Related references
Note: Only part of the references are listed.Loss-of-Function Mutations in the PRPS1 Gene Cause a Type of Nonsyndromic X-linked Sensorineural Deafness, DFN2
Xuezhong Liu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2010)
Noncoding Mutations of HGF Are Associated with Nonsyndromic Hearing Loss, DFNB39
Julie M. Schultz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome
Tao Yang et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2009)
Mutations in the seed region of human miR-96 are responsible for nonsyndromic progressive hearing loss
Angeles Mencia et al.
NATURE GENETICS (2009)
Semantic Similarity in Biomedical Ontologies
Catia Pesquita et al.
PLOS COMPUTATIONAL BIOLOGY (2009)
Genome-wide prioritization of disease genes and identification of disease-disease associations from an integrated human functional linkage network
Bolan Linghu et al.
GENOME BIOLOGY (2009)
Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35
Rob W. J. Collin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2008)
Defining functional distances over Gene Ontology
Angela del Pozo et al.
BMC BIOINFORMATICS (2008)
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans
Zubair M. Ahmed et al.
NATURE GENETICS (2008)
Gene analogue finder: a GRID solution for finding functionally analogous gene products
Angelica Tulipano et al.
BMC BIOINFORMATICS (2007)
A mutation in CCDC50, a gene encoding an effector of epidermal growth factor-mediated cell signaling, causes progressive hearing loss
Silvia Modamio-Hoybjor et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2007)
A new method to measure the semantic similarity of GO terms
James Z. Wang et al.
BIOINFORMATICS (2007)
Mutations of the RDX gene cause nonsyndromic hearing loss at the DFNB24 locus
Shahid Y. Khan et al.
HUMAN MUTATION (2007)
A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness
R. Ficarella et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
Entrez Gene: gene-centered information at NCBI
Donna Maglott et al.
NUCLEIC ACIDS RESEARCH (2007)
A role for Alstrom syndrome protein, Alms1, in kidney ciliogenesis and cellular quiescence
Guochun Li et al.
PLOS GENETICS (2007)
Tricellulin is a tight-junction protein necessary for hearing
Saima Riazuddin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Assessing protein similarity with Gene Ontology and its use in subnuclear localization prediction
Zhengdeng Lei et al.
BMC BIOINFORMATICS (2006)
Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential
Philine Wangemann
JOURNAL OF PHYSIOLOGY-LONDON (2006)
Mutations of human TMHS cause recessively inherited non-syndromic hearing loss
M. I. Shabbir et al.
JOURNAL OF MEDICAL GENETICS (2006)
Mutations in the lipoma HMGIC fusion partner-like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss
Ersan Kalay et al.
HUMAN MUTATION (2006)
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy
Sedigheh Delmaghani et al.
NATURE GENETICS (2006)
A new measure for functional similarity of gene products based on Gene Ontology
Andreas Schlicker et al.
BMC BIOINFORMATICS (2006)
Prediction of yeast protein-protein interaction network: insights from the Gene Ontology and annotations
Xiaomei Wu et al.
NUCLEIC ACIDS RESEARCH (2006)
Mutations in a novel isoform of TRIOBP that encodes a filamentous-actin binding protein are responsible for DFNB28 recessive nonsyndromic hearing loss
H Shahin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafness
S Riazuddin et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Correlation between gene expression and GO semantic similarity
JL Sevilla et al.
IEEE-ACM TRANSACTIONS ON COMPUTATIONAL BIOLOGY AND BIOINFORMATICS (2005)
Broadly predicting specific gene functions with expression similarity and taxonomy similarity
H Yu et al.
GENE (2005)
Modification of human hearing loss by plasma-membrane calcium pump PMCA2
JM Schultz et al.
NEW ENGLAND JOURNAL OF MEDICINE (2005)
A novel autosomal recessive non-syndromic deafness locus, DFNB66, maps to chromosome 6p21.2-22.3 in a large Tunisian consanguineous family
A Tlili et al.
HUMAN HEREDITY (2005)
Prediction of functional modules based on comparative genome analysis and Gene Ontology application
HW Wu et al.
NUCLEIC ACIDS RESEARCH (2005)
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4)
F Donaudy et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction
S Naz et al.
JOURNAL OF MEDICAL GENETICS (2004)
Hereditary non-syndromic sensorineural hearing loss - Transforming silence to sound
I Schrijver
JOURNAL OF MOLECULAR DIAGNOSTICS (2004)
CD 151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin
VK Crew et al.
BLOOD (2004)
PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23
ZM Ahmed et al.
HUMAN MOLECULAR GENETICS (2003)
Mutations in the gene encoding KIAA1199 protein, an inner-ear protein expressed in Deiters' cells and the fibrocytes, as the cause of nonsyndromic hearing loss
S Abe et al.
JOURNAL OF HUMAN GENETICS (2003)
Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31
P Mburu et al.
NATURE GENETICS (2003)
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss
XZ Liu et al.
HUMAN MOLECULAR GENETICS (2003)
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
D Weil et al.
HUMAN MOLECULAR GENETICS (2003)
A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)
E van Wijk et al.
JOURNAL OF MEDICAL GENETICS (2003)
Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues
S Abe et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26)
M Zhu et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2003)
A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan
M Ansar et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2003)
Novel ATP6V1B1 and ATP6V0A4 mutations in autosomal recessive distal renal tubular acidosis with new evidence for hearing loss
EH Stover et al.
JOURNAL OF MEDICAL GENETICS (2002)
Mutation of a transcription factor, TFCP2L3, causes progressive autosomal dominant hearing loss, DFNA28
LM Peters et al.
HUMAN MOLECULAR GENETICS (2002)
Mutations in a novel gene, TMIE, are associated with hearing loss linked to the DFNB6 locus
S Naz et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness
XM Ouyang et al.
HUMAN GENETICS (2002)
Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC
ZM Ahmed et al.
HUMAN GENETICS (2002)
From flies' eyes to our ears: Mutations in a human class III myosin cause progressive nonsyndromic hearing loss DFNB30
T Walsh et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22
I Zwaenepoel et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)
A deletion involving the connexin 30 gene in nonsyndromic hearing impairment.
I del Castillo et al.
NEW ENGLAND JOURNAL OF MEDICINE (2002)
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
K Kurima et al.
NATURE GENETICS (2002)
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus
E Verpy et al.
NATURE GENETICS (2001)
Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1
TL Young et al.
HUMAN MOLECULAR GENETICS (2001)
Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss
IN Bespalova et al.
HUMAN MOLECULAR GENETICS (2001)
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss
S Melchionda et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus
S Wayne et al.
HUMAN MOLECULAR GENETICS (2001)
Mutations in the gene encoding tight junction claudin-14 cause autosomal recessive deafness DFNB29
ER Wilcox et al.
CELL (2001)
Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23
JM Bork et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS
A Bulfone et al.
HUMAN MOLECULAR GENETICS (2000)
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
E Verpy et al.
NATURE GENETICS (2000)