Nonsyndromic hearing impairment: unparalleled heterogeneity.

Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 3.85

Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res (2008) 3.76

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss. Am J Hum Genet (1998) 2.51

Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus. Genet Med (2008) 1.49

Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med (2009) 1.40

Autosomal recessive nonsyndromic deafness genes: a review. Front Biosci (Landmark Ed) (2012) 1.39

Gene-based approach to human gene-phenotype correlations. Proc Natl Acad Sci U S A (1997) 1.37

Molecular markers for cell types of the inner ear and candidate genes for hearing disorders. Proc Natl Acad Sci U S A (1998) 1.30

Cx26 deafness: mutation analysis and clinical variability. J Med Genet (1999) 1.18

Performance of cochlear implant recipients with GJB2-related deafness. Am J Med Genet (2002) 1.09

A Moroccan family with autosomal recessive sensorineural hearing loss caused by a mutation in the gap junction protein gene connexin 26 (GJB2). J Med Genet (1998) 1.04

Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound. J Mol Diagn (2004) 1.02

A new locus for nonsyndromic deafness DFNB49 maps to chromosome 5q12.3-q14.1. Hum Genet (2004) 0.99

A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred. Am J Hum Genet (2000) 0.98

The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children. J Med Genet (2006) 0.96

Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity. PLoS One (2013) 0.96

Gene discovery in the auditory system: characterization of additional cochlear-expressed sequences. J Assoc Res Otolaryngol (2002) 0.93

SNP linkage analysis and whole exome sequencing identify a novel POU4F3 mutation in autosomal dominant late-onset nonsyndromic hearing loss (DFNA15). PLoS One (2013) 0.92

Col11a2 deletion reveals the molecular basis for tectorial membrane mechanical anisotropy. Biophys J (2009) 0.92

A short splice form of Xin-actin binding repeat containing 2 (XIRP2) lacking the Xin repeats is required for maintenance of stereocilia morphology and hearing function. J Neurosci (2015) 0.91

Unconventional myosins, the basis for deafness in mouse and man. Am J Hum Genet (1997) 0.91

A novel locus for autosomal dominant nonsyndromic hearing loss, DFNA13, maps to chromosome 6p. Am J Hum Genet (1997) 0.90

DFNA25, a novel locus for dominant nonsyndromic hereditary hearing impairment, maps to 12q21-24. Am J Hum Genet (2000) 0.89

Identification of copy number variants through whole-exome sequencing in autosomal recessive nonsyndromic hearing loss. Genet Test Mol Biomarkers (2014) 0.89

SLC26A4 genotypes and phenotypes associated with enlargement of the vestibular aqueduct. Cell Physiol Biochem (2011) 0.87

A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family. Hum Genet (2002) 0.87

A novel locus (DFNA24) for prelingual nonprogressive autosomal dominant nonsyndromic hearing loss maps to 4q35-qter in a large Swiss German kindred. Am J Hum Genet (2000) 0.87

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness. Orphanet J Rare Dis (2014) 0.86

Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss. PLoS One (2013) 0.85

A new locus for non-syndromal, autosomal recessive, sensorineural hearing loss (DFNB16) maps to human chromosome 15q21-q22. J Med Genet (1997) 0.85

A novel autosomal recessive non-syndromic deafness locus (DFNB35) maps to 14q24.1-14q24.3 in large consanguineous kindred from Pakistan. Eur J Hum Genet (2003) 0.83

The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss. Int J Audiol (2012) 0.83

An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis. J Hum Genet (2016) 0.82

Mutation screening of two candidate genes from 13q32 in families affected with Bipolar disorder: human peptide transporter (SLC15A1) and human glypican5 (GPC5). BMC Genomics (2002) 0.81

c.G2114A MYH9 mutation (DFNA17) causes non-syndromic autosomal dominant hearing loss in a Brazilian family. Genet Mol Biol (2014) 0.79

Predicting candidate genes for human deafness disorders: a bioinformatics approach. BMC Genomics (2006) 0.79

Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus. PLoS One (2012) 0.79

Modifiers of hearing impairment in humans and mice. Curr Genomics (2010) 0.79

A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus. J Med Genet (1999) 0.79

Potential treatments for genetic hearing loss in humans: current conundrums. Gene Ther (2015) 0.78

Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family. J Hum Genet (2015) 0.78

Variations in Multiple Syndromic Deafness Genes Mimic Non-syndromic Hearing Loss. Sci Rep (2016) 0.77

The Study of SLC26A4 Gene Causing Autosomal Recessive Hearing Loss by Linkage Analysis in a Cohort of Iranian Populations. Int J Mol Cell Med (2014) 0.77

Speech Perception Outcomes after Cochlear Implantation in Children with GJB2/DFNB1 associated Deafness. Balkan Med J (2014) 0.76

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss. PLoS One (2016) 0.75

Screening of DFNB3 in Iranian families with autosomal recessive non-syndromic hearing loss reveals a novel pathogenic mutation in the MyTh4 domain of the MYO15A gene in a linked family. Iran J Basic Med Sci (2016) 0.75

Detection of Connexion 26 GENE (GJB2) Mutations in Cases of Congenital Non Syndromic Deafness. Indian J Otolaryngol Head Neck Surg (2015) 0.75

Genetic analysis for early diagnosis of otorhinolaryngeal diseases. GMS Curr Top Otorhinolaryngol Head Neck Surg (2010) 0.75

A recessive Mendelian model to predict carrier probabilities of DFNB1 for nonsyndromic deafness. Hum Mutat (2006) 0.75

Genetics: A New Frontier in Otology. Indian J Otolaryngol Head Neck Surg (2016) 0.75

Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans. BMC Med Genet (2016) 0.75

Connexin26 deafness in several interconnected families. J Med Genet (1999) 0.75

Genetic Linkage Analysis of DFNB3, DFNB9 and DFNB21 Loci in GJB2 Negative Families with Autosomal Recessive Non-syndromic Hearing Loss. Iran J Public Health (2016) 0.75

Over-expression of myosin7A in cochlear hair cells of circling mice. Lab Anim Res (2017) 0.75

Efficiency of microarray and SNPscan for the detection of hearing loss gene in 71 cases with nonsyndromic hearing loss. Medicine (Baltimore) (2017) 0.75

Defective myosin VIIA gene responsible for Usher syndrome type 1B. Nature (1995) 5.91

Genetic epidemiology of hearing impairment. Ann N Y Acad Sci (1991) 5.39

A note on deaf mutism. Ann Hum Genet (1959) 5.24

Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science (1994) 4.86

Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet (1993) 4.49

Unconventional myosins. Annu Rev Cell Dev Biol (1995) 3.34

POU-domain transcription factors: pou-er-ful developmental regulators. Genes Dev (1991) 3.16

Nonsyndromic autosomal recessive deafness is linked to the DFNB1 locus in a large inbred Bedouin family from Israel. Am J Hum Genet (1995) 3.02

Hereditary deaf mutism, with particular reference to Northern Ireland. Ann Hum Genet (1956) 2.99

Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type 1B. Proc Natl Acad Sci U S A (1995) 2.94

Phylogenetic analysis of the myosin superfamily. Cell Motil Cytoskeleton (1993) 2.93

Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science (1995) 2.38

A gene for congenital, recessive deafness DFNB3 maps to the pericentromeric region of chromosome 17. Nat Genet (1995) 2.16

Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families. N Engl J Med (1994) 2.03

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q. Nat Genet (1994) 1.88

A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat (1994) 1.81

Isolation of novel and known genes from a human fetal cochlear cDNA library using subtractive hybridization and differential screening. Genomics (1994) 1.73

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene. Hum Mol Genet (1994) 1.67

Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4. Hum Mol Genet (1996) 1.67

A molecular basis for human hypersensitivity to aminoglycoside antibiotics. Nucleic Acids Res (1993) 1.67

Human Usher 1B/mouse shaker-1: the retinal phenotype discrepancy explained by the presence/absence of myosin VIIA in the photoreceptor cells. Hum Mol Genet (1996) 1.59

A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness. Nat Genet (1996) 1.45

The gene for an inherited form of deafness maps to chromosome 5q31. Proc Natl Acad Sci U S A (1992) 1.42

Non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairean pedigree. Eur J Hum Genet (1996) 1.40

Linkage of a gene for dominant non-syndromic deafness to chromosome 19. Hum Mol Genet (1995) 1.36

The contribution of the DFNB1 locus to neurosensory deafness in a Caucasian population. Am J Hum Genet (1995) 1.30

Family studies of early childhood deafness ascertained through the Clarke School for the Deaf. Am J Hum Genet (1970) 1.28

Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity. Am J Otolaryngol (1994) 1.27

Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum Mol Genet (1996) 1.25

Sensorineural deafness inherited as a tissue specific mitochondrial disorder. J Med Genet (1992) 1.24

A gene for non-syndromic autosomal dominant progressive postlingual sensorineural hearing loss maps to chromosome 14q12-13. Hum Mol Genet (1996) 1.20

A new X linked recessive deafness syndrome with blindness, dystonia, fractures, and mental deficiency is linked to Xq22. J Med Genet (1995) 1.18

Mitochondrial mutation associated with nonsyndromic deafness. Am J Otolaryngol (1996) 1.18

Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15. Hum Mol Genet (1995) 1.17

Sex-linked deafness of a possibly new type. Acta Genet Stat Med (1960) 1.16

A family of POU-domain and Pit-1 tissue-specific transcription factors in pituitary and neuroendocrine development. Annu Rev Physiol (1990) 1.13

X-linked mixed deafness with stapes fixation in a Mauritian kindred: linkage to Xq probe pDP34. Genomics (1988) 1.13

An autosomal recessive nonsyndromic-hearing-loss locus identified by DNA pooling using two inbred Bedouin kindreds. Am J Hum Genet (1996) 1.10

An autosomal recessive nonsyndromic form of sensorineural hearing loss maps to 3p-DFNB6. Genome Res (1995) 1.09

Identification of a new locus for autosomal dominant non-syndromic hearing impairment (DFNA7) in a large Norwegian family. Hum Mol Genet (1996) 1.08

A human recessive neurosensory nonsyndromic hearing impairment locus is potential homologue of murine deafness (dn) locus. Hum Mol Genet (1995) 1.06

A gene for a dominant form of non-syndromic sensorineural deafness (DFNA11) maps within the region containing the DFNB2 recessive deafness gene. Hum Mol Genet (1996) 1.05

Mapping of DFN2 to Xq22. Hum Mol Genet (1996) 1.03

A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity. Genomics (1991) 1.02

Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q. Hum Mol Genet (1995) 1.01

A novel locus for non-syndromic sensorineural deafness (DFN6) maps to chromosome Xp22. Hum Mol Genet (1996) 0.97

A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2. Am J Hum Genet (1994) 0.95

A gene for autosomal dominant late-onset progressive non-syndromic hearing loss, DFNA10, maps to chromosome 6. Hum Mol Genet (1996) 0.94

A gene for autosomal dominant nonsyndromic hereditary hearing impairment maps to 4p16.3. Hum Mol Genet (1995) 0.94

Prevalence and genetic aspects of deaf mutism in Shanghai. J Med Genet (1987) 0.88

Perspectives on the basic reproductive ratio. J R Soc Interface (2005) 5.34

Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits. Proc Natl Acad Sci U S A (1997) 4.73

Value-based pathology: a cost-benefit analysis of the examination of routine and nonroutine tonsil and adenoid specimens. Am J Clin Pathol (1997) 4.51

Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet (2002) 4.00

Abnormal dendritic spine characteristics in the temporal and visual cortices of patients with fragile-X syndrome: a quantitative examination. Am J Med Genet (2001) 3.77

A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat Genet (1993) 3.58

Selective inhibition of receptor-coupled phospholipase C-dependent processes in human platelets and polymorphonuclear neutrophils. J Pharmacol Exp Ther (1990) 3.55

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23. Am J Hum Genet (2000) 3.48

The gut: a central organ after surgical stress. Surgery (1988) 2.76

Insulin receptor phosphorylation, insulin receptor substrate-1 phosphorylation, and phosphatidylinositol 3-kinase activity are decreased in intact skeletal muscle strips from obese subjects. J Clin Invest (1995) 2.66

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness. JAMA (1999) 2.56

Mutations in the human alpha-tectorin gene cause autosomal dominant non-syndromic hearing impairment. Nat Genet (1998) 2.52

Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F. Hum Mol Genet (2001) 2.48

Congenital cytomegalovirus infection. N Engl J Med (1977) 2.35

Broadband observations of the naked-eye gamma-ray burst GRB 080319B. Nature (2008) 2.16

A re-examination of risk estimates from the NIOSH Occupational Noise and Hearing Survey (ONHS) J Acoust Soc Am (1997) 2.09

Non-syndromic, autosomal-recessive deafness. Clin Genet (2006) 2.08

Congenital cytomegalovirus infection: diagnostic and prognostic significance of the detection of specific immunoglobulin M antibodies in cord serum. Pediatrics (1982) 2.07

Oral challenge tests for urticaria--an ethical dilemma. Br J Dermatol (1994) 1.98

Pattern formation in the blue-green alga, Anabaena. I. Basic mechanisms. J Cell Sci (1973) 1.92

Metabolic imaging of malignant pleural mesothelioma with fluorodeoxyglucose positron emission tomography. Chest (1998) 1.91

Camptodactyly and simialr atraumatic flexion deformities of the proximal interphalangeal joints of the fingers. A study of thirty-one cases. J Bone Joint Surg Am (1968) 1.89

Mutations in COL11A2 cause non-syndromic hearing loss (DFNA13). Nat Genet (1999) 1.82

Eye signs in craniopharyngioma. Br J Ophthalmol (1975) 1.80

Sustained endotoxemia leads to marked down-regulation of early steps in the insulin-signaling cascade. Crit Care Med (2001) 1.78

Pattern formation in the blue-green alga Anabaena. II. Controlled proheterocyst regression. J Cell Sci (1973) 1.78

Recurrent meningitis and Mondini dysplasia. Arch Otolaryngol Head Neck Surg (1990) 1.77

Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations. Hum Mutat (2001) 1.77

Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa. Am J Hum Genet (2000) 1.76

Glutamine metabolism by the intestinal tract. JPEN J Parenter Enteral Nutr (1985) 1.71

Teratogenicity of 2-ethoxyethanol by dermal application. Drug Chem Toxicol (1982) 1.70

Localization of the Usher syndrome type ID gene (Ush1D) to chromosome 10. Hum Mol Genet (1996) 1.69

Biochemical changes in the collagen of the palmar fascia in patients with Dupuytren's disease. J Bone Joint Surg Am (1981) 1.69

Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. Hum Mol Genet (1994) 1.68

Clinical and metabolic efficacy of glutamine-supplemented parenteral nutrition after bone marrow transplantation. A randomized, double-blind, controlled study. Ann Intern Med (1992) 1.68

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus. Hum Mol Genet (2001) 1.68

Challenge test battery in chronic urticaria. Br J Dermatol (1976) 1.67

Prognostic value of FDG PET imaging in malignant pleural mesothelioma. J Nucl Med (1999) 1.67

Localization of Usher syndrome type II to chromosome 1q. Genomics (1990) 1.67

A new family with the Townes-Brocks syndrome. Clin Genet (1988) 1.66

A single dose of endotoxin increases intestinal permeability in healthy humans. Arch Surg (1988) 1.66

Bioregulation of lysosomal enzyme secretion from human neutrophils: roles of guanosine 3':5'-monophosphate and calcium in stimulus-secretion coupling. Proc Natl Acad Sci U S A (1975) 1.65

CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1. Eur J Hum Genet (1995) 1.64

Nonsyndromic hearing impairment is associated with a mutation in DFNA5. Nat Genet (1998) 1.63

Why retrobulbar anaesthesia? Br J Ophthalmol (1988) 1.63

Mutants of Anabaena cylindrica altered in heterocyst spacing. Arch Microbiol (1975) 1.62

Mitochondrial deafness. Clin Genet (2007) 1.61

A common founder for the 35delG GJB2 gene mutation in connexin 26 hearing impairment. J Med Genet (2001) 1.61

Related cell-surface antigens expressed with positional specificity in Drosophila imaginal discs. Proc Natl Acad Sci U S A (1984) 1.60

Ten per cent polarized optical emission from GRB 090102. Nature (2009) 1.58

Positional cloning of a gene involved in hereditary multiple exostoses. Hum Mol Genet (1996) 1.58

Highly polarized light from stable ordered magnetic fields in GRB 120308A. Nature (2013) 1.57

Performance of a whole-body PET scanner using curve-plate NaI(Tl) detectors. J Nucl Med (2001) 1.56

Giant-cell tumors of the bones of the hand. J Hand Surg Am (1980) 1.55

L1 knockout mice show dilated ventricles, vermis hypoplasia and impaired exploration patterns. Hum Mol Genet (1998) 1.54

Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet (1999) 1.54

Increased intestinal permeability associated with infection in burn patients. Arch Surg (1988) 1.53

Abnormal movement of the arytenoid region during exercise presenting as exercise-induced asthma in an adolescent athlete. Chest (1994) 1.52

Molecular dissection of a contiguous gene syndrome: localization of the genes involved in the Langer-Giedion syndrome. Hum Mol Genet (1995) 1.51

FMRP is associated to the ribosomes via RNA. Hum Mol Genet (1996) 1.49

Poor outcome in Down syndrome fetuses with cardiac anomalies or growth retardation. Am J Med Genet A (2003) 1.48

ROR gamma: the third member of ROR/RZR orphan receptor subfamily that is highly expressed in skeletal muscle. Biochem Biophys Res Commun (1994) 1.48

Allometric scaling in comparative biology: problems of concept and method. Am J Physiol (1984) 1.48

The Lang lecture 1986. The enigma of primary open-angle glaucoma. Trans Ophthalmol Soc U K (1986) 1.48

[ The family physician's sentinel function studied with reference to referrals and referral cards]. Ned Tijdschr Geneeskd (1996) 1.47

Endobronchial tumors in children: an uncommon clinical entity. Ann Otol Rhinol Laryngol (2001) 1.45

Long-term potentiation in the hippocampus of fragile X knockout mice. Am J Med Genet (1996) 1.45

Pyrazoline bisphosphonate esters as novel antiinflammatory and antiarthritic agents. J Med Chem (1993) 1.45

Genetic factors in non-syndromic congenital heart malformations. Clin Genet (2010) 1.43

Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. Am J Hum Genet (1998) 1.39

Management of congenital buccopharyngeal membrane. Cleft Palate Craniofac J (1997) 1.39

Two brothers with mental retardation discordant for the fragile-X syndrome. Am J Med Genet (1990) 1.39

Study finds sleeping pills overprescribed. Science (1979) 1.39

L1-associated diseases: clinical geneticists divide, molecular geneticists unite. Hum Mol Genet (1997) 1.39

Insulin-like growth factor-I receptor internalization regulates signaling via the Shc/mitogen-activated protein kinase pathway, but not the insulin receptor substrate-1 pathway. J Biol Chem (1998) 1.37

A two-year follow-up study comparing short with long stay in-patient treatment of alcoholics. Br J Psychiatry (1973) 1.37

Linkage of a gene for dominant non-syndromic deafness to chromosome 19. Hum Mol Genet (1995) 1.36

A position-specific cell surface antigen in the drosophila wing imaginal disc. Cell (1981) 1.35

Effect of schizophrenia on frontotemporal activity during word encoding and recognition: a PET cerebral blood flow study. Am J Psychiatry (2001) 1.35

Rethinking allometry. J Theor Biol (1980) 1.34

Distinct biologically active receptors for insulin, insulin-like growth factor I, and insulin-like growth factor II in cultured skeletal muscle cells. J Biol Chem (1985) 1.33

Dynamic mutations hit double figures. Nat Genet (1994) 1.32

Mildly impaired water maze performance in male Fmr1 knockout mice. Neuroscience (1997) 1.32

Two frequent missense mutations in Pendred syndrome. Hum Mol Genet (1998) 1.31

Phorbol myristate acetate-induced release of granule enzymes from human neutrophils: inhibition by the calcium antagonist, 8-(N,N-diethylamino)-octyl 3,4,5-trimethoxybenzoate hydrochloride. Biochem Biophys Res Commun (1979) 1.31

Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4). Hum Mol Genet (2000) 1.30

Infection with cytomegalovirus during pregnancy: specific IgM antibodies as a marker of recent primary infection. J Infect Dis (1982) 1.30

Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I. Am J Hum Genet (2000) 1.29

Dual time point fluorine-18 fluorodeoxyglucose positron emission tomography: a potential method to differentiate malignancy from inflammation and normal tissue in the head and neck. Eur J Nucl Med (1999) 1.28

Excretion of cytomegalovirus in mothers: observations after delivery of congenitally infected and normal infants. J Infect Dis (1982) 1.27

Hereditary multiple exostoses: from genetics to clinical syndrome and complications. Eur J Radiol (2001) 1.26

Pediatric otolaryngologists' knowledge and understanding of genetic testing for deafness. Arch Otolaryngol Head Neck Surg (2001) 1.26

Laryngomalacia and its treatment. Laryngoscope (1999) 1.26

Use of isolated nuclei in the indirect fluorescent-antibody test for human cytomegalovirus infection: comparison with microneutralization, anticomplement, and conventional indirect fluorescent-antibody assays. J Clin Microbiol (1978) 1.25

High prevalence of symptoms of Menière's disease in three families with a mutation in the COCH gene. Hum Mol Genet (1999) 1.25

Effects of contractile activity on tyrosine phosphoproteins and PI 3-kinase activity in rat skeletal muscle. Am J Physiol (1995) 1.24