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Emilia Vitale
Researcher at Icahn School of Medicine at Mount Sinai
Publications - 24
Citations - 1998
Emilia Vitale is an academic researcher from Icahn School of Medicine at Mount Sinai. The author has contributed to research in topics: Gene & Regulation of gene expression. The author has an hindex of 15, co-authored 23 publications receiving 1928 citations. Previous affiliations of Emilia Vitale include University of Texas at Austin & University of York.
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Journal ArticleDOI
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes
Brendan Lee,Maurice Godfrey,Emilia Vitale,Hisae Hori,Marie Geneviève Mattei,Mansoor Sarfarazi,Petros Tsipouras,Francesco Ramirez,David W. Hollister +8 more
TL;DR: The cosegregation of two related genes with two related syndromes implies that fibrillin mutations are likely to be responsible for different MFS phenotypes.
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Mapping, Cloning and Genetic Characterization of the Region Containing the Wilson Disease Gene
Konstantin Petrukhin,Stuart G. Fischer,Mario Pirastu,Rudolph E. Tanzi,Igor P. Chernov,Marcella Devoto,Linda M. Brzustowicz,Eftihia Cayanis,Emilia Vitale,James J. Russo +9 more
TL;DR: This work developed yeast artificial chromosome and cosmid contigs, and microsatellite markers which span the WD gene region, and predicts that approximately half of all WD mutations will be rare in the American and Russian populations.
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Genetic Linkage of the Marfan Syndrome, Ectopia Lentis, and Congenital Contractural Arachnodactyly to the Fibrillin Genes on Chromosomes 15 and 5
Petros Tsipouras,Del Mastro R,Mansoor Sarfarazi,Brendan Lee,Emilia Vitale,A H Child,Maurice Godfrey,Richard B. Devereux,Hewett D,Beat Steinmann +9 more
TL;DR: In this article, genetic linkage was established between the Marfan syndrome and only the fibrillin gene on chromosome 15, with a maximum lod score of 25.6 (odds for linkage, 1025.6:1).
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Repating developmental expression of G-Hox 7, a novel homeobox-containing gene in the chicken
TL;DR: The isolation and characterization of a new chicken homeobox-containing gene, G-Hox 7, which is related to Drosophila msh, suggests that the gene may play an essential role at multiple sites during the initiation of new developmental pathways.
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Characterization of a type II collagen gene (COL2A1) mutation identified in cultured chondrocytes from human hypochondrogenesis.
William A. Horton,Mirta A. Machado,Jeffrey Ellard,Dianna Campbell,James Bartley,Francesco Ramirez,Emilia Vitale,Brendan Lee +7 more
TL;DR: Morphologic assessment of cartilage-like structures produced in culture and electrophoretic analysis of collagens synthesized by the cultured chondrocytes suggested that the glycine substitution interferes with conversion of type II procollagen to collagen, impairs intracellular transport and secretion of the molecule, and disrupts collagen fibril assembly.