Lista de obras -

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

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

scientific journal article

Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family

artículo científico publicado en 2011

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

artículo científico publicado en 2017

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

Grxcr2 is required for stereocilia morphogenesis in the cochlea

artículo científico publicado en 2018

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

artículo científico publicado en 2018

High-resolution genomic profiling of pediatric lymphoblastic lymphomas reveals subtle differences with pediatric acute lymphoblastic leukemias in the B-lineage

artículo científico publicado en 2009

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

artículo científico publicado en 2010

Hypermutation in Mantle Cell Lymphoma Does Not Indicate a Clinical or Biological Sub Entity. ⬇️

artículo científico publicado en 2006

Hypermutation in mantle cell lymphoma does not indicate a clinical or biological subentity

artículo científico publicado en 2009

Increased vascularization predicts favorable outcome in follicular lymphoma

artículo científico publicado en 2005

Integrated CGH- and Epression Array Profiling of Mantle Cell Lymphoma. ⬇️

artículo científico publicado en 2006

Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes.

artículo científico publicado en 2008

Lack of Bcl-2 expression in follicular lymphoma may be caused by mutations in the BCL2 gene or by absence of the t(14;18) translocation

artículo científico publicado en 2005

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 ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

artículo científico publicado en 2012

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

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

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 chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization

scientific article published on 21 October 2004

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

Promoter methylation of PARG1, a novel candidate tumor suppressor gene in mantle-cell lymphomas

artículo científico publicado en 2007

Quantitative microsatellite analysis to delineate the commonly deleted region 1p22.3 in mantle cell lymphomas.

artículo científico publicado en 2006

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

artículo científico publicado en 2009

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

Lista de obras de

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

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

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

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. ⬇️

Grxcr2 is required for stereocilia morphogenesis in the cochlea

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

High-resolution genomic profiling of pediatric lymphoblastic lymphomas reveals subtle differences with pediatric acute lymphoblastic leukemias in the B-lineage

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

Hypermutation in Mantle Cell Lymphoma Does Not Indicate a Clinical or Biological Sub Entity. ⬇️

Hypermutation in mantle cell lymphoma does not indicate a clinical or biological subentity

Increased vascularization predicts favorable outcome in follicular lymphoma

Integrated CGH- and Epression Array Profiling of Mantle Cell Lymphoma. ⬇️

Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes.

Lack of Bcl-2 expression in follicular lymphoma may be caused by mutations in the BCL2 gene or by absence of the t(14;18) translocation

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

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

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

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 chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization

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

Promoter methylation of PARG1, a novel candidate tumor suppressor gene in mantle-cell lymphomas

Quantitative microsatellite analysis to delineate the commonly deleted region 1p22.3 in mantle cell lymphomas.

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

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

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