superior semicircular canal dehiscence or benign paroxysmal positional vertigo can be treated by plugging of the affected…”
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Untreated Vestibular Schwannoma: Analysis of the Determinants of Growth
Published in Cancers (04-11-2024)“…The growth rate of sporadic VS varies considerably, posing challenges for consistent clinical management. This systematic review examines data on factors…”
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Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment
Published in American journal of human genetics (12-02-2010)“…We identified overlapping homozygous regions within the DFNB25 locus in two Dutch and ten Pakistani families with sensorineural autosomal-recessive…”
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Defining tumor growth in vestibular schwannomas: a volumetric inter-observer variability study in contrast-enhanced T1-weighted MRI
Published in Neuroradiology (01-11-2024)“…Purpose For patients with vestibular schwannomas (VS), a conservative observational approach is increasingly used. Therefore, the need for accurate and…”
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Skull-Base Chondrosarcoma: A Systematic Review of the Role of Postoperative Radiotherapy
Published in Cancers (21-02-2024)“…Surgery and radiotherapy are key elements to the treatment of skull-base chondrosarcomas; however, there is currently no consensus regarding whether or not…”
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Skull Base Tumors: The Equilibrium between Curation and Preservation
Published in Cancers (19-05-2023)“…Tumors located at the skull base constitute a particular challenge for medical teams [...]…”
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Feasibility of a wait‐and‐scan period as initial management strategy for head and neck paraganglioma
Published in Head & neck (01-10-2017)“…Background The main goal of head and neck paraganglioma (PGL) management is reduction of treatment‐induced and tumor‐induced complications. In the current…”
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TcMEP threshold change is superior to A-train detection when predicting facial nerve outcome in CPA tumour surgery
Published in Acta neurochirurgica (01-05-2020)“…Object Surgery of tumours in the cerebellopontine angle (CPA) can lead to loss of facial nerve function. Different methods of intra-operative nerve monitoring…”
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A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis
Published in Human genetics (01-04-2022)“…In this study, we investigated the association of ACAN variants with otosclerosis, a frequent cause of hearing loss among young adults. We sequenced the…”
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Radiomics-Based Prediction of Long-Term Treatment Response of Vestibular Schwannomas Following Stereotactic Radiosurgery
Published in Otology & neurotology (01-12-2020)“…Stereotactic radiosurgery (SRS) is one of the treatment modalities for vestibular schwannomas (VSs). However, tumor progression can still occur after…”
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Risk factors for complications in cochlear implant surgery
Published in European archives of oto-rhino-laryngology (01-04-2018)“…Purpose The objective of this study was to achieve uniform reporting of complications and failures in cochlear implantation, to analyze complications and…”
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SDHAF2 (PGL2-SDH5) and Hereditary Head and Neck Paraganglioma
Published in Clinical cancer research (15-01-2011)“…Hereditary head and neck paraganglioma (HNPGL) syndromes are associated with mutations in the SDHD(PGL1), SDHC(PGL3), and SDHB(PGL4) genes encoding succinate…”
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Development of a model to predict vestibular schwannoma growth: An opportunity to introduce new wait and scan strategies
Published in Clinical otolaryngology (01-01-2021)“…Objectives To develop a prediction model to predict vestibular schwannoma (VS) growth for patients in a wait and scan (W&S) strategy. Design Retrospective…”
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Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1
Published in Audiology & neurotology (2011)“…In a Dutch family with autosomal recessive hearing loss, genome-wide single-nucleotide polymorphism analysis mapped the genetic defect to the DFNB7/11 locus. A…”
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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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