Published in Hum Immunol on August 01, 1995
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Regression mapping of association between the human leukocyte antigen region and Graves disease. Am J Hum Genet (2004) 1.47
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Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28. Nat Genet (2000) 5.65
Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet (1996) 4.62
Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. N Engl J Med (1993) 4.36
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat Genet (2001) 4.15
Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in Sardinia. N Engl J Med (1980) 3.72
Prenatal diagnosis of beta-thalassemia. Detection of a single nucleotide mutation in DNA. N Engl J Med (1983) 2.78
A correlation between the relative predisposition of MHC class II alleles to type 1 diabetes and the structure of their proteins. Hum Mol Genet (2001) 2.43
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Hepatitis C virus in multiple episodes of acute hepatitis in polytransfused thalassaemic children. Lancet (1994) 2.01
Chronic tumor necrosis factor alters T cell responses by attenuating T cell receptor signaling. J Exp Med (1997) 1.92
An atlas-based method to compensate for brain shift: preliminary results. Med Image Anal (2007) 1.91
Effect of phosphorus availability on basal root shallowness in common bean. Plant Soil (2001) 1.89
Early effects of gliadin on enterocyte intracellular signalling involved in intestinal barrier function. Gut (2003) 1.84
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Healing of broken human chromosomes by the addition of telomeric repeats. Am J Hum Genet (1994) 1.69
The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe. Hum Mol Genet (1998) 1.67
Heterozygous beta-thalassemia: relationship between the hematological phenotype and the type of beta-thalassemia mutation. Am J Hematol (1992) 1.62
The HLA-DPB1--associated component of the IDDM1 and its relationship to the major loci HLA-DQB1, -DQA1, and -DRB1. Diabetes (2001) 1.58
Genome-wide association study of obsessive-compulsive disorder. Mol Psychiatry (2012) 1.57
In siblings of celiac children, rectal gluten challenge reveals gluten sensitization not restricted to celiac HLA. Gastroenterology (1996) 1.52
Combinations of specific DRB1, DQA1, DQB1 haplotypes are associated with insulin-dependent diabetes mellitus in Sardinia. Hum Immunol (1993) 1.52
Dystrophin analysis using a panel of anti-dystrophin antibodies in Duchenne and Becker muscular dystrophy. J Neurol Neurosurg Psychiatry (1993) 1.49
Interaction between the glucose-6-phosphate dehydrogenase deficiency and thalassaemia genes at phenotype level. Br J Haematol (1980) 1.49
Prevention of homozygous beta-thalassemia by carrier screening and prenatal diagnosis in Sardinia. Am J Hum Genet (1981) 1.47
Hyperbilirubinemia, glucose-6-phosphate-dehydrogenase deficiency and Gilbert's syndrome. Eur J Pediatr (1999) 1.45
Initiation codon mutation as a cause of alpha thalassemia. J Biol Chem (1984) 1.45
The distribution of HLA class II haplotypes reveals that the Sardinian population is genetically differentiated from the other Caucasian populations. Tissue Antigens (2000) 1.44
Transcatheter closure of patent foramen ovale in patients with cryptogenic stroke. Ital Heart J (2001) 1.43
A specific cystic fibrosis mutation (T3381) associated with the phenotype of isolated hypotonic dehydration. J Pediatr (1995) 1.43
Relationship between genotype and phenotype. Thalassemia intermedia. Ann N Y Acad Sci (1998) 1.34
Identification of immunodominant T cell epitopes of human glutamic acid decarboxylase 65 by using HLA-DR(alpha1*0101,beta1*0401) transgenic mice. Proc Natl Acad Sci U S A (1997) 1.34
Transcatheter closure of persistent ductus arteriosus with the Amplatzer duct occluder in very young symptomatic children. Heart (2004) 1.31
hMAF, a small human transcription factor that heterodimerizes specifically with Nrf1 and Nrf2. J Biol Chem (1997) 1.31
A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients. Hum Genet (1998) 1.30
T cell epitopes of insulin defined in HLA-DR4 transgenic mice are derived from preproinsulin and proinsulin. Proc Natl Acad Sci U S A (1998) 1.28
Molecular characterization of wilson disease in the Sardinian population--evidence of a founder effect. Hum Mutat (1999) 1.27
Variation within the CLEC16A gene shows consistent disease association with both multiple sclerosis and type 1 diabetes in Sardinia. Genes Immun (2008) 1.27
Prevalence and clinical picture of celiac disease in italian down syndrome patients: a multicenter study. J Pediatr Gastroenterol Nutr (2001) 1.19
A gene dosage effect of the DQA1*0501/DQB1*0201 allelic combination influences the clinical heterogeneity of celiac disease. Hum Immunol (1994) 1.18
Gpc3 expression correlates with the phenotype of the Simpson-Golabi-Behmel syndrome. Dev Dyn (1998) 1.17
Thalassaemia types and their incidence in Sardinia. J Med Genet (1978) 1.16
The inter-regional distribution of HLA class II haplotypes indicates the suitability of the Sardinian population for case-control association studies in complex diseases. Hum Mol Genet (2000) 1.15
A new 2D-based method for myocardial velocity strain and strain rate quantification in a normal adult and paediatric population: assessment of reference values. Cardiovasc Ultrasound (2009) 1.15
Deferoxamine-induced growth retardation in patients with thalassemia major. J Pediatr (1988) 1.14
Molecular basis of hemoglobin-H disease in the Mediterranean population. Blood (1979) 1.14
Two cytochromes P450 are major hepatocellular autoantigens in autoimmune polyglandular syndrome type 1. Gastroenterology (1998) 1.14
Phenotypic effect of heterozygous alpha and beta 0-thalassemia interaction. Blood (1983) 1.14
T cell responses to a human cartilage autoantigen in the context of rheumatoid arthritis-associated and nonassociated HLA-DR4 alleles. Arthritis Rheum (1999) 1.11
Beta 0 thalassemia trait in Sardinia. Hemoglobin (1979) 1.09
Multiple mutations produce delta beta 0 thalassemia in Sardinia. Science (1984) 1.08
Age- and gender-specific awareness, treatment, and control of cardiovascular risk factors and subclinical vascular lesions in a founder population: the SardiNIA Study. Nutr Metab Cardiovasc Dis (2009) 1.08
Serum lipoproteins and cancer. Nutr Metab Cardiovasc Dis (2008) 1.08
Alpha-thalassemia carrier identification by DNA analysis in the screening for thalassemia. Am J Hematol (1998) 1.08
Immune reaction against the cytoskeleton in coeliac disease. Gut (2000) 1.07
Color Doppler ultrasound and prenatal diagnosis of cleft palate. J Clin Ultrasound (1995) 1.07
Molecular characterization of beta-thalassemia in the Sardinian population. Am J Hum Genet (1992) 1.06
Elevation of serum creatine kinase as the only manifestation of an intragenic deletion of the dystrophin gene in three unrelated families. Eur J Paediatr Neurol (1998) 1.06
The osmotic response of large unilamellar vesicles studied by quasielastic light scattering. Biochim Biophys Acta (1986) 1.06
The interaction of alpha thalassaemia with heterozygous beta thalassaemia. Br J Haematol (1982) 1.04
The prenatal diagnosis of thalassaemia. Br J Haematol (1986) 1.04
Soluble transferrin receptor as a potential determinant of iron loading in congenital anaemias due to ineffective erythropoiesis. Br J Haematol (1999) 1.04
Relationship between transfusion regimen and suppression of erythropoiesis in beta-thalassaemia major. Br J Haematol (1995) 1.04
Further delineation of the molecular pathology of Wilson disease in the Mediterranean population. Hum Mutat (1998) 1.03
Molecular comparison of delta beta-thalassemia and hereditary persistence of fetal hemoglobin DNAs: evidence of a regulatory area? Proc Natl Acad Sci U S A (1982) 1.02
Auditory involvement in thalassemia major. Acta Haematol (1979) 1.02
Hemoglobin A2 in iron deficient beta-thalassemia heterozygotes. Hemoglobin (1981) 1.02
Beta-thalassemia mutations in the Portuguese population. Hum Genet (1988) 1.02
Modified technique of stent fenestration of the atrial septum. Heart (2003) 1.01
Cholelithiasis and Gilbert's syndrome in homozygous beta-thalassaemia. Br J Haematol (2001) 1.00