Genotype phenotype correlation in Wilson's disease within families--a report on four south Indian families.

PubWeight™: 1.06‹?› | Rank: Top 15%

🔗 View Article (PMC 2738792)

Published in World J Gastroenterol on August 07, 2008


S Santhosh1, R V Shaji, C E Eapen, V Jayanthi, S Malathi, P Finny, N Thomas, M Chandy, G Kurian, G M Chandy

Author Affiliations

1: Department of Gastrointestinal Sciences Christian Medical College, Vellore, Tamil Nadu, India.

Articles cited by this

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci U S A (1993) 5.47

Diagnosis and phenotypic classification of Wilson disease. Liver Int (2003) 3.63

The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet (1995) 3.41

Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Am J Hum Genet (1997) 1.79

Detection of the His1069Gln mutation in Wilson disease by rapid polymerase chain reaction. Ann Intern Med (1997) 1.64

The Wilson's disease gene and phenotypic diversity. J Hepatol (2001) 1.29

Wilson disease: novel mutations in the ATP7B gene and clinical correlation in Brazilian patients. Hum Mutat (2004) 1.16

Efficient detection of mutations in Wilson disease by manifold sequencing. Genomics (1996) 1.14

Mutation spectrum and polymorphisms in ATP7B identified on direct sequencing of all exons in Chinese Han and Hui ethnic patients with Wilson's disease. Clin Genet (2003) 1.01

Liver copper storage and transport during development: implications for cytotoxicity. Am J Clin Nutr (1996) 1.00

Inbreeding and the incidence of childhood genetic disorders in Karnataka, South India. J Med Genet (1987) 0.98

The impact of apolipoprotein E genotypes on age at onset of symptoms and phenotypic expression in Wilson's disease. Brain (2000) 0.98

Hepatic copper metabolism: insights from genetic disease. Hepatology (2003) 0.95

Two families with Wilson disease in which siblings showed different phenotypes. J Hum Genet (2002) 0.91

Trends in consanguinity in South India. J Biosoc Sci (2001) 0.91

ATP7B mutations in families in a predominantly Southern Indian cohort of Wilson's disease patients. Indian J Gastroenterol (2007) 0.87

Wilson disease: identification of two novel mutations and clinical correlation in Eastern Chinese patients. World J Gastroenterol (2007) 0.87

The effect of consanguinity on pregnancy-induced hypertension. Aust N Z J Obstet Gynaecol (1992) 0.79

Articles by these authors

Human gene mutation database-a biomedical information and research resource. Hum Mutat (2000) 6.87

Effects of a polypill (Polycap) on risk factors in middle-aged individuals without cardiovascular disease (TIPS): a phase II, double-blind, randomised trial. Lancet (2009) 6.83

Matching using estimated propensity scores: relating theory to practice. Biometrics (1996) 6.73

Live attenuated malaria vaccine designed to protect through hepatic CD8⁺ T cell immunity. Science (2011) 4.72

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet (1996) 3.90

Epidemiological and clinical profile of irritable bowel syndrome in India: report of the Indian Society of Gastroenterology Task Force. Indian J Gastroenterol (2008) 2.61

Linkage disequilibrium fine mapping and haplotype association analysis of the tau gene in progressive supranuclear palsy and corticobasal degeneration. J Med Genet (2005) 2.56

Interpreting hospital mortality data. The role of clinical risk adjustment. JAMA (1989) 2.53

Limb-salvage treatment versus amputation for osteosarcoma of the distal end of the femur. J Bone Joint Surg Am (1986) 2.49

Treatment of acute myocardial infarction with anisoylated plasminogen streptokinase activator complex. Br Med J (Clin Res Ed) (1986) 2.33

D2 dopamine receptor gene (DRD2) Taq1 A polymorphism: reduced dopamine D2 receptor binding in the human striatum associated with the A1 allele. Pharmacogenetics (1997) 2.28

An absence of cutaneous neurofibromas associated with a 3-bp inframe deletion in exon 17 of the NF1 gene (c.2970-2972 delAAT): evidence of a clinically significant NF1 genotype-phenotype correlation. Am J Hum Genet (2006) 2.23

In vitro differentiation of Trypanosoma cruzi under chemically defined conditions. Mol Biochem Parasitol (1985) 2.20

Predicting hospital-associated mortality for Medicare patients. A method for patients with stroke, pneumonia, acute myocardial infarction, and congestive heart failure. JAMA (1989) 2.19

Investigation into celiac disease in Indian patients with portal hypertension. Indian J Gastroenterol (2014) 2.05

Inherited thrombophilia: Part 1. Thromb Haemost (1996) 2.00

Epidemiological study of ulcerative proctocolitis in Indian migrants and the indigenous population of Leicestershire. Gut (1992) 1.96

Unusual association of Kikuchi's disease and dengue virus infection evolving into systemic lupus erythematosus. J Indian Med Assoc (2000) 1.96

Risk factors for esophageal cancer in Coimbatore, southern India: a hospital-based case-control study. Indian J Gastroenterol (2004) 1.93

Prevalence and family risk of ulcerative colitis and Crohn's disease: an epidemiological study among Europeans and south Asians in Leicestershire. Gut (1993) 1.79

Treatment of children with newly diagnosed acute promyelocytic leukemia with arsenic trioxide: a single center experience. Leukemia (2004) 1.76

A closer look at water-related geologic activity on Mars. Science (2007) 1.71

Information requirements and sedation preferences of patients undergoing endoscopy of the upper gastrointestinal tract. Endoscopy (1991) 1.69

Mineralization of linear alkylbenzene sulfonate by a four-member aerobic bacterial consortium. Appl Environ Microbiol (1991) 1.68

Endoscopic mucosal biopsies are useful in distinguishing granulomatous colitis due to Crohn's disease from tuberculosis. Gut (1999) 1.62

Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet (2000) 1.61

Optical observations of comet Hale-Bopp (C/1995 O1) at large heliocentric distances before perihelion. Science (1997) 1.58

Epidemiology and symptom profile of gastroesophageal reflux in the Indian population: report of the Indian Society of Gastroenterology Task Force. Indian J Gastroenterol (2011) 1.49

Membranotomy for Budd-Chiari syndrome. Ann Thorac Surg (1990) 1.49

Striatal dopaminergic markers in dementia with Lewy bodies, Alzheimer's and Parkinson's diseases: rostrocaudal distribution. Brain (1999) 1.48

Microbial DNA profiling by multiplex terminal restriction fragment length polymorphism for forensic comparison of soil and the influence of sample condition. J Appl Microbiol (2008) 1.45

Otogenic intracranial abscess: concurrent craniotomy and mastoidectomy--changing trends in a developing country. Arch Otolaryngol Head Neck Surg (1998) 1.44

The dental caries experience of 5-year-old children in Great Britain (2005/6). Surveys co-ordinated by the British Association for the study of community dentistry. Community Dent Health (2007) 1.43

Long-term therapy with sulphasalazine protects against colorectal cancer in ulcerative colitis: a retrospective study of colorectal cancer risk and compliance with treatment in Leicestershire. Eur J Gastroenterol Hepatol (1996) 1.41

Infrequent occurrence of silent HBV infection among Indian patients with chronic liver disease. Indian J Gastroenterol (2001) 1.41

Measurement of quality of life for elderly people on dialysis. Br J Nurs (1992) 1.38

Genetic diagnosis of haemophilia and other inherited bleeding disorders. Haemophilia (2006) 1.36

Associations of fat distribution and obesity with hypertension in a bi-ethnic population: the ARIC study. Atherosclerosis Risk in Communities Study. Obes Res (2000) 1.35

Modern treatment of haemophilia. Bull World Health Organ (1995) 1.35

Inherited thrombophilia: Part 2. Thromb Haemost (1996) 1.34

Rain, winds and haze during the Huygens probe's descent to Titan's surface. Nature (2005) 1.34

SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype. J Med Genet (2009) 1.32

Safety and efficacy of oral entecavir given for 28 days in patients with chronic hepatitis B virus infection. Hepatology (2001) 1.32

Accuracy of radiographer plain radiograph reporting in clinical practice: a meta-analysis. Clin Radiol (2005) 1.31

Work site group meetings and the effectiveness of a televised smoking cessation intervention. Am J Community Psychol (1987) 1.29

The dental caries experience of 11-year-old children in Great Britain. Surveys coordinated by the British Association for the Study of Community Dentistry in 2004 / 2005. Community Dent Health (2006) 1.28

Hepatitis E superinfection produces severe decompensation in patients with chronic liver disease. J Gastroenterol Hepatol (2004) 1.28

Germline and somatic NF1 gene mutation spectrum in NF1-associated malignant peripheral nerve sheath tumors (MPNSTs). Hum Mutat (2008) 1.25

Transjugular liver biopsy: a retrospective analysis of 601 cases. J Vasc Interv Radiol (2008) 1.25

Profile of diabetic foot complications and its associated complications--a multicentric study from India. J Assoc Physicians India (2005) 1.22

Predictors of mortality in hepatic encephalopathy in acute and chronic liver disease: a preliminary observation. J Clin Gastroenterol (2007) 1.21

Management of the patient and family with neurofibromatosis 2: a consensus conference statement. Br J Neurosurg (2005) 1.21

Distribution of the different genotypes of HCV among patients attending a tertiary care hospital in south India. J Clin Virol (2003) 1.21

The use of flanking markers in prediction for Duchenne muscular dystrophy. Arch Dis Child (1986) 1.19

Semisynthesis and biological activity of porcine [LeuB24]insulin and [LeuB25]insulin. Proc Natl Acad Sci U S A (1980) 1.16

Paget's disease of bone: experience from a centre in southern India. J Assoc Physicians India (2006) 1.14

Cervical cord compression from plexiform neurofibromas in neurofibromatosis 1. J Neurol Neurosurg Psychiatry (2007) 1.14

Fludarabine and cyclophosphamide based reduced intensity conditioning (RIC) regimens reduce rejection and improve outcome in Indian patients undergoing allogeneic stem cell transplantation for severe aplastic anemia. Bone Marrow Transplant (2007) 1.14

Tuberculosis among healthcare workers in a tertiary-care hospital in South India. J Hosp Infect (2004) 1.13

Seasonal erosion and restoration of Mars' northern polar dunes. Science (2011) 1.13

Development of a coagglutination (COA) technic to detect Candida antigenemia. I. COA versus Candida isolation. Am J Clin Pathol (1987) 1.13

Unusual presentation of a retroperitoneal lymphangioma. Indian J Pediatr (2006) 1.13

Infections among allogeneic bone marrow transplant recipients in India. Bone Marrow Transplant (2004) 1.12

An antipeptide antibody that specifically inhibits insulin receptor autophosphorylation and protein kinase activity. Proc Natl Acad Sci U S A (1985) 1.11

Idiopathic noncirrhotic intrahepatic portal hypertension is associated with sustained ADAMTS13 Deficiency. Dig Dis Sci (2011) 1.11

Outcome of varicella pneumonitis in immunocompetent adults requiring treatment in a high dependency unit. J Infect (2001) 1.10

Glucocorticoid-induced cell-size changes and nuclear fragility in rat thymocytes. Mol Cell Endocrinol (1981) 1.10

A technique of repair of stricture of the bile duct. Surg Gynecol Obstet (1969) 1.10

Amelioration of dextran sulfate colitis by butyrate: role of heat shock protein 70 and NF-kappaB. Am J Physiol Gastrointest Liver Physiol (2003) 1.09

The attitude of employers to people with inflammatory bowel disease. Soc Sci Med (1992) 1.09

The primary enzyme defect in hereditary coproporphyria. Lancet (1976) 1.08

Comparison of the antibody in lymphocyte supernatant (ALS) and ELISPOT assays for detection of mucosal immune responses to antigens of enterotoxigenic Escherichia coli in challenged and vaccinated volunteers. Vaccine (2005) 1.07

Observations of comet 19P/Borrelly by the miniature integrated camera and spectrometer aboard Deep Space 1. Science (2002) 1.07

Determination of the breakpoint and molecular diagnosis of a common alpha-thalassaemia-1 deletion in the Indian population. Br J Haematol (2003) 1.07

Comparison of molecular and conventional methods for typing of enteroviral isolates. J Clin Microbiol (2002) 1.07

Mortality from Crohn's disease in Leicestershire, 1972-1989: an epidemiological community based study. Gut (1992) 1.07

Epidemiological study of abdominal tuberculosis among Indian migrants and the indigenous population of Leicester, 1972-1989. Gut (1992) 1.06

Correlates of recent suicide attempts in a triethnic group of adolescents. J Nurs Scholarsh (2001) 1.05

Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions. Haemophilia (2005) 1.05

Symptom relief with amitriptyline in the irritable bowel syndrome. J Gastroenterol Hepatol (1998) 1.05

Modification of the catalytic subunit of bovine heart cAMP-dependent protein kinase with affinity labels related to peptide substrates. J Biol Chem (1982) 1.04

Sex and race differences in short-term prognosis after acute coronary heart disease events: the Atherosclerosis Risk In Communities (ARIC) study. Am Heart J (1999) 1.04

Should health care workers in the tropics be immunized against varicella? J Hosp Infect (2001) 1.04

Mortality in patients with ulcerative colitis in Leicestershire, 1972-1989. An epidemiological study. Dig Dis Sci (1993) 1.04

Healthcare planning in north-east India: a survey on diabetes awareness, risk factors and health attitudes in a rural community. J Assoc Physicians India (2009) 1.04

Desmopressin and bleeding time in patients with cirrhosis. Br Med J (Clin Res Ed) (1985) 1.03

Does Crohn's disease need differentiation from tuberculosis? J Gastroenterol Hepatol (1996) 1.02

Xanthelasma of esophagus and stomach. Indian J Gastroenterol (2000) 1.02

Dopamine and nicotinic receptor binding and the levels of dopamine and homovanillic acid in human brain related to tobacco use. Neuroscience (1998) 1.02

Analysis of beta globin mutations in the Indian population: presence of rare and novel mutations and region-wise heterogeneity. Clin Genet (2008) 1.02

The erythroid cells of anaemic Xenopus laevis. I. Studies on cellular morphology and protein and nucleic acid synthesis during differentiation. J Cell Sci (1975) 1.02

Eosinophilic gastroenteritis--an Indian experience. Indian J Gastroenterol (1998) 1.00

Images of asteroid 21 Lutetia: a remnant planetesimal from the early Solar System. Science (2011) 0.99

Physical fine mapping of genes underlying X-linked deafness and non fra (X)-X-linked mental retardation at Xq21. Hum Genet (1992) 0.98

Page kidney. Indian J Nephrol (2009) 0.98

Renal medullary carcinoma: sonographic, computed tomography, magnetic resonance and angiographic findings. Eur J Radiol (2000) 0.98