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Deborah L. Eunpu
Researcher at Nemours Foundation
Publications - 6
Citations - 204
Deborah L. Eunpu is an academic researcher from Nemours Foundation. The author has contributed to research in topics: Trisomy & Germline mutation. The author has an hindex of 3, co-authored 6 publications receiving 192 citations. Previous affiliations of Deborah L. Eunpu include University of Pennsylvania.
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Journal ArticleDOI
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.
Ludwine Messiaen,S. Yao,Hilde Brems,Tom Callens,Achara Sathienkijkanchai,Ellen Denayer,Emily Spencer,Pamela Arn,Dusica Babovic-Vuksanovic,Carolyn Bay,Gary Bobele,Bruce H. Cohen,Luis F. Escobar,Deborah L. Eunpu,Theresa A. Grebe,Robert M. Greenstein,Rachel K. Hachen,Mira Irons,David Kronn,Edmond G. Lemire,Kathleen A. Leppig,Cynthia Lim,Marie T. McDonald,Vinodh Narayanan,Amy Pearn,Robert Pedersen,Berkley R. Powell,Lawrence R. Shapiro,David Skidmore,David Tegay,Heidi Thiese,Elaine H. Zackai,Raymon Vijzelaar,Koji Taniguchi,Koji Taniguchi,Toranoshin Ayada,Fuyuki Okamoto,Akihiko Yoshimura,Akihiko Yoshimura,Annabel H. A. Parret,Bruce R. Korf,Eric Legius +41 more
TL;DR: A high SPRED1 mutation detection rate was found in NF1 mutation-negative families with an autosomal dominant phenotype of CALMs with or without freckling and no other NF1 features, and NFLS was not associated with the peripheral and central nervous system tumors seen inNF1.
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Partial duplication 1q: report of four patients and review of the literature.
TL;DR: It is thought that the coexisting deletion present in each of these patients is responsible for most of the observed differences in clinical manifestations, which makes clinical recognition difficult and precludes making a long-term prognosis.
Journal Article
The role of cytologic NOR variants in the etiology of trisomy 21.
Nancy B. Spinner,Deborah L. Eunpu,R. D. Schmickel,Elaine H. Zackai,D. McEldrew,Greta R. Bunin,H E McDermid,Beverly S. Emanuel +7 more
TL;DR: It is found that there is no demonstrable risk for nondisjunction of chromosome 21 in individuals with silver-staining variants, and the reproducible scoring system for the analysis of silver-stained chromosomes was developed.
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Neural tube defects, diabetes, and serum α-fetoprotein screening
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Presented Abstracts from the Twenty-Fourth Annual Education Conference of the National Society of Genetic Counselors (Los Angeles, California, November 2005)
TL;DR: The abstracts have been arranged by the Abstract Committee into the following categories: Award Papers, Awards Papers, and Professional Issues.