List of works - Hannie Kremer

MPP1 links the Usher protein network and the Crumbs protein complex in the retina

scientific article

Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing

scientific article

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

scientific article

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation

scientific article

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

article

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

scientific article published on 2 June 2004

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

scientific article

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.

scientific article published on 30 September 2008

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

scientific article published on 25 June 2008

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

scientific article

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations

scientific article published in May 2005

Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation

scientific article published in September 2005

Phenotype description of a novel DFNA9/COCH mutation, I109T.

scientific article published in May 2007

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

scientific article published on June 26, 2010

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

scientific article

Interfering with UDP-GlcNAc metabolism and heparan sulfate expression using a sugar analogue reduces angiogenesis

scientific article published on 03 September 2013

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

scientific article published in April 2003

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family

scientific article

The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss

scientific article published in October 2007

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

scientific article published in September 2004

BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy

scientific article

Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina

scientific article published on July 13, 2011

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

article

Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

scientific article published in April 2004

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.

scientific article published in March 2008

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

scientific journal article

The benign concentric annular macular dystrophy locus maps to 6p12.3-q16

scientific article (publication date: 2004)

Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)

scientific article published on 01 August 2006

Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.

scientific article published in May 2009

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

scientific article

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

scientific article published on March 23, 2010

NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish

scientific article

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

scientific journal article

Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis

scientific article published on March 8, 2014

Poor Splice-Site Recognition in a Humanized Zebrafish Knockin Model for the Recurrent Deep-Intronic c.7595-2144A>G Mutation in USH2A

article

The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically

scientific article published on 25 April 2012

Usherin defects lead to early-onset retinal dysfunction in zebrafish

scientific article published on 16 May 2018

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

scientific article published on 15 June 2016

Cochleovestibular and ocular features in a Dutch DFNA11 family

scientific article published in April 2006

Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.

scientific article published on 15 April 2009

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

scientific article

Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.

scientific article published in April 2009

Similar phenotypes caused by mutations in OTOG and OTOGL.

scientific article

Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.

scientific article published on 19 March 2007

A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment

scientific article published in March 2004

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

scientific article published on 12 January 2017

Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W

scientific article published on 06 December 2006

CiliaCarta: An integrated and validated compendium of ciliary genes

scientific article published on 16 May 2019

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

scientific article published on 15 December 2016

Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations

scientific article published in July 2004

List of works by Hannie Kremer

MPP1 links the Usher protein network and the Crumbs protein complex in the retina

Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11).

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

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.

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

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

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations

Audiometric, vestibular, and genetic aspects of a DFNA9 family with a G88E COCH mutation

Phenotype description of a novel DFNA9/COCH mutation, I109T.

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;

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

Interfering with UDP-GlcNAc metabolism and heparan sulfate expression using a sugar analogue reduces angiogenesis

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family

The contribution of GJB2 (Connexin 26) 35delG to age-related hearing impairment and noise-induced hearing loss

Variable clinical features in patients with CDH23 mutations (USH1D-DFNB12).

BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy

Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: Clinical and psychometric data and results of linkage analysis

Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.

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

The benign concentric annular macular dystrophy locus maps to 6p12.3-q16

Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)

Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1.

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

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis

Poor Splice-Site Recognition in a Humanized Zebrafish Knockin Model for the Recurrent Deep-Intronic c.7595-2144A>G Mutation in USH2A

The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically

Usherin defects lead to early-onset retinal dysfunction in zebrafish

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa.

Cochleovestibular and ocular features in a Dutch DFNA11 family

Vestibular impairment in a Dutch DFNA15 family with an L289F mutation in POU4F3.

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

Mild and variable audiometric and vestibular features in a third DFNA15 family with a novel mutation in POU4F3.

Similar phenotypes caused by mutations in OTOG and OTOGL.

Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.

A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment

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

Clinical characteristics of a Dutch DFNA9 family with a novel COCH mutation, G87W

CiliaCarta: An integrated and validated compendium of ciliary genes

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

Longitudinal phenotypic analysis in patients with connexin 26 (GJB2) (DFNB1) and connexin 30 (GJB6) mutations

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