Lista de obras -

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

scientific journal article

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

artículo científico publicado en 2020

A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family

artículo científico publicado en 2014

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

A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment

artículo científico publicado en 2012

AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9

scientific article published in 2021

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

scientific journal article

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

artículo científico publicado en 2009

Audioprofile-Directed Successful Mutation Analysis in a DFNA2/KCNQ4 (p.Leu274His) Family ⬇️

artículo científico publicado el 1 de abril de 2011

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

artículo científico publicado en 2017

Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing

artículo científico publicado en 2021

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

artículo científico publicado en 2018

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

artículo científico publicado en 2014

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

artículo científico publicado en 2011

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

artículo científico publicado en 2011

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

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

artículo científico publicado en 2007

Involvement of lipooligosaccharides of Haemophilus influenzae and Neisseria meningitidis in defensin-enhanced bacterial adherence to epithelial cells

artículo científico publicado en 2003

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 OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

artículo científico publicado en 2012

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 ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

artículo científico publicado en 2008

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

artículo científico publicado en 2008

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

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

artículo científico publicado en 2015

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

artículo científico publicado en 2016

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

artículo científico publicado en 2013

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

Lista de obras de

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

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

A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family

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

A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment

AON-based degradation of c.151C&gt;T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9

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

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

Audioprofile-Directed Successful Mutation Analysis in a DFNA2/KCNQ4 (p.Leu274His) Family ⬇️

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

Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing

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

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

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

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

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

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

Involvement of lipooligosaccharides of Haemophilus influenzae and Neisseria meningitidis in defensin-enhanced bacterial adherence to epithelial cells

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 OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

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

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

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

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

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

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome.

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

AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9

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