Thalassemia revisited

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Thalassemia revisited

Abstract

Citations

Heterocellular hereditary persistence of fetal hemoglobin (HPFH). Molecular mechanisms of abnormal gamma-gene expression in association with beta thalassemia and linkage relationship with the beta-globin gene cluster

Basic defect in the expression of adenosine deaminase in ADA-SCID disease. II. Deficiency of ADA-CRM detected in heterozygote human-Chinese hamster cell hybrids

Beta-thalassemia problems in the Turkish population in the F.R.G

Scope of DNA cloning and chemical methods in development of chemotherapeutic agents

Oxidant, antioxidant status and metabolic data in patients with beta-thalassemia

First-trimester fetal diagnosis for haemoglobinopathies: three cases

Structure and function of the encapsidation signal of hepadnaviridae

Hepatitis B virus infection in microcarrier-attached immortalized human hepatocytes cultured in molecularporous membrane bags: a model for long-term episomal replication of HBV

5-azacytidine selectively increases gamma-globin synthesis in a patient with beta+ thalassemia

Molecular heterogeneity of inherited antithrombin III deficiency

Prenatal diagnosis of beta-thalassemia. Detection of a single nucleotide mutation in DNA

Hypoxanthine-guanine phosphoribosyltransferase deficiency. The molecular basis of the clinical syndromes

Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia

"Silent" nucleotide substitution in a beta+-thalassemia globin gene activates splice site in coding sequence RNA

A mutation in the beta-globin gene detected in the progeny of a female mouse treated with ethylnitrosourea

A developmentally stable chromatin structure in the human beta-globin gene cluster

Multiple arrangements of the human embryonic zeta globin genes

A beta-thalassemia lesion abolishes the same Mst II site as the sickle mutation

A molecular clock based on the expansion of gene families

Intestinal iron absorption studies in mouse models of iron-overload

Enhancer sequences and the regulation of gene transcription

A speculative model for the Rh blood groups

Evidence linking familial thrombosis with a defective antithrombin III gene in two British kindreds

Hemolytic disease of the newborn caused by a new deletion of the entire beta-globin cluster

Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia

Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta

Polymorphism of the human complement C4 and steroid 21-hydroxylase genes. Restriction fragment length polymorphisms revealing structural deletions, homoduplications, and size variants.

Differing erythrocyte membrane skeletal protein defects in alpha and beta thalassemia

Effect of excess alpha-hemoglobin chains on cellular and membrane oxidation in model beta-thalassemic erythrocytes

Molecular genetics of disorders of calcium homeostasis

Heritable genetic variation via mutation-selection balance: Lerch's zeta meets the abdominal bristle

Some clinical implications of recombinant DNA technology with emphasis on prenatal diagnosis of hemoglobinopathies

H2O2 injury in beta thalassemic erythrocytes: protective role of catalase and the prooxidant effects of GSH

Thalassemia diagnosed through facial distortion

DNA technology

One base substitution in IVS-2 causes a beta +-thalassemia phenotype in a Chinese patient

Respiratory Burst Enzymes, Pro-Oxidants and Antioxidants Status in Bangladeshi Population with β-Thalassemia Major

Spectroscopical and mechanical characterization of normal and thalassemic red blood cells by Raman Tweezers

Interaction between HBS-beta-o-thalassemia and alpha-thalassemia

Alternate organization of alpha G-Philadelphia globin genes among U.S. black and Italian Caucasian heterozygotes

Generation of a monoclonal antibody specific for Hb G-Philadelphia [alpha 2(68)(E17)Asn----Lys beta 2] and development of an immunoassay

Restriction enzyme evidence for Alu sequence-mediated dispersion of microinjected genes in transgenic mice

Thalassaemia genes in Peninsular Arabs

Hereditary persistence of fetal haemoglobin (HPFH) in conjunction with a chromosomal translocation involving the haemoglobin beta locus

Molecular heterogeneity of beta thalassaemia in the Italian population

Prenatal diagnosis of hemoglobinopathies by DNA analysis.

Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes

The deletion in a type of delta 0-beta 0-thalassaemia begins in an inverted AluI repeat

Beta-globin gene inactivation by DNA translocation in gamma beta-thalassaemia

Regulated expression of the human beta-globin gene family in murine erythroleukaemia cells

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