Published in Clin Genet on January 01, 1976
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A (2004) 2.41
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. Am J Med Genet A (2010) 0.99
Sipl1 and Rbck1 are novel Eya1-binding proteins with a role in craniofacial development. Mol Cell Biol (2010) 0.95
Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome. Dev Biol (2009) 0.91
Congenital hearing impairment. Pediatr Radiol (2006) 0.88
Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping. Am J Hum Genet (1994) 0.83
Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review. Int Arch Otorhinolaryngol (2013) 0.82
EYA1 and SIX1 gene mutations in Japanese patients with branchio-oto-renal (BOR) syndrome and related conditions. Pediatr Nephrol (2006) 0.81
Balancing cell numbers during organogenesis: Six1a differentially affects neurons and sensory hair cells in the inner ear. Dev Biol (2011) 0.81
1992 American Society of Human Genetics presidential address: back to the future. Am J Hum Genet (1993) 0.80
Incudomalleal joint formation: the roles of apoptosis, migration and downregulation. BMC Dev Biol (2007) 0.79
Cochlear implantation in branchio-oto-renal syndrome - A surgical challenge. Indian J Otolaryngol Head Neck Surg (2007) 0.76
Recurrent meningitis and cerebrospinal fluid leak-two sides of the same vestibulocochlear defect: report of three cases. Eur J Pediatr (2006) 0.76
CD44 is the principal cell surface receptor for hyaluronate. Cell (1990) 11.01
Population genetic studies of retinitis pigmentosa. Am J Hum Genet (1980) 3.51
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
Updating McKusick: an educational exercise for medical students. Am J Med Genet (1986) 3.47
Suggestion of linkage of a major locus for nonsyndromic orofacial cleft with F13A and tentative assignment to chromosome 6. Clin Genet (1987) 3.14
Salivary and pancreatic amylase: electrophoretic characterizations and genetic studies. Am J Hum Genet (1973) 3.12
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet (2003) 2.52
Cleft lip+/-cleft palate: an overview of the literature and an analysis of Danish cases born between 1941 and 1968. Am J Med Genet (1980) 2.51
Genetic epidemiological studies of early-onset deafness in the U.S. school-age population. Am J Med Genet (1993) 2.48
Genetic factors in determining bone mass. J Clin Invest (1973) 2.35
Segregation analysis of cleft lip with or without cleft palate: a comparison of Danish and Japanese data. Am J Hum Genet (1986) 2.23
A proposed classification for heritable human dentine defects with a description of a new entity. Arch Oral Biol (1973) 2.16
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. J Med Genet (2005) 2.11
Improved outcome in Pierre Robin sequence: effect of multidisciplinary evaluation and management. Pediatrics (1990) 1.92
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities. J Med Genet (2005) 1.71
Multiple pterygium syndrome. Am J Dis Child (1978) 1.71
Predicting zygosity in Norwegian twin pairs born 1915-1960. Clin Genet (1983) 1.68
Genetic models for the analysis of data from the families of identical twins. Genetics (1976) 1.67
The ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Report of 2 cases and review of the literature. Clin Genet (1972) 1.63
Pycnodysostosis, with a familial chromosome anomaly. Am J Med (1966) 1.60
Dermatoglyphic nomogram for the diagnosis of Down's syndrome. J Pediatr (1970) 1.56
Myelocystocele-cloacal exstrophy in a pedigree with a mitochondrial 12S rRNA mutation, aminoglycoside-induced deafness, pigmentary disturbances, and spinal anomalies. Teratology (2000) 1.54
Systemic membrane defect in the proximal muscular dystrophies. N Engl J Med (1978) 1.52
II. Recent innovations in human genetics education: The curricularization of McKusick. Am J Hum Genet (1987) 1.49
Education policy and the heritability of educational attainment. Nature (1985) 1.48
Genetic analysis of cleft lip with or without cleft palate in Danish kindreds. Am J Med Genet (1984) 1.48
Preimplantation genetic testing for Huntington disease and certain other dominantly inherited disorders. Clin Genet (1996) 1.46
Cleft lip with or without cleft palate in Shanghai, China: evidence for an autosomal major locus. Am J Hum Genet (1992) 1.38
Genetic analysis in families with van der Woude syndrome. J Craniofac Genet Dev Biol (1985) 1.37
Major gene determination of liability to cleft lip with or without cleft palate: a multiracial view. J Craniofac Genet Dev Biol Suppl (1986) 1.36
Human salivary amylase: genetics of electrophoretic variants. Am J Hum Genet (1971) 1.33
A genetic study of anodontia in X-linked hypohidrotic ectodermal dysplasia. Am J Hum Genet (1980) 1.31
Congenital X-linked cataract, dental anomalies and brachymetacarpalia. Birth Defects Orig Artic Ser (1974) 1.30
Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures. Birth Defects Orig Artic Ser (1975) 1.29
Incidence of cleft lip and palate in the offspring of cleft parents. Clin Genet (1971) 1.29
Attitudes of deaf and hard of hearing subjects towards genetic testing and prenatal diagnosis of hearing loss. J Med Genet (2002) 1.28
Simplified method for collection of pure submandibular saliva in large volumes. J Dent Res (1968) 1.28
External ear malformations: epidemiology, genetics, and natural history. Birth Defects Orig Artic Ser (1979) 1.28
The Nance-Horan syndrome: a rare X-linked ocular-dental trait with expression in heterozygous females. Clin Genet (1984) 1.27
Genetic Control of Hemoglobin Synthesis. Science (1963) 1.27
Effects of chorion type on variation in cord blood cholesterol of monozygotic twins. Am J Hum Genet (1976) 1.26
Urorectal septum malformation sequence. Report of six cases and embryological analysis. Am J Dis Child (1987) 1.26
The neurogenic genes egghead and brainiac define a novel signaling pathway essential for epithelial morphogenesis during Drosophila oogenesis. Development (1996) 1.25
Clinical heterogeneity in 80 home-reared children with cri du chat syndrome. J Pediatr (1983) 1.24
Autosomal recessive oculocutaneous albinism in man. Evidence for genetic heterogeneity. Am J Hum Genet (1970) 1.23
Phenotypic variation in the popliteal pterygium syndrome. Clin Genet (1973) 1.21
Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship. Am J Med Genet (1981) 1.21
Apparent cri-du-chat and "antimongolism" in one patient. Lancet (1966) 1.20
Genetic counseling for the hearing impaired. Audiology (1972) 1.20
Cleft palate: a genetic and epidemiologic investigation. Clin Genet (1981) 1.20
The acrocephalosyndactyly syndromes: a metacarpophalangeal pattern profile analysis. Clin Genet (1977) 1.18
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness. J Med Genet (2001) 1.17
Dentin dysplasia type I: a scanning electron microscopic analysis of the primary dentition. Oral Surg Oral Med Oral Pathol (1980) 1.16
X-linked mixed deafness with congenital fixation of the stapedial footplate and perilymphatic gusher. Birth Defects Orig Artic Ser (1971) 1.15
Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity. J Med Genet (1997) 1.15
Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet (2000) 1.15
On the classification of the acrocephalosyndactyly syndromes. Clin Genet (1977) 1.15
Orientation of loci within the human major histocompatibility complex by chromosomal in situ hybridization. Proc Natl Acad Sci U S A (1984) 1.14
Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia. Am J Hum Genet (1999) 1.14
Sonic hedgehog signaling plays an essential role during embryonic salivary gland epithelial branching morphogenesis. Dev Dyn (2004) 1.14
Human blood pressure and the ABO blood group system: an apparent association. Hum Biol (1965) 1.14
Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q. Genomics (1996) 1.14
Scanning electron microscopy of teeth in dominant osteogenesis imperfecta: support for genetic heterogeneity. Am J Med Genet (1980) 1.10
Allelic restriction: a biologic alternative to multifactorial threshold inheritance. Lancet (1976) 1.10
Brain damage in survivor after in-utero death of monozygous co-twin. Lancet (1977) 1.09
Tay-Sachs disease: a genetic-historical view of selective advantage. Prog Clin Biol Res (1977) 1.09
Descriptive epidemiology of nonsyndromic cleft lip with or without cleft palate in Shanghai, China, from 1980 to 1989. Cleft Palate Craniofac J (2000) 1.09
Diagnostic criteria for the whistling face syndrome. Birth Defects Orig Artic Ser (1975) 1.09
Mutations in GJA1 (connexin 43) are associated with non-syndromic autosomal recessive deafness. Hum Mol Genet (2001) 1.08
Femoral duplication: a case report. Am J Med Genet (1989) 1.07
Prenatal detection of a familial nuchal bleb simulating encephalocele. Birth Defects Orig Artic Ser (1979) 1.07
Hypertelorism, microtia, and facial clefting. A newly described inherited syndrome. Am J Dis Child (1969) 1.07
Periodontosis: a phenotypic and genetic analysis. Oral Surg Oral Med Oral Pathol (1976) 1.07
Bivariate genetic analysis of left ventricular mass and weight in pubertal twins (the Medical College of Virginia twin study). Am J Cardiol (1991) 1.07
Trisomy 8 syndrome. Pediatrics (1975) 1.06
Parental determinants of birth weight. Clin Genet (1984) 1.06
Autosomal dominant maxillofacial dysostosis. Birth Defects Orig Artic Ser (1977) 1.06
Quantitative studies of glucose-6-phosphate dehydrogenase. Am J Hum Genet (1977) 1.05
Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program. N Engl J Med (1985) 1.03
Sampling variances in twin and sibling studies of man. Hum Hered (1974) 1.03
One X and four hypotheses: response to Lehrke's "A Theory of X-Linkage of Major Intellectual Traits. Am J Ment Defic (1972) 1.03
Symposium on sensorineural hearing loss in children: early detection and intervention. Genetic factors in deafness of early life. Otolaryngol Clin North Am (1975) 1.03
The epidemiology of pregnancy complications and outcome in a Norwegian twin population. Obstet Gynecol (1992) 1.03
Letter: Note on the analysis of twin data. Am J Hum Genet (1976) 1.02
Partitioned twin analysis: a power study. Behav Genet (1989) 1.02
Genetic analysis of dermatoglyphic patterns in twins. Hum Hered (1975) 1.02
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations. Hum Genet (1998) 1.02
Autosomal dominant branchiootorenal dysplasia. Birth Defects Orig Artic Ser (1975) 1.01
Dual function of Ras in Raf activation. Development (1998) 1.00
Multiclonal outbreak of methicillin-resistant Staphylococcus aureus infections on a collegiate football team. Epidemiol Infect (2008) 0.99
Stain intensity of human nucleolus organizer region reflects incorporation of uridine into mature ribosomal RNA. Exp Cell Res (1983) 0.99