Deborah G. Phillips
Johns Hopkins University School of Medicine
8 Papers
120 Citations
Deborah G. Phillips is an academic researcher from Johns Hopkins University School of Medicine. The author has contributed to research in topics: Gene & Exon. The author has an hindex of 5, co-authored 8 publications.
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Papers
Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.
Haig H. Kazazian,Corinne Wong,Hagop Youssoufian,Hagop Youssoufian,Alan F. Scott,Deborah G. Phillips,Stylianos E. Antonarakis +6 more
TL;DR: The results indicate that certain L1 sequences in man can be dispersed, presumably by an RNA intermediate, and cause disease by insertional mutation.
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Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots
Hagop Youssoufian,Haig H. Kazazian,Deborah G. Phillips,Sophia Aronis,George Tsiftis,Valerie A. Brown,Stylianos E. Antonarakis +6 more
TL;DR: Two different point mutations in exon 18 and exon 22 of haemophilia A that have recurred independently in unrelated families are identified, and these observations strongly support the view that CpG dinucleotides are mutation hotspots.
286
Characterization of five partial deletions of the factor VIII gene
Hagop Youssoufian,Stylianos E. Antonarakis,Sophia Aronis,George Tsiftis,Deborah G. Phillips,Haig H. Kazazian +5 more
TL;DR: It is demonstrated that de novo deletions of X-linked genes can occur in either male or female gametes.
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Restriction endonuclease mapping of six novel deletions of the factor VIII gene in hemophilia A.
Hagop Youssoufian,Carol K. Kasper,Deborah G. Phillips,Haig H. Kazazian,Stylianos E. Antonarakis +4 more
TL;DR: Using cloned cDNA, genomic and synthetic oligonucleotide factor VIII probes, six novel partial gene deletions in patients with severe hemophilia A are identified and the parental origin of several of the deletions was determined.
19
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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