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The β-Thalassemias

Identification and characterization of a spinal muscular atrophy-determining gene

Genetic Analysis of Innate Immunity

The influence of uridine diphosphate glucuronosyl transferase 1A promoter polymorphisms, β^S‐globin gene haplotype, co‐inherited α‐thalassemia trait and Hb F on steady‐state serum bilirubin levels in sickle cell anemia

1 The population genetics of the haemoglobinopathies

6 β-Thalassaemia

The muscular dystrophies

Phenotype—genotype relationships in monogenic disease: lessons from the thalassaemias

Gender and haplotype effects upon hematological manifestations of adult sickle cell anemia

Regression of extramedullary haemopoiesis and augmentation of fetal haemoglobin concentration during hydroxyurea therapy in β thalassaemia

8 The population genetics of the haemoglobinopathies

Gene Defects in β‐Thalassemia and Their Prenatal Diagnosis

Sickle-cell disease

Modulation of the Phenotypic Diversity of Sickle Cell Anemia

A Mild Thalassemia Major Resulting from a Compound Heterozygosity for the IVS-11-1 (G→A) Mutation and the Rare T→C Mutation at the Polyadenylation Site

7 Increased HbF in adult life

Interpreting neural networks for biological sequences by learning stochastic masks

A rare polyadenylation signal mutation of the FOXP3 gene (AAUAAA→AAUGAA) leads to the IPEX syndrome

Phase 2 trial of oral vorinostat (suberoylanilide hydroxamic acid, SAHA) for refractory cutaneous T-cell lymphoma (CTCL)

Molecular characterization of beta-thalassemia intermedia in patients of Italian descent and identification of three novel beta-thalassemia mutations

A Common Human β Globin Splicing Mutation Modeled in Mice

Lethal thalassemia after insertional disruption of the mouse major adult beta-globin gene.

A mouse model for beta 0-thalassemia.

Observations on the levels of Hb A2 in patients with different beta- thalassemia mutations and a delta chain variant

Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States

Clinical and genetic heterogeneity in black patients with homozygous beta-thalassemia from the southeastern United States

Sequence variations in the 5' flanking and IVS-II regions of the G gamma- and A gamma-globin genes of beta S chromosomes with five different haplotypes

Sequence variations in the 5' flanking and IVS-II regions of the G gamma- and A gamma-globin genes of beta S chromosomes with five different haplotypes

Sequence variations in the 5' hypersensitive site-2 of the locus control region of beta S chromosomes are associated with different levels of fetal globin in hemoglobin S homozygotes