Switch from monoallelic to biallelic human IGF2 promoter methylation during aging and carcinogenesis.

Jean‐Pierre J. Issa, Paula M. Vertino, C D Boehm, +2

Proceedings of the National Academy of Sciences

Transcriptional RegulationSystems BiologyIgf2 GeneEpigenetic ChangeGenetics +10

Molecular basis and prenatal diagnosis of beta-thalassemia

HH Jr Kazazian, C D Boehm

Blood

Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both.

Stylianos E. Antonarakis, C D Boehm, G. R. Serjeant, +3

Proceedings of the National Academy of Sciences

Recurrent MutationGeneticsHuman PolymorphismMolecular GeneticsMolecular Ecology +14

Molecular characterization of seven beta-thalassemia mutations in Asian Indians.

H H Kazazian, Stuart H. Orkin, Stylianos E. Antonarakis, +4

The EMBO Journal

Genetic DisorderGeneticsHematologyGenetic VariationBeta-thalassemia Mutations +1

Neurobehavioral effects of the fragile X premutation in adult women: a controlled study.

Allan L. Reiss, Lisa S. Freund, Michael T. Abrams, +2

PubMed

Evidence for multiple origins of the beta E-globin gene in Southeast Asia.

Stylianos E. Antonarakis, SH Orkin, H H Kazazian, +7

Proceedings of the National Academy of Sciences

Recurrent MutationGeneticsMolecular GeneticsGenetic AnalysisGenotype-phenotype Association +16

On the origin and spread of beta-thalassemia: recurrent observation of four mutations in different ethnic groups.

Stylianos E. Antonarakis, Sabra C. Goff, Stuart H. Orkin, +2

Proceedings of the National Academy of Sciences

Mutant Gene MigrationGeneticsBeta-thalassemia GenesHuman PolymorphismGenetic Epidemiology +15

Cystic fibrosis carrier population screening in the primary care setting.

Starlene Loader, Peter Caldwell, A Kozyra, +4

PubMed

Prenatal diagnosis of sickle cell anemia by restriction and endonuclease analysis: HindIII polymorphisms in gamma-globin genes extend test applicability.

John A. Phillips, Susan R. Panny, H H Kazazian, +3

Proceedings of the National Academy of Sciences

ImmunohematologyGenetics13-Kb HpaHuman PolymorphismPathology +14

242 Breakpoints in the 200-kb deletion-prone P20 region of the DMD gene are widely spread

Lau A.J. Blonden, P.M. Grootscholten, Johan T. den Dunnen, +37

Genomics

Genome InstabilityDmd GeneNatural SciencesGeneticsGenomic Mechanism +7