H
Hope H. Punnett
Researcher at Temple University
Publications - 55
Citations - 1519
Hope H. Punnett is an academic researcher from Temple University. The author has contributed to research in topics: Trisomy & Aneuploidy. The author has an hindex of 24, co-authored 55 publications receiving 1484 citations. Previous affiliations of Hope H. Punnett include Mayo Clinic & Drexel University.
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Journal ArticleDOI
The Association of the DiGeorge Anomalad With Partial Monosomy of Chromosome 22
Richard I. Kelley,Richard I. Kelley,Elaine H. Zackai,Elaine H. Zackai,Beverly S. Emanuel,Beverly S. Emanuel,Mildred L. Kistenmacher,Mildred L. Kistenmacher,Frank Greenberg,Frank Greenberg,Hope H. Punnett,Hope H. Punnett +11 more
TL;DR: Patients and a review of the literature make a strong argument for at least some cases of the DiGeorge anomalad arising from a deletion of the pericentromeric region of chromosome 22.
Journal ArticleDOI
Possible graft-versus-host reaction after intrauterine transfusion for Rh erythroblastosis fetalis.
TL;DR: Recommendations that blood intended for transfusion to the fetus be first rendered free of viable lymphocytes are supported.
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Lymphocytes in Congenital Absence of the Thymus
TL;DR: Lymphocytes of presumably extrathymic origin were obtained from an immunologically deficient child in whom there was complete failure of development of the thymus, and responsiveness was not induced by incubation with thymic or transfer factors.
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Reproductive risks for carriers of complex chromosome rearrangements: analysis of 25 families.
Jerome L. Gorski,Jerome L. Gorski,Mildred L. Kistenmacher,Hope H. Punnett,Elaine H. Zackai,Beverly S. Emanuel,John M. Optiz,James F. Reynolds +7 more
TL;DR: Pregnancy outcome, the frequency and type of chromosomal imbalance in the offspring, and the localization and distribution of chromosome breakpoints were analyzed in 25 CCR families ascertained by the birth of a malformed child or repeated spontaneous abortions.
Journal ArticleDOI
Identification of Microdeletions Spanning the Diamond-Blackfan Anemia Locus on 19q13 and Evidence for Genetic Heterogeneity
Peter Gustavsson,Emanuela Garelli,Natalia Draptchinskaia,Sarah E. Ball,Thiébaut-Noël Willig,D. Tentler,Irma Dianzani,Hope H. Punnett,Frank E. Shafer,Holger Cario,Ugo Ramenghi,Anders Glomstein,Rudolf A. Pfeiffer,Andy Goringe,Nancy F. Olivieri,Elizabeth Smibert,Gil Tchernia,Göran Elinder,Niklas Dahl +18 more
TL;DR: The results indicate that a proportion of sporadic DBA cases are caused by deletions in the 19q13 region, and it is shown that a gene region on chromosome 19q segregates with the disease in the majority of familial cases.