Published in J Med Genet on January 01, 2000
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys Acta (2012) 1.34
DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls. Am J Med Genet A (2006) 1.28
Connexin mutations in skin disease and hearing loss. Am J Hum Genet (2001) 1.03
Identification of a locus for type I punctate palmoplantar keratoderma on chromosome 15q22-q24. J Med Genet (2003) 1.01
A novel N14Y mutation in Connexin26 in keratitis-ichthyosis-deafness syndrome: analyses of altered gap junctional communication and molecular structure of N terminus of mutated Connexin26. Am J Pathol (2006) 0.98
Gap junctions in inherited human disease. Pflugers Arch (2010) 0.97
GJB2 Gene Mutations in Syndromic Skin Diseases with Sensorineural Hearing Loss. Curr Genomics (2011) 0.96
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet (2013) 0.94
Palmoplantar keratoderma along with neuromuscular and metabolic phenotypes in Slurp1-deficient mice. J Invest Dermatol (2014) 0.88
Viral vector tropism for supporting cells in the developing murine cochlea. Hear Res (2011) 0.85
Two Iranian families with a novel mutation in GJB2 causing autosomal dominant nonsyndromic hearing loss. Am J Med Genet A (2011) 0.82
Connexins and gap junctions in the inner ear--it's not just about K⁺ recycling. Cell Tissue Res (2014) 0.80
Characterization of spectrum, de novo rate and genotype-phenotype correlation of dominant GJB2 mutations in Chinese hans. PLoS One (2014) 0.79
Do cell junction protein mutations cause an airway phenotype in mice or humans? Am J Respir Cell Mol Biol (2011) 0.77
Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. J Korean Med Sci (2010) 0.76
Connexinopathies: a structural and functional glimpse. BMC Cell Biol (2016) 0.75
A de novo 2.9 Mb interstitial deletion at 13q12.11 in a child with developmental delay accompanied by mild dysmorphic characteristics. Mol Cytogenet (2014) 0.75
A Novel De Novo Dominant Mutation in GJB2 Gene Associated with a Sporadic Case of Nonsyndromic Sensorineural Hearing Loss. Iran J Public Health (2014) 0.75
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet (2001) 6.96
Genetic control of the circulating concentration of transforming growth factor type beta1. Hum Mol Genet (1999) 3.08
Vitamin D supplements in pregnant Asian women: effects on calcium status and fetal growth. Br Med J (1980) 2.75
Transforming growth factor-beta1 gene polymorphisms and coronary artery disease. Clin Sci (Lond) (1998) 2.68
The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. Nat Genet (2001) 2.46
Genetically determined electrophoretic variations of human phosphogluconate dehydrogenase. Acta Genet Stat Med (1968) 2.39
Cardiological assessment of first-degree relatives in sudden arrhythmic death syndrome. Lancet (2003) 2.25
Interleukin-1 receptor antagonist gene polymorphism and coronary artery disease. Circulation (1999) 2.17
Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2. Nat Genet (2000) 2.14
The EEG in early diagnosis of the Angelman (happy puppet) syndrome. Eur J Pediatr (1988) 1.90
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. Am J Hum Genet (2007) 1.88
A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology (2008) 1.81
Angiotensin-converting enzyme gene deletion polymorphism. A new risk factor for lacunar stroke but not carotid atheroma. Stroke (1995) 1.77
Coagulation-factor deficiencies and abnormal bleeding in Noonan's syndrome. Lancet (1992) 1.72
Blood lead concentrations in hereditary hemochromatosis. J Lab Clin Med (1994) 1.71
Mapping a gene for Noonan syndrome to the long arm of chromosome 12. Nat Genet (1994) 1.58
Homozygous mutation of desmocollin-2 in arrhythmogenic right ventricular cardiomyopathy with mild palmoplantar keratoderma and woolly hair. Cardiology (2008) 1.57
A study of consanguinity in the Sultanate of Oman. Ann Hum Biol (2000) 1.49
Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. Am J Hum Genet (1994) 1.48
Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. Clin Genet (2009) 1.46
Association of hypertension with T594M mutation in beta subunit of epithelial sodium channels in black people resident in London. Lancet (1998) 1.42
The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies. Am J Hum Genet (1997) 1.37
Isoenzymes of phosphoglucose isomerase in mice. Nature (1967) 1.30
TBX22 mutations are a frequent cause of cleft palate. J Med Genet (2004) 1.30
The natural history of Noonan syndrome: a long-term follow-up study. Arch Dis Child (2006) 1.29
Role of C-terminal B-chain residues in insulin assembly: the structure of hexameric LysB28ProB29-human insulin. Structure (1995) 1.28
A Noonan-like short stature syndrome with sparse hair. J Med Genet (1986) 1.22
A study of human leukocyte D locus related antigens in Graves' disease. J Clin Invest (1979) 1.21
The clinical spectrum of the Fraser syndrome: report of three new cases and review. J Med Genet (1987) 1.20
Variation in the composition of breast milk during the first 5 weeks of lactation: implications for the feeding of preterm infants. Arch Dis Child (1982) 1.20
Abdominal ultrasound in Noonan syndrome: a study of 44 patients. Pediatr Radiol (1993) 1.17
Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart (2008) 1.17
Mannosidosis in two brothers: prolonged survival in the severe phenotype. Clin Genet (1982) 1.16
A computerized approach to dysmorphology. MD Comput (1987) 1.15
Cutis laxa and the Costello syndrome. J Med Genet (1993) 1.11
Psychological profile of children with Noonan syndrome. Dev Med Child Neurol (2005) 1.10
Vitamin-D metabolism in nephrotic syndrome. Lancet (1977) 1.09
Rapid diagnosis of thyroid disease using carbonic-anhydrase immunoassay. Lancet (1976) 1.08
Reduced penetrance in tuberous sclerosis. J Med Genet (1985) 1.07
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype. Am J Hum Genet (2001) 1.06
Non-enzymatic glycosylation of the dipeptide L-carnosine, a potential anti-protein-cross-linking agent. FEBS Lett (1995) 1.05
Benign X-linked myopathy with acanthocytes (McLeod syndrome). Its relationship to X-linked muscular dystrophy. Brain (1983) 1.04
Common polymorphisms in SOCS3 are not associated with body weight, insulin sensitivity or lipid profile in normal female twins. Diabetologia (2006) 1.03
Mutation detection in long QT syndrome: a comprehensive set of primers and PCR conditions. J Med Genet (2001) 1.03
Testosterone-induced, sulfonamide-resistant carbonic anhydrase isozyme of rat liver is indistinguishable from skeletal muscle carbonic anhydrase III. FEBS Lett (1981) 1.03
Ectrodactyly of hands and feet in a child with a complex translocation including 7q21.2. Am J Med Genet (1991) 1.01
Leptin requirement for conception, implantation, and gestation in the mouse. Endocrinology (2001) 1.01
Neural tube defects and congenital hydrocephalus in the Sultanate of Oman. J Trop Pediatr (1998) 1.00
Major factors determining the frequencies of hemoglobinopathies in Oman. Am J Med Genet (1997) 1.00
Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts. Circulation (1999) 1.00
Cardiac troponins and creatine kinase content of striated muscle in common laboratory animals. Clin Chim Acta (2001) 0.99
Sexual differentiation of rat liver carbonic anhydrase III. Biochim Biophys Acta (1983) 0.99
Moore-Federman syndrome and acromicric dysplasia: are they the same entity? J Med Genet (1989) 0.99
Angiotensin converting enzyme insertion/deletion polymorphism: association with ethnic origin. J Hypertens (1994) 0.99
Phosphoglucomutase polymorphism detected by isoelectric focusing: gene frequencies, evolution and linkage. Ann Hum Biol (1979) 0.98
The clinical features of the Cohen syndrome: further case reports. J Med Genet (1985) 0.97
Angiotensin converting enzyme gene I/D polymorphism, blood pressure and the renin-angiotensin system in Caucasian and Afro-Caribbean peoples. J Hum Hypertens (1996) 0.97
A comparison of protein concentrations and energy in breast milk from preterm and term mothers. J Hum Nutr (1981) 0.96
The short-term effects of growth hormone therapy on height velocity and cardiac ventricular wall thickness in children with Noonan's syndrome. J Clin Endocrinol Metab (1996) 0.96
Association between the C825T polymorphism of the G protein beta3-subunit gene and hypertension in blacks. Hypertension (1999) 0.96
Non-Mendelian transmission in a human developmental disorder: split hand/split foot. Am J Hum Genet (1994) 0.96
Membrane-bound carbonic anhydrase in human retinal pigment epithelium. Invest Ophthalmol Vis Sci (1994) 0.96
Plasma phosphoglycerate mutase as a marker of muscular dystrophy. J Neurol Sci (1984) 0.95
Myocardial disarray in Noonan syndrome. Br Heart J (1992) 0.95
Plasma vitamin D-binding globulin in vitamin D deficiency, pregnancy and chronic liver disease. Clin Chim Acta (1978) 0.95
Analysis of the population structure in Oman. Community Genet (1999) 0.93
Inherited variants of human red cell carbonic anhydrases. Hemoglobin (1980) 0.93
Brain and atrial natriuretic peptide plasma concentrations in normal healthy children. Br J Biomed Sci (1993) 0.91
Further delineation of the DOOR syndrome. Clin Dysmorphol (2000) 0.91
Silver syndrome is not linked to any of the previously established autosomal dominant hereditary spastic paraplegia loci. Am J Med Genet (2001) 0.91
Carbonic anhydrase and cardiac pH regulation. Am J Physiol (1996) 0.90
Study of hemoglobinopathies in Oman through a national register. Saudi Med J (2000) 0.90
Human milk and preterm formula compared for effects on growth and metabolism. Arch Dis Child (1987) 0.90
Congenital trichomegaly, pigmentary retinal degeneration, and short stature. Am J Ophthalmol (1986) 0.90
Vitamin D binding globulin phenotypes in liver disease. Clin Chim Acta (1979) 0.90
Localization of carbonic anhydrase IV in rat and human heart muscle. J Histochem Cytochem (1998) 0.90
A family with craniofrontonasal dysplasia, and fragile site 12q13 segregating independently. Clin Genet (1986) 0.90
Growth hormone therapy and growth in children with Noonan's syndrome: results of 3 years' follow-up. J Clin Endocrinol Metab (2001) 0.89
Congenital and genetic disorders in the Sultanate of Oman. First attempt to assess healthcare needs. J Community Genet (2014) 0.89
Studies of cardiopulmonary bypass in children: implications for the regulation of brain natriuretic peptide. Cardiovasc Res (1993) 0.88
Nucleotide sequence and chromosomal assignment of a cDNA encoding the large isoform of human glutamate decarboxylase. Ann Hum Genet (1992) 0.88
Three new cases of oculodentodigital (ODD) syndrome: development of the facial phenotype. J Med Genet (1985) 0.88
Novel nonsense mutation of the endothelin-B receptor gene in a family with Waardenburg-Hirschsprung disease. Am J Med Genet (1999) 0.88
Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations. J Med Genet (1992) 0.88
Effects of hypophysectomy and growth hormone infusion on rat hepatic carbonic anhydrases. J Endocrinol (1986) 0.88
Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish. Heart (2008) 0.87
Floating-Harbor syndrome: description of a further patient, review of the literature, and suggestion of autosomal dominant inheritance. Eur J Pediatr (1995) 0.87
Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene. Hum Mutat (2003) 0.87
Immunocytochemical localization of mitochondrial carbonic anhydrase in rat tissues. J Histochem Cytochem (1991) 0.87
Agenesis of the corpus callosum in Turner syndrome with ring X. Dev Med Child Neurol (1997) 0.87
Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24. J Med Genet (1995) 0.87
Immunocytochemical localization of carbonic anhydrase isozymes I, II, and III in rat skeletal muscle. J Histochem Cytochem (1986) 0.87
Carbonic anhydrase isozymes in Cavia porcellus, Cavia aperea and their hybrids. Comp Biochem Physiol B (1972) 0.87
Androgen-linked control of rat liver carbonic anhydrase III. Biosci Rep (1983) 0.87
Carbonic anhydrase IV activity is localized on the exterior surface of human erythrocytes. Acta Physiol Scand (1999) 0.87
Familial microtia with meatal atresia and conductive deafness in five generations. Am J Med Genet (1995) 0.87