Published in Am J Hum Genet on March 01, 2000
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. Mol Vis (2010) 1.64
Trichoscopy in genetic hair shaft abnormalities. J Dermatol Case Rep (2008) 1.48
Membrane-anchored serine proteases in vertebrate cell and developmental biology. Annu Rev Cell Dev Biol (2011) 1.26
Matriptase initiates activation of epidermal pro-kallikrein and disease onset in a mouse model of Netherton syndrome. Nat Genet (2010) 1.09
Mendelian inheritance of elevated serum tryptase associated with atopy and connective tissue abnormalities. J Allergy Clin Immunol (2014) 0.92
Netherton syndrome with pili torti. Int J Trichology (2013) 0.86
Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article. J Assist Reprod Genet (2011) 0.79
Netherton syndrome: report of identical twins presenting with severe atopic dermatitis. Eur J Pediatr (2006) 0.75
A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature (1996) 27.61
Faster sequential genetic linkage computations. Am J Hum Genet (1993) 18.83
Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet (1996) 17.95
Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet (1995) 6.51
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell (1994) 5.21
The association of atopy with a gain-of-function mutation in the alpha subunit of the interleukin-4 receptor. N Engl J Med (1997) 5.07
Linkage analysis of IL4 and other chromosome 5q31.1 markers and total serum immunoglobulin E concentrations. Science (1994) 3.57
Genetic susceptibility to asthma--bronchial hyperresponsiveness coinherited with a major gene for atopy. N Engl J Med (1995) 2.98
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group. Nat Genet (1996) 2.40
Genes encoding structural proteins of epidermal cornification and S100 calcium-binding proteins form a gene complex ("epidermal differentiation complex") on human chromosome 1q21. J Invest Dermatol (1996) 2.30
Targeted disruption of the beta2 adrenergic receptor gene. J Biol Chem (1999) 2.28
Genetic polymorphisms of the beta 2-adrenergic receptor in nocturnal and nonnocturnal asthma. Evidence that Gly16 correlates with the nocturnal phenotype. J Clin Invest (1995) 2.17
A clinical and immunological study of Netherton's syndrome. Br J Dermatol (1994) 1.83
Evidence for a locus regulating total serum IgE levels mapping to chromosome 5. Genomics (1994) 1.81
Human beta-2 adrenoceptor gene polymorphisms are highly frequent in obesity and associate with altered adipocyte beta-2 adrenoceptor function. J Clin Invest (1997) 1.74
Computational and biological analysis of 680 kb of DNA sequence from the human 5q31 cytokine gene cluster region. Genome Res (1997) 1.69
Association of atopic dermatitis to the beta subunit of the high affinity immunoglobulin E receptor. Br J Dermatol (1998) 1.69
A unique case of trichorrhexis nodosa; bamboo hairs. AMA Arch Derm (1958) 1.61
Autosomal recessive retinitis pigmentosa caused by mutations in the alpha subunit of rod cGMP phosphodiesterase. Nat Genet (1995) 1.61
A new chromosomal protein essential for mitotic spindle assembly. Nature (1994) 1.46
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter gene. Nat Genet (1996) 1.44
Atopic dermatitis. Lancet (1998) 1.37
Neterton's syndrome and ichthyosis linearis circumflexa. Arch Dermatol (1969) 1.28
Netherton's syndrome: a syndrome of elevated IgE and characteristic skin and hair findings. J Allergy Clin Immunol (1995) 1.25
[Not Available]. Dermatologica (1949) 1.19
Multiple defects of the hair shaft in Netherton's disease. Association with ichthyosis linearis circumflexa. Br J Dermatol (1969) 1.11
Control of simian virus 40 DNA replication by the HeLa cell nuclear kinase casein kinase I. Mol Cell Biol (1993) 1.09
Stimulus-dependent phosphorylation of G-protein-coupled receptors by casein kinase 1alpha. J Biol Chem (1997) 1.08
A casein kinase I isoform is required for proper cell cycle progression in the fertilized mouse oocyte. J Cell Sci (1997) 1.01
Severe congenital generalized exfoliative erythroderma in newborns and infants: a possible sign of Netherton syndrome. Pediatr Dermatol (1996) 0.97
Dinucleotide repeat polymorphism at the human interleukin 9 gene. Nucleic Acids Res (1991) 0.91
Evidence for linkage of total serum IgE and bronchial hyperresponsiveness to chromosome 5q: a major regulatory locus important in asthma. Clin Exp Allergy (1995) 0.84
Neonatal hypernatraemia in two siblings with Netherton's syndrome. Br J Dermatol (1986) 0.83
Association study of asthma and atopy traits and chromosome 5q cytokine cluster markers. Clin Exp Allergy (1998) 0.82
Structure and organization of the human transglutaminase 3 gene: evolutionary relationship to the transglutaminase family. J Invest Dermatol (1994) 0.82
Genes that regulate eosinophilic inflammation. Am J Hum Genet (1999) 0.81
Lanceolate hair (lah): a recessive mouse mutation with alopecia and abnormal hair. J Invest Dermatol (1996) 0.80
A general test of association for quantitative traits in nuclear families. Am J Hum Genet (2000) 22.45
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature (1997) 6.89
Effect of inoculum and of beta-lactamase on the anti-staphylococcal activity of thirteen penicillins and cephalosporins. Antimicrob Agents Chemother (1975) 6.82
A conserved tripeptide sorts proteins to peroxisomes. J Cell Biol (1989) 6.59
Role of a p53 polymorphism in the development of human papillomavirus-associated cancer. Nature (1998) 6.16
GRR: graphical representation of relationship errors. Bioinformatics (2001) 6.09
Pedigree tests of transmission disequilibrium. Eur J Hum Genet (2000) 5.93
Chromosome-wide distribution of haplotype blocks and the role of recombination hot spots. Nat Genet (2003) 5.03
Heparin treatment in sinus venous thrombosis. Lancet (1991) 5.02
Wnt signaling and an APC-related gene specify endoderm in early C. elegans embryos. Cell (1997) 4.61
Chromosomal translocation t(1;19) results in synthesis of a homeobox fusion mRNA that codes for a potential chimeric transcription factor. Cell (1990) 4.60
Multipoint interval mapping of quantitative trait loci, using sib pairs. Am J Hum Genet (1995) 4.29
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet (1998) 3.94
Pupil-led sex education in England (RIPPLE study): cluster-randomised intervention trial. Lancet (2004) 3.86
X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet (2001) 3.86
A sib-pair approach to interval mapping of quantitative trait loci. Am J Hum Genet (1994) 3.84
Diagnosis of iron-deficiency anemia in the elderly. Am J Med (1990) 3.77
Extent and distribution of linkage disequilibrium in three genomic regions. Am J Hum Genet (2000) 3.68
Susceptibility of Staphylococcus aureus and Staphylococcus epidermidis to 65 antibiotics. Antimicrob Agents Chemother (1976) 3.59
Clinical validation and guidelines for the SCORAD index: consensus report of the European Task Force on Atopic Dermatitis. Dermatology (1997) 3.48
Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet (2000) 3.39
Infantile acute hemorrhagic edema of the skin: study of ten cases. J Am Acad Dermatol (1991) 3.33
A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q. Am J Hum Genet (2001) 3.26
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet (1999) 3.25
Mutant ras oncogenes upregulate VEGF/VPF expression: implications for induction and inhibition of tumor angiogenesis. Cancer Res (1995) 3.11
Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study. Lancet (1998) 3.03
Chinese herbs for eczema. Lancet (1990) 2.95
Adult paratesticular tumours. BJU Int (2002) 2.89
A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort. Am J Hum Genet (1999) 2.88
Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome. Nat Genet (2000) 2.85
Trans-ethnic fine mapping of a quantitative trait locus for circulating angiotensin I-converting enzyme (ACE). Hum Mol Genet (2001) 2.75
Defining hematoma expansion in intracerebral hemorrhage: relationship with patient outcomes. Neurology (2011) 2.67
The burden of cholera in the slums of Kolkata, India: data from a prospective, community based study. Arch Dis Child (2005) 2.59
Laboratory diagnosis of iron-deficiency anemia: an overview. J Gen Intern Med (1993) 2.59
A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature (1992) 2.49
Mortality in severely malnourished children with diarrhoea and use of a standardised management protocol. Lancet (1999) 2.47
Why is CpG suppressed in the genomes of virtually all small eukaryotic viruses but not in those of large eukaryotic viruses? J Virol (1994) 2.45
The impact of maternal BMI status on pregnancy outcomes with immediate short-term obstetric resource implications: a meta-analysis. Obes Rev (2008) 2.39
Association analysis in a variance components framework. Genet Epidemiol (2001) 2.38
Human papillomavirus infections in nonmelanoma skin cancers from renal transplant recipients and nonimmunosuppressed patients. J Natl Cancer Inst (1996) 2.28
Quantitative-trait locus for specific language and reading deficits on chromosome 6p. Am J Hum Genet (1999) 2.26
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations. J Med Genet (2005) 2.24
Hardy-Weinberg quality control. Ann Hum Genet (1999) 2.22
Computational DNA sequence analysis. Annu Rev Microbiol (1994) 2.18
Genome-wide pharmacogenetic investigation of a hepatic adverse event without clinical signs of immunopathology suggests an underlying immune pathogenesis. Pharmacogenomics J (2007) 2.17
Trends in maternal obesity incidence rates, demographic predictors, and health inequalities in 36,821 women over a 15-year period. BJOG (2007) 2.16
Antibiotic susceptibility of gram-negative bacilli isolated from blood cultures. Results of tests with 35 agents and strains from 169 patients at Boston City Hospital during 1972. Am J Med (1974) 2.13
The impact of genotyping error on family-based analysis of quantitative traits. Eur J Hum Genet (2001) 2.12
Keratin antigens in differentiating skin. Ann N Y Acad Sci (1985) 2.10
High levels of type VII collagen expression in recessive dystrophic epidermolysis bullosa cutaneous squamous cell carcinoma keratinocytes increases PI3K and MAPK signalling, cell migration and invasion. Br J Dermatol (2014) 2.09
Antibody markers of basal cells in complex epithelia. J Cell Sci (1990) 2.08
A genome-wide search for schizophrenia susceptibility genes. Am J Med Genet (1998) 2.07
Keratin expression in human mammary epithelial cells cultured from normal and malignant tissue: relation to in vivo phenotypes and influence of medium. J Cell Sci (1989) 2.07
Differentiation of Langerhans cells in Langerhans cell histiocytosis. Blood (2001) 2.07
Human papillomavirus infection and non-melanoma skin cancer in immunosuppressed and immunocompetent individuals. J Med Virol (2000) 2.03
Aspirin-like molecules that covalently inactivate cyclooxygenase-2. Science (1998) 2.03
Linkage of an American pedigree with palmoplantar keratoderma and malignancy (palmoplantar ectodermal dysplasia type III) to 17q24. Literature survey and proposed updated classification of the keratodermas. Arch Dermatol (1996) 2.00
Synthesis of avian oncornavirus DNA in infected chicken cells. J Virol (1974) 1.97
Appropriate acid suppression for the management of gastro-oesophageal reflux disease. Digestion (1992) 1.95
Natural selection and resistance to HIV. Nature (2001) 1.93
Advanced training for ambulance crews: implications from 403 consecutive patients with cardiac arrest managed by crews with simple training. Br Med J (Clin Res Ed) (1987) 1.92
Basal cell-specific and hyperproliferation-related keratins in human breast cancer. Am J Pathol (1991) 1.88
Expression of simple epithelial keratins 8 and 18 in epidermal neoplasia. J Invest Dermatol (1991) 1.87
A clinical and immunological study of Netherton's syndrome. Br J Dermatol (1994) 1.83
Evaluation of methotrexate and corticosteroids for the treatment of localized scleroderma (morphoea) in children. Br J Dermatol (2006) 1.80
Neonatal and infantile erythrodermas: a retrospective study of 51 patients. Arch Dermatol (2000) 1.79
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet (1996) 1.78
Fall in deaths from respiratory disease. Lancet (1991) 1.78
Guidelines for treatment of atopic eczema (atopic dermatitis) part I. J Eur Acad Dermatol Venereol (2012) 1.77
A simple method for automated allele binning in microsatellite markers. Genome Res (1997) 1.77
Propranolol for complicated infantile haemangiomas: a case series of 30 infants. Br J Dermatol (2010) 1.76
Inflammatory familial palmoplantar keratoderma: Greither's disease? Dermatology (1992) 1.75
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev (1996) 1.75
Simple training programme for ambulance personnel in the management of cardiac arrest in the community. Br Med J (Clin Res Ed) (1985) 1.74
Tracking patients who wander: ethics and technology. Lancet (1994) 1.74
A marker for Stevens-Johnson syndrome ...: ethnicity matters. Pharmacogenomics J (2006) 1.73
Genetic analysis of inflammatory bowel disease in a large European cohort supports linkage to chromosomes 12 and 16. Gastroenterology (1998) 1.73
Randomised clinical trial: relief of upper gastrointestinal symptoms by an acid pocket-targeting alginate-antacid (Gaviscon Double Action) - a double-blind, placebo-controlled, pilot study in gastro-oesophageal reflux disease. Aliment Pharmacol Ther (2014) 1.71
Blood transfusion. Nurs Stand (2002) 1.70
Association of atopic dermatitis to the beta subunit of the high affinity immunoglobulin E receptor. Br J Dermatol (1998) 1.69
Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol (1995) 1.69
Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet (1997) 1.68
Congenital cutaneous defects as complications in surviving co-twins. Aplasia cutis congenita and neonatal volkmann ischemic contracture of the forearm. Arch Dermatol (1998) 1.67
Gene polymorphism in Netherton and common atopic disease. Nat Genet (2001) 1.66
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum Mol Genet (1999) 1.65
Susceptibility of beta-hemolytic streptococci to 65 antibacterial agents. Antimicrob Agents Chemother (1976) 1.65
Idiopathic scrotal calcinosis is idiopathic. J Am Acad Dermatol (1991) 1.64
Binding of integrin alpha6beta4 to plectin prevents plectin association with F-actin but does not interfere with intermediate filament binding. J Cell Biol (1999) 1.64
Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet (2006) 1.64