Lista de obras -

AGORA, a data- and biobank for birth defects and childhood cancer.

artículo científico publicado en 2016

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

scientific journal article

Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study

artículo científico publicado en 2002

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

artículo científico publicado en 2017

CHARGE syndrome: relations between behavioral characteristics and medical conditions.

artículo científico publicado en 2006

Causes of permanent childhood hearing impairment ⬇️

artículo científico publicado el 1 de febrero de 2011

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 aural atresia in 18q deletion or de Grouchy syndrome

artículo científico publicado en 2003

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

artículo científico publicado en 2018

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

artículo científico publicado en 2003

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

artículo científico publicado en 2011

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome

artículo científico publicado en 2008

External ear anomalies and hearing impairment in Noonan Syndrome

artículo científico publicado en 2015

Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability

artículo científico publicado en 2008

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

artículo científico publicado en 2011

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

artículo científico publicado en 2005

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. ⬇️

artículo científico publicado en 2011

Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations

artículo científico publicado en 2005

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

Incidental findings on cone beam computed tomography scans in cleft lip and palate patients

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family

artículo científico publicado en 2002

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

artículo científico publicado en 2018

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

artículo científico publicado en 2008

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

artículo científico publicado en 2008

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

artículo científico publicado en 2010

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss

artículo científico publicado en 2010

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

artículo científico publicado en 2004

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

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

artículo científico publicado en 2016

Paediatric Cochlear Implantation in Patients with Waardenburg Syndrome

artículo científico publicado en 2016

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

artículo científico publicado en 2004

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

Results of sonotubometry in testing eustachian tube ventilatory function in children with cleft palate

scientific article published on 01 May 2008

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

Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers

artículo científico publicado en 2005

[Psychosocial adjustment in children with a cleft lip and/or palate].

artículo científico publicado en 2009

Lista de obras de

AGORA, a data- and biobank for birth defects and childhood cancer.

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

Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study

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

CHARGE syndrome: relations between behavioral characteristics and medical conditions.

Causes of permanent childhood hearing impairment ⬇️

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

Congenital aural atresia in 18q deletion or de Grouchy syndrome

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH

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

Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome

External ear anomalies and hearing impairment in Noonan Syndrome

Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability

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

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human. ⬇️

Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations

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

Incidental findings on cone beam computed tomography scans in cleft lip and palate patients

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

Longitudinal and cross-sectional phenotype analysis in a new, large Dutch DFNA2/KCNQ4 family

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

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

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

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

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

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

Paediatric Cochlear Implantation in Patients with Waardenburg Syndrome

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

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

Results of sonotubometry in testing eustachian tube ventilatory function in children with cleft palate

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

Vestibular deterioration precedes hearing deterioration in the P51S COCH mutation (DFNA9): an analysis in 74 mutation carriers

[Psychosocial adjustment in children with a cleft lip and/or palate].