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List of works by Guy Van Camp

A 1 bp deletion in the dual reading frame deafness gene LRTOMT causes a frameshift from the first into the second reading frame.

scientific article

A Contiguous Physical Map of the Pericentromeric Region of Chromosome 21q between D21Z1 and D21S13E

article by Wim Van Hul et al published March 1993 in Genomics

A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13.

scientific article published in August 2001

A Dutch family with progressive sensorineural hearing impairment linked to the DFNA2 region

scientific article published in January 2000

A Frame-Shift Mutation in CAV1 Is Associated with a Severe Neonatal Progeroid and Lipodystrophy Syndrome

scientific article published on 15 July 2015

A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family.

scientific article published on 5 September 2008

A common ancestor for COCH related cochleovestibular (DFNA9) patients in Belgium and The Netherlands bearing the P51S mutation.

scientific article published in January 2001

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment.

scientific article published on August 2001

A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear.

scientific article published on September 2015

A deafness mutation isolates a second role for the tectorial membrane in hearing

scientific article

A dominant-negative GFI1B mutation in the gray platelet syndrome

scientific article

A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.

scientific article

A genome-wide analysis identifies genetic variants in the RELN gene associated with otosclerosis

scientific article

A genome-wide analysis of population structure in the Finnish Saami with implications for genetic association studies

scientific article

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

scientific article

A genotype-phenotype correlation with gender-effect for hearing impairment caused by TECTA mutations

scientific article

A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

scientific article published on April 2009

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

scientific article

A mutation in HOXA2 is responsible for autosomal-recessive microtia in an Iranian family.

scientific article

A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene

scientific article published on 26 June 2006

A new locus for otosclerosis, OTSC10, maps to chromosome 1q41-44

scientific article published on 7 April 2011

A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9.

scientific article published on 26 January 2008

A new perspective on the genetics of keratoconus: why have we not been more successful?

scientific article published on 7 November 2017

A new, easy, and rapid high-throughput detection method for the common GJB2 (CX26), 35delG mutation

scientific article published in January 2007

A novel DFNA5 mutation does not cause hearing loss in an Iranian family.

scientific article

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression.

scientific article

A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families

scientific article published on 19 November 2007

A novel Z-score-based method to analyze candidate genes for age-related hearing impairment

scientific article published on April 2004

A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment.

scientific article published in July 2005

A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3.

scientific article published on January 2004

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p

scientific article

A novel missense mutation in the C2C domain of otoferlin causes profound hearing impairment in an Omani family with auditory neuropathy

scientific article

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing

scientific article

A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1.

scientific article published on 10 January 2007

A splice-site mutation and overexpression of MYO6 cause a similar phenotype in two families with autosomal dominant hearing loss

scientific article published on 23 January 2008

A systematic review of hearing and vestibular function in carriers of the Pro51Ser mutation in the COCH gene

scientific article published on 26 February 2019

A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment.

scientific article

Age-related hearing impairment (ARHI): environmental risk factors and genetic prospects

scientific article

Amplification and sequencing of variable regions in bacterial 23S ribosomal RNA genes with conserved primer sequences ⬇️

scientific article published on 01 September 1993

Analysis of gene polymorphisms associated with K ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss

scientific article published in July 2009

Analysis of inner ear potassium recycling genes as potential factors associated with tinnitus

scientific article published in September 2012

Antiproliferative, Antiangiogenic, and Antimetastatic Therapy Response by Mangiferin in a Syngeneic Immunocompetent Colorectal Cancer Mouse Model Involves Changes in Mitochondrial Energy Metabolism

scientific article published on 03 December 2021

Apoptosis in acquired and genetic hearing impairment: the programmed death of the hair cell

scientific article

Are MYO1C and MYO1F associated with hearing loss?

scientific article

Association between variations in CAT and noise-induced hearing loss in two independent noise-exposed populations

scientific article published on 13 June 2007

Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population

scientific article published on 21 July 2011

Association of bone morphogenetic proteins with otosclerosis

scientific article published on April 2008

Audiometric analyses confirm a cochlear component, disproportional to age, in stapedial otosclerosis

scientific article published in September 2006

Audiometric shape and presbycusis

scientific article published in April 2009

Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 gene.

scientific article published in June 2011

Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment

scientific article published on 15 February 2018

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

scientific article published on April 2008

Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome

scientific article published on 23 September 2013

COL1A1 association and otosclerosis: A meta-analysis

scientific article published on 9 April 2012

Ca2+-binding protein 2 inhibits Ca2+-channel inactivation in mouse inner hair cells

scientific article published on 9 February 2017

Candidate gene association study for noise-induced hearing loss in two independent noise-exposed populations.

scientific article published on 16 January 2009

Cell-Free DNA From Metastatic Pancreatic Neuroendocrine Tumor Patients Contains Tumor-Specific Mutations and Copy Number Variations

scientific article published on 01 November 2018

Characteristic ERK1/2 signaling dynamics distinguishes necroptosis from apoptosis

scientific article published on 02 September 2021

Characterization of the murine Dfna5 promoter and regulatory regions

scientific article

Chromosomal Mapping of Two Members of the Human Dynein Gene Family to Chromosome Regions 7p15 and 11q13 near the Deafness Loci DFNA 5 and DFNA 11 ⬇️

scientific article published on September 15, 1997

Circling behavior in theEcl mouse is caused by lateral semicircular canal defects

scientific article published on 01 January 2004

Clinical applications of (epi)genetics in gastroenteropancreatic neuroendocrine neoplasms: Moving towards liquid biopsies

scientific article published on 01 September 2019

Concentration-related response potentiometric titrations to study the interaction of small molecules with large biomolecules

scientific article

Congenital hearing loss.

scientific article

Connexin-26 mutations in sporadic non-syndromal sensorineural deafness

scientific article published on 01 February 1998

Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.

scientific article published in September 1995

Construction of P1-Derived Artificial Chromosome and Yeast Artificial Chromosome Contigs Encompassing the DFNB7 andDFNB11 Region of Chromosome 9q13–21 ⬇️

scientific article published on September 1, 1997

Correction: Whole-Genome Saliva and Blood DNA Methylation Profiling in Individuals with a Respiratory Allergy.

scientific article published on 7 August 2017

Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway

scientific article published on 07 August 2018

DFNA5, a Gene Involved in Hearing Loss and Cancer: A Review ⬇️

scientific article published on March 1, 2012

DFNA5: hearing impairment exon instead of hearing impairment gene?

scientific article published on June 2004

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

scientific article published on 7 June 2011

DFNB93, a novel locus for autosomal recessive moderate-to-severe hearing impairment.

scientific article published in June 2011

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

scientific article published on 6 May 2016

Deep sequencing of the TP53 gene reveals a potential risk allele for non-small cell lung cancer and supports the negative prognostic value of TP53 variants.

scientific article published in February 2017

Dependence of the Ligation Efficiency of Large DNA Fragments Isolated from Agarose Gels on the Purification Method

scientific article published on 01 August 1998

Detection of rare nonsynonymous variants in TGFB1 in otosclerosis patients.

scientific article published on 30 January 2009

Determination of the Potential Tumor-Suppressive Effects of Gsdme in a Chemically Induced and in a Genetically Modified Intestinal Cancer Mouse Model

scientific article published on 20 August 2019

Determination of the carrier frequency of the common GJB2 (connexin-26) 35delG mutation in the Belgian population using an easy and reliable screening method

scientific article

Early-Onset Sensorineural Hearing Loss and Late-Onset Neurologic Complaints Caused by a Mitochondrial Mutation at Position 7472 ⬇️

scientific article published on August 1, 1998

Echinacea purpurea (L.) Moench treatment of monocytes promotes tonic interferon signaling, increased innate immunity gene expression and DNA repeat hypermethylated silencing of endogenous retroviral sequences

scientific article published on 12 May 2021

Echocardiographic and Histological Assessment of Age-Related Valvular Changes in Normal Rats

scientific article published on 27 December 2008

Ectopic microRNA-150-5p transcription sensitizes glucocorticoid therapy response in MM1S multiple myeloma cells but fails to overcome hormone therapy resistance in MM1R cells

scientific article

Effect of Primary Tumor Location on Second- or Later-line Treatment Outcomes in Patients With RAS Wild-type Metastatic Colorectal Cancer and All Treatment Lines in Patients With RAS Mutations in Four Randomized Panitumumab Studies

scientific article published on 08 March 2018

Evaluation of host genetic and viral factors as surrogate markers for HTLV-1-associated myelopathy/tropical spastic paraparesis in Peruvian HTLV-1-infected patients.

scientific article published on March 2010

Expression profiling of migrated and invaded breast cancer cells predicts early metastatic relapse and reveals Krüppel-like factor 9 as a potential suppressor of invasive growth in breast cancer

scientific article

Familial congenital hydrocephalus and aqueduct stenosis with probably autosomal dominant inheritance and variable expression ⬇️

scientific article published on June 11, 1998

Familial progressive vestibulocochlear dysfunction caused by a COCH mutation (DFNA9).

scientific article published in July 2000

Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1-22.3.

scientific article published on 01 August 2005

Fluctuant, progressive hearing loss associated with Menière like vertigo in three patients with the Pendred syndrome ⬇️

scientific article published on December 1, 2001

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

scientific article

Function and expression pattern of nonsyndromic deafness genes

scientific article

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74

scientific article

GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation

scientific article published on 31 January 2003

GJB2 mutations and degree of hearing loss: a multicenter study

scientific article

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

scientific article

GLI2 promoter hypermethylation in saliva of children with a respiratory allergy.

scientific article published on 11 April 2018

GRM7 variants confer susceptibility to age-related hearing impairment

scientific article

Genetic variants in RELN are associated with otosclerosis in a non-European population from Tunisia

scientific article published on 14 July 2010

Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations.

scientific article published on 22 October 2009

Genetics of microtia and associated syndromes.

scientific article published on 16 March 2009

Genetics of otosclerosis: finally catching up with other complex traits?

scientific article published in 2021

Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation

scientific article

Genome-wide SNP analysis reveals no gain in power for association studies of common variants in the Finnish Saami

scientific article

Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait

scientific article published on 28 August 2008

Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21.

scientific article published on 13 December 2012

Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment

scientific article

Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment

scientific article published on 23 October 2019

Genotype-phenotype correlation for DFNA22: characterization of non-syndromic, autosomal dominant, progressive sensorineural hearing loss due to MYO6 mutations

scientific article published on 5 November 2009

Genotype-phenotype correlation in L1 associated diseases

scientific article published on May 1998

Hearing disability measured by the speech, spatial, and qualities of hearing scale in clinically normal-hearing and hearing-impaired middle-aged persons, and disability screening by means of a reduced SSQ (the SSQ5).

scientific article published in September 2012

Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6 ⬇️

scientific article

Hereditary otovestibular dysfunction and Ménière's disease in a large Belgian family is caused by a missense mutation in the COCH gene.

scientific article published on November 2001

Heritability of audiometric shape parameters and familial aggregation of presbycusis in an elderly Flemish population

scientific article published on 18 March 2010

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

scientific journal article

High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects

scientific article

High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene

scientific article (publication date: August 1999)

High resolution imaging of the mouse inner ear by microtomography: a new tool in inner ear research

scientific article

Hotspot DAXX, PTCH2 and CYFIP2 mutations in pancreatic neuroendocrine neoplasms

scientific article published on 01 January 2019

Human hereditary hearing impairment: mouse models can help to solve the puzzle

scientific article

Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES.

scientific article published on September 2000

Identification of a 5' splice site mutation in intron 4 of the L1CAM gene in an X-linked hydrocephalus family

article

Identification of three novel TECTA mutations in Iranian families with autosomal recessive nonsyndromic hearing impairment at the DFNB21 locus.

scientific article

Influence of exogenic factors on age-related hearing impairment

scientific article published in October 2009

Inherited mitochondrial variants are not a major cause of age-related hearing impairment in the European population

scientific article published on 30 May 2011

Insufficient evidence for a role of SERPINF1 in otosclerosis

scientific article published on 09 April 2019

Interaction between prenatal pesticide exposure and a common polymorphism in the PON1 gene on DNA methylation in genes associated with cardio-metabolic disease risk-an exploratory study

scientific article published on 05 April 2017

Involvement of T-cell receptor-beta alterations in the development of otosclerosis linked to OTSC2.

scientific article published on 25 February 2010

Is DFNA5 a susceptibility gene for age-related hearing impairment?

scientific article

KCNQ4: a gene for age-related hearing impairment?

scientific article

L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns.

scientific article published in June 1998

L1-associated diseases: clinical geneticists divide, molecular geneticists unite.

scientific article

Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution

scientific article published on 17 September 2011

Large-scale analysis of DFNA5 methylation reveals its potential as biomarker for breast cancer.

scientific article

Large-scale copy number analysis reveals variations in genes not previously associated with malignant pleural mesothelioma.

scientific article published in December 2017

Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p

scientific article (publication date: April 1997)

Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families

scientific article (publication date: 18 August 1994)

Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3.

scientific article

Localization of a gene for otosclerosis to chromosome 15q25-q26.

scientific article published in February 1998

Localization of a novel gene for nonsyndromic hearing loss (DFNB17) to chromosome region 7q31 ⬇️

scientific article published on June 30, 1998

Long-term acquired everolimus resistance in pancreatic neuroendocrine tumours can be overcome with novel PI3K-AKT-mTOR inhibitors

scientific article published on March 2016

Loss of function of Ywhah in mice induces deafness and cochlear outer hair cells' degeneration.

scientific article

MASA syndrome is due to mutations in the neural cell adhesion gene L1CAM.

scientific article published on July 1994

MDM2 SNP309 and SNP285 Act as Negative Prognostic Markers for Non-small Cell Lung Cancer Adenocarcinoma Patients.

scientific article

Methylation analysis of Gasdermin E shows great promise as a biomarker for colorectal cancer

scientific article published on 16 April 2019

Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells

scientific journal article

Molecular analysis of an asbestos-exposed Belgian family with a high prevalence of mesothelioma

scientific article published on 01 October 2018

Molecular characterization of WFS1 in patients with Wolfram syndrome

scientific article published in May 2003

Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform

scientific article

Monogenic nonsyndromic otosclerosis: audiological and linkage analysis in a large Greek pedigree.

scientific article published on 15 September 2005

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

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

scientific article published on 9 July 2008

Mutation analysis of mitochondrial DNA 12SrRNA and tRNASer(UCN) genes in non-syndromic hearing loss patients.

scientific article published on 26 August 2008

Mutation and Methylation Analysis of Circulating Tumor DNA Can Be Used for Follow-up of Metastatic Colorectal Cancer Patients

Mutation in the COCH gene is associated with superior semicircular canal dehiscence

scientific article published on 01 February 2009

Mutation in the zonadhesin-like domain of alpha-tectorin associated with autosomal dominant non-syndromic hearing loss.

scientific article

Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus

scientific article

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease

scientific article (publication date: October 2003)

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

scientific article

Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.

scientific article

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.

scientific article

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations

scientific article published on 9 April 2002

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss

scientific article (publication date: 15 October 2001)

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

scientific article published in November 1998

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

scientific journal article

Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment ⬇️

scientific article published on May 1, 1998

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus

scientific journal article

New gene for autosomal recessive non-syndromic hearing loss maps to either chromosome 3q or 19p ⬇️

scientific article published on September 5, 1997

Next generation exome sequencing of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1 reveals different lineages

scientific article published on 04 August 2015

No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population.

scientific article published in December 2009

Non-syndromic autosomal dominant sensorineural hearing loss: a new field of research ⬇️

scientific article published on February 1, 1998

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)

scientific article

Nonsyndromic autosomal dominant progressive sensorineural hearing loss: audiologic analysis of a pedigree linked to DFNA2.

scientific article published in January 1998

Nonsyndromic hearing loss.

scientific article

Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Pendred syndrome

scientific article published on April 1, 2010

Novel human pathological mutations. Gene symbol: SLC26A4. Disease: deafness, non-syndromic, autosomal recessive

scientific article published on 01 April 2010

Occupational noise, smoking, and a high body mass index are risk factors for age-related hearing impairment and moderate alcohol consumption is protective: a European population-based multicenter study

scientific article

Otosclerosis: a genetically heterogeneous disease involving at least three different genes.

scientific article published in April 2002

Overcoming cetuximab resistance in HNSCC: the role of AURKB and DUSP proteins

scientific article published on 2 September 2014

Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome

scientific article published on 26 July 2006

Pendred syndrome and DFNB4-mutation screening ofSLC26A4by denaturing high-performance liquid chromatography and the identification of eleven novel mutations

article

Pharmacological levels of Withaferin A (Withania somnifera) trigger clinically relevant anticancer effects specific to triple negative breast cancer cells

scientific article published on 03 February 2014

Phenotype description of a Dutch otosclerosis family with suggestive linkage to OTSC7.

scientific article published in July 2007

Phenotype of the first otosclerosis family linked to OTSC10.

scientific article published in April 2011

Phenotype-genotype correlations in otosclerosis: clinical features of OTSC2.

scientific article published in January 2007

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

scientific article

Possible implication of NFKB1A and NKG2D genes in susceptibility to HTLV-1-associated myelopathy/tropical spastic paraparesis in Peruvian patients infected with HTLV-1.

scientific article published on February 2012

Potentiometric detection in UPLC as an easy alternative to determine cocaine in biological samples

scientific article published on 16 December 2014

Potentiometric sensors doped with biomolecules as a new approach to small molecule/biomolecule binding kinetics analysis

scientific article

Presymptomatic Diagnosis of Nonsyndromic Hearing Loss by Genotyping ⬇️

scientific article published on January 1, 1998

Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study

scientific article

Primary tumor sidedness has an impact on prognosis and treatment outcome in metastatic colorectal cancer: results from two randomized first-line panitumumab studies.

scientific article published on 25 April 2017

Prognostic and Predictive Value of RAS Gene Mutations in Colorectal Cancer: Moving Beyond KRAS Exon 2.

scientific article published on 07 September 2015

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

scientific article published in April 2003

Progressive hearing loss, hypoplasia of the cochlea and widened vestibular aqueducts are very common features in Pendred's syndrome.

scientific article published in October 1998

Progressive late-onset sensorineural hearing loss and vestibular impairment with vertigo (DFNA9/COCH): longitudinal analyses in a belgian family

scientific article (publication date: September 2003)

Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling.

scientific article published on March 2014

Role of DFNA5 in hearing loss and cancer - a comment on Rakusic et al.

scientific article published on 15 September 2015

Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children

scientific article published on 01 July 2018

Role of killer cell immunoglobulin-like receptor gene content and human leukocyte antigen-C group in susceptibility to human T-lymphotropic virus 1-associated myelopathy/tropical spastic paraparesis in Peru

scientific article published on 17 May 2010

Sex-Related Hearing Impairment in Wolfram Syndrome Patients Identified by Inactivating WFS1 Mutations

scientific article published on 01 January 2004

Strong linkage disequilibrium for the frequent GJB2 35delG mutation in the Greek population

scientific article published on 01 November 2008

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe

scientific article published on March 2002

The DFNA5 gene, responsible for hearing loss and involved in cancer, encodes a novel apoptosis-inducing protein

scientific article

The FAS-670 AA genotype is associated with high proviral load in peruvian HAM/TSP patients

scientific article published on 7 September 2016

The Gasdermin E Gene Has Potential as a Pan-Cancer Biomarker, While Discriminating between Different Tumor Types

scientific article published on 18 November 2019

The Genetic Landscape of Malignant Pleural Mesothelioma: Results from Massively Parallel Sequencing

scientific article

The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells

scientific article published on 19 February 2003

The clinical spectrum of mutations in L1, a neuronal cell adhesion molecule

scientific article published on July 1996

The coding polymorphism T263I in TGF-beta1 is associated with otosclerosis in two independent populations

scientific article published on 22 June 2007

The complexity of age-related hearing impairment: contributing environmental and genetic factors.

scientific article published on 27 July 2007

The deafness gene DFNA5 induces programmed cell death through mitochondria and MAPK-related pathways

scientific article published on 16 July 2015

The etiology of otosclerosis: a combination of genes and environment.

scientific article published on June 2010

The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment

scientific article published on 6 October 2007

The influence of genetic variation in oxidative stress genes on human noise susceptibility

scientific article published in April 2005

The pericentromeric 21 DNA marker pGSM21 (D21S13) contains an expressed HTF island

scientific article published on 01 May 1990

The predictive value of primary tumor location in patients with metastatic colorectal cancer: A systematic review.

scientific article

The role of connexins in human disease.

scientific article

The splicing mutant of the human tumor suppressor protein DFNA5 induces programmed cell death when expressed in the yeast Saccharomyces cerevisiae

scientific article published on 25 July 2012

Thoracic aortic aneurysm in infancy in aneurysms-osteoarthritis syndrome due to a novel SMAD3 mutation: further delineation of the phenotype

article published in 2013

Tumor-specific genetic variants can be detected in circulating cell-free DNA of malignant pleural mesothelioma patients

scientific article published on 21 July 2018

Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss.

scientific article published on 11 April 2011

Two frequent missense mutations in Pendred syndrome

scientific article

Unique sequence homology in the pericentromeric regions of the long arms of chromosomes 13 and 21.

scientific article published in January 1992

Use of Potentiometric Sensors To Study (Bio)molecular Interactions

scientific article published on 08 May 2012

Use of potentiometric detection in (ultra) high performance liquid chromatography and modelling with adsorption/desorption binding kinetics.

scientific article published on 21 March 2013

Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21.

scientific article

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

scientific article published on 05 October 2018

Variations in HSP70 genes associated with noise-induced hearing loss in two independent populations

scientific article

Vestibular dysfunction in the epistatic circler mouse is caused by phenotypic interaction of one recessive gene and three modifier genes

scientific article

Whole-Genome Saliva and Blood DNA Methylation Profiling in Individuals with a Respiratory Allergy

scientific article

Whole-exome characterization of pancreatic neuroendocrine tumor cell lines BON-1 and QGP-1.

scientific article

Withaferin A induces heme oxygenase (HO-1) expression in endothelial cells via activation of the Keap1/Nrf2 pathway

scientific article

pyAmpli: an amplicon-based variant filter pipeline for targeted resequencing data.

scientific article published on 14 December 2017

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