Published in Br J Haematol on October 01, 1990
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Screening the 3' region of the polycystic kidney disease 1 (PKD1) gene reveals six novel mutations. Am J Hum Genet (1996) 1.47
Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach. Am J Hum Genet (1997) 1.21
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A laboratory strategy for genotyping haemoglobin H disease in the Chinese. J Clin Pathol (2006) 0.78
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Severe α-thalassemia intermedia due to a compound heterozygosity for the highly unstable Hb Adana (HBA2: c.179G>A) and a novel codon 24 (HBA2: c.75T>A) mutation. Hemoglobin (2013) 0.75
Nucleotide sequences of the genes coding for the TEM-like beta-lactamases IRT-1 and IRT-2 (formerly called TRI-1 and TRI-2). FEMS Microbiol Lett (1994) 2.24
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet (1997) 1.79
Molecular diversity and evolution of blaTEM genes encoding beta-lactamases resistant to clavulanic acid in clinical E. coli. J Mol Evol (1997) 1.69
Geography of HFE C282Y and H63D mutations. Genet Test (2000) 1.62
Dissecting the loci controlling fetal haemoglobin production on chromosomes 11p and 6q by the regressive approach. Nat Genet (1996) 1.57
Point mutation in the pribnow box, the molecular basis of beta-lactamase overproduction in Klebsiella oxytoca. Antimicrob Agents Chemother (1995) 1.53
Born to clot: the European burden. Br J Haematol (1999) 1.45
Management of advanced ARDS complicated by bilateral pneumothoraces with high-frequency oscillatory ventilation in an adult. Br J Anaesth (2004) 1.45
A simple, sensitive method of analyzing bacterial ribosomal DNA polymorphism. Electrophoresis (1989) 1.43
Effect of alpha-thalassemia on sickle-cell anemia linked to the Arab-Indian haplotype in India. Am J Hematol (1997) 1.40
Properties of IRT-14 (TEM-45), a newly characterized mutant of TEM-type beta-lactamases. Antimicrob Agents Chemother (1997) 1.39
The hematologic characteristics of sickle cell anemia bearing the Bantu haplotype: the relationship between G gamma and HbF level. Blood (1987) 1.29
Correlation between ribosomal DNA polymorphism and electrophoretic enzyme polymorphism in Yersinia. J Gen Microbiol (1990) 1.26
A novel sickle cell mutation of yet another origin in Africa: the Cameroon type. Hum Genet (1992) 1.23
Characterization of highly virulent Escherichia coli strains by ribosomal DNA restriction fragment length polymorphism. FEMS Microbiol Lett (1991) 1.23
Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. Am J Hum Genet (2001) 1.19
Molecular pathogenesis and clinical variability of beta-thalassemia syndromes among Indians. Am J Hematol (2001) 1.18
Hydroxyurea downregulates endothelin-1 gene expression and upregulates ICAM-1 gene expression in cultured human endothelial cells. Pharmacogenomics J (2003) 1.17
Potential of denaturing gradient gel electrophoresis for scanning of beta-thalassemia mutations in India. Am J Hematol (1999) 1.16
Candidate genetic modifiers of individual susceptibility to renal cell carcinoma: a study of polymorphic human xenobiotic-metabolizing enzymes. Cancer Res (1999) 1.16
Detection of a major gene for heterocellular hereditary persistence of fetal hemoglobin after accounting for genetic modifiers. Am J Hum Genet (1994) 1.15
Hepatic glucokinase is induced by dietary carbohydrates in rainbow trout, gilthead seabream, and common carp. Am J Physiol Regul Integr Comp Physiol (2000) 1.13
A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. Hum Mol Genet (1996) 1.10
Cholestasis and biliary dilatation associated with chronic ketamine abuse: a case series. Singapore Med J (2011) 1.09
Assessment of heavy metals (Cd, Cr and Pb) in water, sediment and seaweed (Ulva lactuca) in the Pulicat Lake, South East India. Chemosphere (2008) 1.09
Reverse cascade screening of newborns for hereditary haemochromatosis: a model for other late onset diseases? J Med Genet (2005) 1.08
Allele and genotype frequency of CYP2C19 in a Tamilian population. Br J Clin Pharmacol (2003) 1.08
Spectrum of beta thalassemia mutations and their linkage to beta-globin gene haplotypes in the Indo-Mauritians. Am J Hematol (2000) 1.08
DNA sequence variation in a negative control region 5' to the beta-globin gene correlates with the phenotypic expression of the beta s mutation. Blood (1992) 1.08
Origin and spread of beta-globin gene mutations in India, Africa, and Mediterranea: analysis of the 5' flanking and intragenic sequences of beta S and beta C genes. Hum Biol (1991) 1.08
Mannose-binding lectin alleles in sub-Saharan Africans and relation with susceptibility to infections. Genes Immun (2003) 1.07
HbS-oman heterozygote: a new dominant sickle syndrome. Blood (1998) 1.03
Isolation of mercury resistant bacteria and influence of abiotic factors on bioavailability of mercury -- a case study in Pulicat Lake North of Chennai, South East India. Sci Total Environ (2006) 0.99
Spectrum of beta-thalassemia mutations in Oman. Ann N Y Acad Sci (1998) 0.98
Genetic epidemiology of HbS in Oman: multicentric origin for the betaS gene. Am J Hematol (2000) 0.97
Rapid analysis of -alpha 3.7 thalassaemia and alpha alpha alpha anti 3.7 triplication by enzymatic amplification analysis. Br J Haematol (1993) 0.96
Allele and genotype frequency of CYP2C9 in Tamilnadu population. Eur J Clin Pharmacol (2003) 0.96
Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements. Hum Mol Genet (1996) 0.95
Atypical beta(s) haplotypes are generated by diverse genetic mechanisms. Am J Hematol (2000) 0.94
Study of the role of the highly conserved residues Arg9 and Arg64 in the catalytic function of human N-acetyltransferases NAT1 and NAT2 by site-directed mutagenesis. Biochem J (1997) 0.94
An unequal cross-over event within the CYP2D gene cluster generates a chimeric CYP2D7/CYP2D6 gene which is associated with the poor metabolizer phenotype. Br J Clin Pharmacol (1995) 0.93
Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy. Hum Genet (1996) 0.92
A novel approach to study of the structural basis of enzyme polymorphism. Analysis of carboxylesterase B of Escherichia coli as model. Biochem J (1987) 0.92
Molecular characteristics of Human Endogenous Retrovirus type-W in schizophrenia and bipolar disorder. Transl Psychiatry (2012) 0.92
Genotyping of the polymorphic N-acetyltransferase (NAT2*) gene locus in two native African populations. Pharmacogenetics (1996) 0.91
Association of GSTT1 non-null and NAT1 slow/rapid genotypes with von Hippel-Lindau tumour suppressor gene transversions in sporadic renal cell carcinoma. Pharmacogenetics (2001) 0.91
The 16189 variant of mitochondrial DNA occurs more frequently in C282Y homozygotes with haemochromatosis than those without iron loading. J Med Genet (2004) 0.91
A novel beta thalassemia gene with a single base mutation in the conserved polypyrimidine sequence at the 3' end of IVS 2. Nucleic Acids Res (1988) 0.91
Influence of thyroid status on hemoglobin A2 expression. J Clin Endocrinol Metab (1983) 0.90
A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis. J Intern Med (2003) 0.90
Randomized trial of two different conditioning regimens for bone marrow transplantation in thalassemia--the role of busulfan pharmacokinetics in determining outcome. Bone Marrow Transplant (2005) 0.89
Investigation of the polymorphic ScaI site by a PCR-based assay at the human atrial natriuretic peptides (hANP) gene locus. Hum Genet (1992) 0.89
Cytochrome P450IID6 recognized by LKM1 antibody is not exposed on the surface of hepatocytes. Clin Exp Immunol (1993) 0.88
Phenotypic study of resistance of beta-lactamase-inhibitor-resistant TEM enzymes which differ by naturally occurring variations and by site-directed substitution at Asp276. Antimicrob Agents Chemother (1998) 0.88
Recent advances in understanding haemochromatosis: a transition state. J Med Genet (2004) 0.88
Distribution of CYP2C19*17 allele and genotypes in an Indian population. J Clin Pharm Ther (2011) 0.87
Comparative study of Mycobacterium paratuberculosis strains isolated from Crohn's disease and Johne's disease using restriction fragment length polymorphism and arbitrarily primed polymerase chain reaction. Epidemiol Infect (1997) 0.87
Anthropogenetical analysis of abnormal human alpha-globin gene cluster arrangement on chromosome 16. Coll Antropol (2000) 0.86
Three major G6PD-deficient polymorphic variants identified among the Mauritian population. Br J Haematol (1999) 0.86
Characterization of Escherichia hermannii by ribosomal DNA restriction fragment length polymorphism. Res Microbiol (1994) 0.86
N-acetylation genotype and risk of severe reactions to sulphonamides in AIDS patients. Br J Clin Pharmacol (1994) 0.85
DNA haplotype-dependent differences in the amino acid sequence of debrisoquine 4-hydroxylase (CYP2D6): evidence for two major allozymes in extensive metabolisers. Hum Genet (1994) 0.85
Vitreous disposition of two acycloguanosine antivirals in the albino and pigmented rabbit models: a novel ocular microdialysis technique. J Ocul Pharmacol Ther (1996) 0.85
The physicochemical properties, plasma enzymatic hydrolysis, and nasal absorption of acyclovir and its 2'-ester prodrugs. Pharm Res (1994) 0.85
Differences in DNase I sensitivity and methylation within the human beta-globin gene domain and correlation with expression. Eur J Biochem (1986) 0.85
A new hemoglobin variant altering the alpha 1 beta 2 contact: Hb Chemilly alpha 2 beta 2 99(G1)Asp leads to Val. FEBS Lett (1984) 0.85
Glutathione S-transferase activity influences busulfan pharmacokinetics in patients with beta thalassemia major undergoing bone marrow transplantation. Drug Metab Dispos (2001) 0.84
Molecular basis of beta-thalassemia in Bahrain: an epicenter for a Middle East specific mutation. Ann N Y Acad Sci (1998) 0.84
A gene conversion located 5' to the A gamma gene in linkage disequilibrium with the Bantu haplotype in sickle cell anemia. J Clin Invest (1989) 0.84
The effect of the CYP2C19 genotype on the hydroxylation index of omeprazole in South Indians. Eur J Clin Pharmacol (2005) 0.84
A novel silent posttranslational mechanism converts methionine to aspartate in hemoglobin Bristol (beta 67[E11] Val-Met->Asp). Blood (1996) 0.84
Genetic heterogeneity in heterocellular hereditary persistence of fetal hemoglobin. Blood (1997) 0.83
HLA class II haplotype studies bring molecular evidence for population affinity between Madagascans and Javanese. Tissue Antigens (1995) 0.83
Study of CYP2D6 gene in children with autoimmune hepatitis and P450 IID6 autoantibodies. Clin Exp Immunol (1992) 0.83
Expression of a beta thalassemia gene with abnormal splicing. Nucleic Acids Res (1987) 0.83
DNA haplotype dependency of debrisoquine 4-hydroxylase (CYP2D6) expression among extensive metabolisers. Hum Genet (1993) 0.83
Heterogeneous ethnic distribution of the 844ins68 in the cystathionine beta-synthase gene. Hum Hered (1999) 0.83
Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. The European Haemochromatosis Consortium. Nat Genet (1999) 0.83
Glutathione S-transferase M1 and T1 null genotype distribution in South Indians. Eur J Clin Pharmacol (2004) 0.83
Genetic epidemiology of beta-thalassemia in Sicily: do sequences 5' to the G gamma gene and 5' to the beta gene interact to enhance HbF expression in beta-thalassemia? Am J Hematol (1992) 0.83
Effect of acylation on the ocular disposition of acyclovir. I: Synthesis, physicochemical properties, and antiviral activity of 2'-esters. J Ocul Pharmacol (1993) 0.83
A novel HLA-B*39 allele (HLA-B*3916) due to a rare mutation causing cryptic splice site activation. Hum Immunol (2000) 0.82
Analysis of the molecular relatedness of four extended spectrum beta-lactamases (SHV-2, SHV-3, SHV-4 and SHV-5) by comparative protein titration curves. J Antimicrob Chemother (1989) 0.82
Effects of hydroxyurea on malaria, parasite growth and adhesion in experimental models. Parasite Immunol (2006) 0.81
Inter-ethnic polymorphism of the beta-globin gene locus control region (LCR) in sickle-cell anemia patients. Hum Genet (1993) 0.81
[Advances in iron metabolism: a transition state]. Rev Med Interne (2004) 0.81
Atypical haplotypes linked to the beta S gene in Africa are likely to be the product of recombination. Am J Hematol (1988) 0.81
Titration curves of liganded hemoglobins by combined isoelectric focusing-electrophoresis. FEBS Lett (1978) 0.81
Reduced variability in Y-chromosome-specific haplotypes for some Central African populations. Hum Biol (1994) 0.81
Congenital enzymopenic methaemoglobinaemia. Clinical and biochemical study of a family with three homozygotes. Acta Haematol (1976) 0.81
Differential effects of anionic, cationic, nonionic, and physiologic surfactants on the dissociation, alpha-chymotryptic degradation, and enteral absorption of insulin hexamers. Pharm Res (1993) 0.81
Distinct phenotypes and genotypes of debrisoquine hydroxylation among Europeans and Chinese. Br J Clin Pharmacol (1991) 0.81
Pharmacokinetics of oral busulphan in children with beta thalassaemia major undergoing allogeneic bone marrow transplantation. Bone Marrow Transplant (1999) 0.81
Quantification of busulfan in plasma by gas chromatography-mass spectrometry following derivatization with tetrafluorothiophenol. J Chromatogr B Biomed Sci Appl (1998) 0.80
The influence of alpha-thalassaemia on the haematological & clinical expression of sickle cell disease in western India. Indian J Med Res (1998) 0.80
NcoI RFLP in the pseudogene (CYP2D8P) of the human debrisoquine 4-hydroxylase locus. Nucleic Acids Res (1991) 0.80
Comparison of molecular epidemiological tools for Branhamella catarrhalis typing. Res Microbiol (1991) 0.80