List of works - Guy Van Camp

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

scientific article published in November 1998

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

scientific article

GJB2 mutations and degree of hearing loss: a multicenter study

scientific article

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

scientific article published on May 1, 1998

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

scientific article published on 27 July 2007

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

scientific article published in June 1998

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

scientific article

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

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

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

scientific article

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

scientific article

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

scientific journal article

GRM7 variants confer susceptibility to age-related hearing impairment

scientific article

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

scientific journal article

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

scientific article (publication date: October 2003)

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

scientific article

A dominant-negative GFI1B mutation in the gray platelet syndrome

scientific article

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

scientific article

Function and expression pattern of nonsyndromic deafness genes

scientific article

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

scientific article published on July 1994

Two frequent missense mutations in Pendred syndrome

scientific article

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

scientific article published on August 2001

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

scientific article published on 6 October 2007

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

scientific article

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

scientific article published on 31 January 2003

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

scientific article

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

scientific article (publication date: 18 August 1994)

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

scientific article (publication date: August 1999)

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

scientific article

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

scientific article published in February 1998

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

scientific article published on 26 June 2006

KCNQ4: a gene for age-related hearing impairment?

scientific article

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

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

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

scientific article published on 9 April 2002

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

scientific article

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

scientific article

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

scientific journal article

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

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

scientific article

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

scientific article published on 22 June 2007

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

scientific article

Genotype-phenotype correlation in L1 associated diseases

scientific article published on May 1998

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

scientific article

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

scientific article published on 16 January 2009

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

scientific article

Connexin-26 mutations in sporadic non-syndromal sensorineural deafness

scientific article published on 01 February 1998

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

scientific article published on 7 June 2011

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

scientific article published on July 1996

List of works by Guy Van Camp

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

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

GJB2 mutations and degree of hearing loss: a multicenter study

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

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

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

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

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.

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

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

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

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

GRM7 variants confer susceptibility to age-related hearing impairment

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

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

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

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

A dominant-negative GFI1B mutation in the gray platelet syndrome

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

Function and expression pattern of nonsyndromic deafness genes

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

Two frequent missense mutations in Pendred syndrome

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

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

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

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

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

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

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

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

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

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

KCNQ4: a gene for age-related hearing impairment?

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

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

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

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

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

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

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

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

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

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

Genotype-phenotype correlation in L1 associated diseases

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

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

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

Connexin-26 mutations in sporadic non-syndromal sensorineural deafness

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

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