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Authors whose works are in public domain in at least one jurisdiction

List of works by Henricus Kunst

1-50 of 54 results

SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma

scientific article

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

scientific article

SDHAF2 (PGL2-SDH5) and Hereditary Head and Neck Paraganglioma

scientific article published on January 11, 2011

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment

scientific article

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction

scientific article

Inactivation of SDH and FH cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors.

scientific article published on 12 October 2015

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment

scientific article

Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations

scientific article published on 23 July 2011

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

scientific article published on 21 December 2016

Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment

scientific article

A novel TECTA mutation in a Dutch DFNA8/12 family confirms genotype-phenotype correlation

scientific article

Genetics of hereditary head and neck paragangliomas

scientific article published on November 30, 2013

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

scientific article published on 26 March 2015

Genotype-specific abnormalities in mitochondrial function associate with distinct profiles of energy metabolism and catecholamine content in pheochromocytoma and paraganglioma.

scientific article published on 30 May 2013

Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5

scientific article

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1

scientific article published on June 26, 2010

Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans

scientific article

Causes of permanent childhood hearing impairment

scientific article published on February 1, 2011

A Comparison of Surgical Treatments for Superior Semicircular Canal Dehiscence: A Systematic Review

scientific article

Gamma Knife radiosurgery for vestibular schwannomas: evaluation of tumor control and its predictors in a large patient cohort in The Netherlands

scientific article published on 02 October 2015

Clinical Aspects of SDHA-Related Pheochromocytoma and Paraganglioma: A Nationwide Study.

scientific article published on 21 November 2017

The phenotype of SDHB germline mutation carriers: a nationwide study

scientific article published on 10 May 2017

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2

scientific journal article

Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1

scientific article

The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients

scientific article

External ear anomalies and hearing impairment in Noonan Syndrome

scientific article published on April 1, 2015

Audiological evaluation of affected members from a Dutch DFNA8/12 (TECTA) family

scientific article

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease

scientific article

A new bone-anchored hearing implant: short-term retrospective data on implant survival and subjective benefit

scientific article published on January 29, 2013

Loss of maternal chromosome 11 is a signature event in SDHAF2, SDHD, and VHL-related paragangliomas, but less significant in SDHB-related paragangliomas

scientific article published on 14 January 2017

Nonsyndromic hearing loss caused by USH1G mutations: widening the USH1G disease spectrum

scientific article

Congenital oval or round window anomaly with or without abnormal facial nerve course: surgical results for 15 ears

scientific article published on July 2012

Similar phenotypes caused by mutations in OTOG and OTOGL.

scientific article

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment

scientific article published on 12 January 2017

Proximal symphalangism, hyperopia, conductive hearing impairment, and the NOG gene: 2 new mutations

scientific article published in June 2011

A Retrospective Cohort Study on the Influence of Comorbidity on Soft Tissue Reactions, Revision Surgery, and Implant Loss in Bone-anchored Hearing Implants

scientific article published on June 1, 2015

Phenotypes of Two Dutch DFNA3 Families with Mutations in GJB2

scientific article published on March 1, 2011

Heterozygous missense variants of LMX1A lead to nonsyndromic hearing impairment and vestibular dysfunction

scientific article published on 12 May 2018

Gamma Knife radiosurgery for treatment of growing vestibular schwannomas in patients with neurofibromatosis Type 2: a matched cohort study with sporadic vestibular schwannomas.

scientific article published on 27 January 2017

Feasibility of a wait-and-scan period as initial management strategy for head and neck paraganglioma.

scientific article

Intrafamilial Variable Hearing Loss in TRPV4 Induced Spinal Muscular Atrophy

scientific article published on June 24, 2014

Karyotype-Specific Ear and Hearing Problems in Young Adults With Turner Syndrome and the Effect of Oxandrolone Treatment

scientific article published on October 1, 2014

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse

scientific article published on 28 June 2018

Retreatment of vestibular schwannoma with Gamma Knife radiosurgery: clinical outcome, tumor control, and review of literature

scientific article published on 6 October 2017

Risk factors for complications in cochlear implant surgery

scientific article published on 10 February 2018

Pulsatile Tinnitus: Differential Diagnosis and Radiological Work-Up

scientific article

Cochlear Implantation in Patients With Usher Syndrome Type IIa Increases Performance and Quality of Life

scientific article published on 11 May 2017

Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

scientific article published on 17 April 2017

Potential savings in the diagnosis of vestibular schwannoma

scientific article published on 18 August 2017

Diagnosing necrotizing external otitis on CT and MRI: assessment of pattern of extension

scientific article published in 2021