Murine Model of Niemann-Pick C Disease: Mutation in a Cholesterol Homeostasis Gene
Loftus, Stacie K., Morris, Jill A., Carstea, Eugene D., Gu, Jessie Z., Cummings, Christiano, Brown, Anthony, Ellison, Jane, Ohno, Kousaku, Rosenfeld, Melissa A., Tagle, Danilo A., Pentchev, Peter G., Pavan, William J.
Published in Science (American Association for the Advancement of Science) (11.07.1997)
Published in Science (American Association for the Advancement of Science) (11.07.1997)
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Journal Article
Rescue of neurodegeneration in Niemann–Pick C mice by a prion-promoter-driven Npc1 cDNA transgene
Loftus, Stacie K., Erickson, Robert P., Walkley, Steven U., Bryant, Mark A., Incao, Arturo, Heidenreich, Randall A., Pavan, William J.
Published in Human molecular genetics (15.11.2002)
Published in Human molecular genetics (15.11.2002)
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Journal Article
Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome
The Treacher Collins Syndrome Collaborative Group, Dixon, Jill, Edwards, Sara J, Gladwin, Amanda J, Dixon, Michael J, Loftus, Stacie K, Bonner, Cynthia A, Koprivnikar, Kathryn, Wasmuth, John J
Published in Nature genetics (01.02.1996)
Published in Nature genetics (01.02.1996)
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Journal Article
Informatic Selection of a Neural Crest-Melanocyte cDNA Set for Microarray Analysis
Loftus, S. K., Chen, Y., Gooden, G., Ryan, J. F., Birznieks, G., Hilliard, M., Baxevanis, A. D., Bittner, M., Meltzer, P., Trent, J., Pavan, W.
Published in Proceedings of the National Academy of Sciences - PNAS (03.08.1999)
Published in Proceedings of the National Academy of Sciences - PNAS (03.08.1999)
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Journal Article
Generation of RCAS vectors useful for functional genomic analyses
LOFTUS, Stacie K, LARSON, Denise M, WATKINS-CHOW, Dawn, CHURCH, Dcanna M, PAVAN, William J
Published in DNA research (31.10.2001)
Published in DNA research (31.10.2001)
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Journal Article
Treacher Collins Syndrome may Result from Insertions, Deletions or Splicing Mutations, Which Introduce a Termination Codon into the Gene
Gladwin, Amanda J., Dixon, Jill, Loftus, Stacie K., Edwards, Sara, Wasmuth, John J., Hennekam, Raoul C. M., Dixon, Michael J.
Published in Human molecular genetics (01.10.1996)
Published in Human molecular genetics (01.10.1996)
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Journal Article
Mutation of Melanosome Protein RAB38 in chocolate Mice
Loftus, Stacie K., Larson, Denise M., Baxter, Laura L., Antonellis, Anthony, Chen, Yidong, Wu, Xufeng, Jiang, Yuan, Bittner, Michael, Hammer, John A., Pavan, William J.
Published in Proceedings of the National Academy of Sciences - PNAS (02.04.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (02.04.2002)
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Journal Article
A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation
Rao, Cherie, Foernzler, Dorothee, Loftus, Stacie K, Liu, Shanming, McPherson, John D, Jungers, Katherine A, Apte, Suneel S, Pavan, William J, Beier, David R
Published in Development (Cambridge) (01.10.2003)
Published in Development (Cambridge) (01.10.2003)
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Journal Article
Cloning of the human heparan sulfate- N-deacetylase/ N-sulfotransferase gene from the treacher Collins syndrome candidate region at 5q32–q33.1
Dixon, Jill, Loftus, Stacie K., Gladwin, Amanda J., Scambler, Peter J., Wasmuth, John J., Dixon, Michael J.
Published in Genomics (San Diego, Calif.) (20.03.1995)
Published in Genomics (San Diego, Calif.) (20.03.1995)
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Journal Article
A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32
Dixon, J, Gladwin, A J, Loftus, S K, Riley, J H, Perveen, R, Wasmuth, J J, Anand, R, Dixon, M J
Published in American journal of human genetics (01.08.1994)
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Published in American journal of human genetics (01.08.1994)
Journal Article
Genes encoding adrenergic receptors are not clustered on the long arm of human chromosome 5
Loftus, S K, Shiang, R, Warrington, J A, Bengtsson, U, McPherson, J D, Wasmuth, J J
Published in Cytogenetics and cell genetics (01.01.1994)
Published in Cytogenetics and cell genetics (01.01.1994)
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Journal Article
Substantial Narrowing of the Niemann-Pick C Candidate Interval by Yeast Artificial Chromosome Complementation
Gu, Jessie Z., Carstea, Eugene D., Cummings, Christiano, Morris, Jill A., Loftus, Stacie K., Zhang, Dana, Coleman, Katherine G., Cooney, Adele M., Comly, Marcy E., Fandino, Laura, Roff, Calvin, Tagle, Danilo A., Pavan, William J., Pentchev, Peter G., Rosenfeld, Melissa A.
Published in Proceedings of the National Academy of Sciences - PNAS (08.07.1997)
Published in Proceedings of the National Academy of Sciences - PNAS (08.07.1997)
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Journal Article
Transcriptional map of the Treacher Collins candidate gene region
Loftus, S K, Dixon, J, Koprivnikar, K, Dixon, M J, Wasmuth, J J
Published in Genome research (01.01.1996)
Published in Genome research (01.01.1996)
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Journal Article
Genomic Organization of the Human Heparan Sulfate-N-Deacetylase/N-Sulfotransferase Gene: Exclusion from a Causative Role in the Pathogenesis of Treacher Collins Syndrome
Gladwin, Amanda J., Dixon, Jill, Loftus, Stacie K., Wasmuth, John J., Dixon, Michael J.
Published in Genomics (San Diego, Calif.) (15.03.1996)
Published in Genomics (San Diego, Calif.) (15.03.1996)
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Journal Article
Acinar cell apoptosis in Serpini2-deficient mice models pancreatic insufficiency
Loftus, Stacie K, Cannons, Jennifer L, Incao, Arturo, Pak, Evgenia, Chen, Amy, Zerfas, Patricia M, Bryant, Mark A, Biesecker, Leslie G, Schwartzberg, Pamela L, Pavan, William J
Published in PLoS genetics (01.09.2005)
Published in PLoS genetics (01.09.2005)
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Journal Article
Genomic organization of the human heparan sulfate-N-deactylase/N-sulfotransferase gene : Exclusion from a causative role in the pathogenesis of Treacher Collins syndrome
GLADWIN, A. J, DIXON, J, LOFTUS, S. K, WASMUTH, J. J, DIXON, M. J
Published in Genomics (San Diego, Calif.) (1996)
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Published in Genomics (San Diego, Calif.) (1996)
Journal Article
Complementation of melanocyte development in SOX10 mutant neural crest using lineage‐directed gene transfer
Hou, Ling, Loftus, Stacie K., Incao, Arturo, Chen, Amy, Pavan, William J.
Published in Developmental dynamics (01.01.2004)
Published in Developmental dynamics (01.01.2004)
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Journal Article