R
R. E. Magenis
Researcher at Oregon Health & Science University
Publications - 10
Citations - 1014
R. E. Magenis is an academic researcher from Oregon Health & Science University. The author has contributed to research in topics: Angelman syndrome & Chromosome 15. The author has an hindex of 8, co-authored 10 publications receiving 998 citations.
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Journal ArticleDOI
Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion.
J. H. M. Knoll,J. H. M. Knoll,Robert D. Nicholls,Robert D. Nicholls,R. E. Magenis,John M. Graham,Marc Lalande,Samuel A. Latt,Samuel A. Latt,John M. Opitz,James F. Reynolds +10 more
TL;DR: Maternal inheritance of the deleted chromosome 15 was demonstrated in the AS patients by restriction fragment length polymorphisms (RFLPs) and the molecular deletions between AS and those previously reported for PWS did not appear to differ.
Journal ArticleDOI
Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences.
R. E. Magenis,S. Toth-Fejel,L. Allen,Mary Helen Black,Michael G. Brown,Sarojini S. Budden,R. Cohen,J. M. Friedman,Dagmar K. Kalousek,Jonathan Zonana,D. Lacy,Stephen H. LaFranchi,M. Lahr,J. Macfarlane,C. P. S. Williams +14 more
TL;DR: The specific bands involved and the sizes of the deletions were compared in seven patients with Prader-Willi syndrome and 10 patients with Angelman syndrome using high-resolution G-, Q-, and fluorescent R-banding techniques to address the distinctness of the syndromes.
Journal Article
Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.
Joan H.M. Knoll,Robert D. Nicholls,R. E. Magenis,Karen A. Glatt,John M. Graham,Lee M. Kaplan,Marc Lalande +6 more
TL;DR: Analysis of DNA of 19 AS patients with the following chromosome 15q11q13--specific DNA markers found the deleted chromosome 15 was observed to be of maternal origin, in contrast to the paternal origin of the deletions in PWS.
Journal ArticleDOI
Tandem duplication of proximal 22q: A cause of cat‐eye syndrome
TL;DR: A boy with bilateral colobomas, preauricular pits, and developmental delay had a 46,XY,22q+ karyotype and his manifestations are otherwise consistent with those of the cat-eye syndrome.
Journal ArticleDOI
Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.
De-Ann M. Pillers,Richard G. Weleber,Berkley R. Powell,C. E. Hanna,R. E. Magenis,Neil R. M. Buist +5 more
TL;DR: A 6-year-old boy who, in addition to the CGKD phenotype described above, had ocular hypopigmentation consistent with Forsius-Eriksson ocularAlbinism, also known as type 2 ocular albinism or Aland Island eye disease is reported on.