Haig H. Kazazian
Johns Hopkins University School of Medicine
319 Papers
4.2K Citations
Haig H. Kazazian is an academic researcher from Johns Hopkins University School of Medicine. The author has contributed to research in topics: Gene & Retrotransposon. The author has an hindex of 98, co-authored 315 publications. Previous affiliations of Haig H. Kazazian include University of Pennsylvania & Post Graduate Institute of Medical Education and Research.
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Papers
Prenatal diagnosis of sickle cell anemia--1988.
TL;DR: Preliminary diagnosis of sickle cell anemia by direct detection of the 8 mutation became available clinically in early 1982 and Conner et al. showed that sicklecell anemia could be diagnosed directly using specific oligonucleotide probes in 1983.
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Unequal synthesis of globin chains after extended incubation of rabbit reticulocytes with L-O-methylthreonine.
TL;DR: The results suggest that the capacity of reticulocytes to produce a specific globin chain after an in vitro incubation correlates positively with the number of ribosomes associated with the specific messenger RNA for that chain during the incubation.
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Molecular pathology of the β-globin gene cluster
TL;DR: The major lesson derived from studies of β-globin genes is the expectation that genetic heterogeneity both in normal and disease-producing genes will be extensive, which will have important consequences for prenatal diagnosis and potential gene therapy.
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Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q- syndrome and a ring chromosome 21
Matthew J. McGinniss,Carla Rosenberg,Gail Stetten,Albert Schinzel,Franz Binkert,Michael B. Petersen,William G. Kearns,Haig H. Kazazian,Peter L. Pearson,Stylianos E. Antonarakis +9 more
TL;DR: The results demonstrate the power of FISH in conjunction with DNA analysis for examination of chromosome rearrangements that may be misclassified by traditional cytogenetic studies alone.
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Prenatal diagnosis of hemoglobinopathies by DNA analysis.
TL;DR: The general nature of these polymorphisms, which are related to the β-globin gene and its variants only because of their proximity on chromosome 11, they are potentially useful in the prenatal diagnosis of any β-chain hemoglobinopathy.
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