Lista de obras -

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

artículo científico publicado en 2016

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 2006

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

scientific journal article

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

artículo científico publicado en 2006

Auditory brainstem response prior to MRI compared to standalone MRI in the detection of vestibular schwannoma: A modelling study

artículo científico publicado en 2021

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Causes of permanent childhood hearing impairment ⬇️

artículo científico publicado el 1 de febrero de 2011

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2012

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

artículo científico publicado en 2021

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

artículo científico publicado en 2011

External ear anomalies and hearing impairment in Noonan Syndrome

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico

Genetics of hereditary head and neck paragangliomas

artículo científico publicado en 2013

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

artículo científico publicado en 2011

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

artículo científico publicado en 2013

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico

Insufficient evidence for a role of SERPINF1 in otosclerosis

artículo científico publicado en 2019

Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy

artículo científico publicado en 2014

Karyotype-specific ear and hearing problems in young adults with Turner syndrome and the effect of oxandrolone treatment

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2018

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

artículo científico publicado en 2015

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Paediatric Cochlear Implantation in Patients with Waardenburg Syndrome

artículo científico publicado en 2016

Phenotypes of two Dutch DFNA3 families with mutations in GJB2.

artículo científico publicado en 2011

Potential savings in the diagnosis of vestibular schwannoma

artículo científico

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

artículo científico publicado el 26 de junio de 2010

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

artículo científico publicado en 2015

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

artículo científico publicado en 2011

Pulsatile Tinnitus: Differential Diagnosis and Radiological Work-Up

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Risk factors for complications in cochlear implant surgery

artículo científico publicado en 2018

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

artículo científico publicado en 2009

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

artículo científico publicado el 11 de enero de 2011

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

artículo científico publicado en 2010

Similar phenotypes caused by mutations in OTOG and OTOGL.

artículo científico publicado en 2014

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

artículo científico publicado en 2016

The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients

artículo científico publicado en 2009

The phenotype of SDHB germline mutation carriers: a nationwide study

artículo científico publicado en 2017

Lista de obras de

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

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss

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

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

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

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

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

Auditory brainstem response prior to MRI compared to standalone MRI in the detection of vestibular schwannoma: A modelling study

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

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

Causes of permanent childhood hearing impairment ⬇️

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

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

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

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

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

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

External ear anomalies and hearing impairment in Noonan Syndrome

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

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

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

Genetics of hereditary head and neck paragangliomas

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

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

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

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

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

Insufficient evidence for a role of SERPINF1 in otosclerosis

Intrafamilial variable hearing loss in TRPV4 induced spinal muscular atrophy

Karyotype-specific ear and hearing problems in young adults with Turner syndrome and the effect of oxandrolone treatment

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

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

Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.

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

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

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

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

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

Paediatric Cochlear Implantation in Patients with Waardenburg Syndrome

Phenotypes of two Dutch DFNA3 families with mutations in GJB2.

Potential savings in the diagnosis of vestibular schwannoma

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in &lt;i&gt;TMC1&lt;/i&gt; ⬇️

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

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

Pulsatile Tinnitus: Differential Diagnosis and Radiological Work-Up

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

Risk factors for complications in cochlear implant surgery

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

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

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

Similar phenotypes caused by mutations in OTOG and OTOGL.

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

The first Dutch SDHB founder deletion in paraganglioma-pheochromocytoma patients

The phenotype of SDHB germline mutation carriers: a nationwide study

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