Clinical and Biochemical Manifestations of Hyaluronidase Deficiency
Natowicz, Marvin R, Short, M. Priscilla, Wang, Yu, Dickersin, G. Richard, Gebhardt, Mark C, Rosenthal, Daniel I, Sims, Katherine B, Rosenberg, Andrew E
Published in The New England journal of medicine (03.10.1996)
Published in The New England journal of medicine (03.10.1996)
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Journal Article
Reconsidering the Family History in Primary Care
Rich, Eugene C., Burke, Wylie, Heaton, Caryl J., Haga, Susanne, Pinsky, Linda, Short, M. Priscilla, Acheson, Louise
Published in Journal of general internal medicine : JGIM (01.03.2004)
Published in Journal of general internal medicine : JGIM (01.03.2004)
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Journal Article
Tuberous sclerosis-associated renal cell carcinoma. Clinical, pathological, and genetic features
Bjornsson, J, Short, MP, Kwiatkowski, DJ, Henske, EP
Published in The American journal of pathology (01.10.1996)
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Published in The American journal of pathology (01.10.1996)
Journal Article
Molecular Analysis of the NF2 Tumor-Suppressor Gene in Schwannomatosis
Jacoby, Lee B., Jones, Deborah, Davis, Kevin, Kronn, David, Short, M. Priscilla, Gusella, James, MacCollin, Mia
Published in American journal of human genetics (01.12.1997)
Published in American journal of human genetics (01.12.1997)
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Journal Article
Quality of Life Assessment in Adults with Type 1 Gaucher Disease
Bruce J. Masek, Katherine B. Sims, Catherine M. Bove, Mark S. Korson, Priscilla Short, Norman, Dennis K.
Published in Quality of life research (01.05.1999)
Published in Quality of life research (01.05.1999)
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Journal Article
The physician's role in discussing organ donation with families
Williams, Michael A, Lipsett, Pamela A, Rushton, Cynda H, Grochowski, Eugene C, Berkowitz, Ivor D, Mann, Stephen L, Shatzer, John H, Short, M Priscilla, Genel, Myron
Published in Critical care medicine (01.05.2003)
Published in Critical care medicine (01.05.2003)
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Journal Article
An experimental model of retrovirus gene therapy for malignant brain tumors
Takamiya, Y, Short, M P, Moolten, F L, Fleet, C, Mineta, T, Breakefield, X O, Martuza, R L
Published in Journal of neurosurgery (01.07.1993)
Published in Journal of neurosurgery (01.07.1993)
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Journal Article
A clinical study of patients with multiple isolated neurofibromas
Blakley, Patricia, Louis, David N, Short, M Priscilla, MacCollin, Mia
Published in Journal of medical genetics (01.07.2001)
Published in Journal of medical genetics (01.07.2001)
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Journal Article
Effects of biologically delivered NGF, BDNF and bFGF on striatal excitotoxic lesions
Frim, D M, Uhler, T A, Short, M P, Ezzedine, Z D, Klagsbrun, M, Breakefield, X O, Isacson, O
Published in Neuroreport (01.04.1993)
Published in Neuroreport (01.04.1993)
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Journal Article
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease
Ruttledge, M H, Andermann, A A, Phelan, C M, Claudio, J O, Han, F Y, Chretien, N, Rangaratnam, S, MacCollin, M, Short, P, Parry, D, Michels, V, Riccardi, V M, Weksberg, R, Kitamura, K, Bradburn, J M, Hall, B D, Propping, P, Rouleau, G A
Published in American journal of human genetics (01.08.1996)
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Published in American journal of human genetics (01.08.1996)
Journal Article
Do NF1 gene deletions result in a characteristic phenotype?
Tonsgard, J H, Yelavarthi, K K, Cushner, S, Short, M P, Lindgren, V
Published in American journal of medical genetics (28.11.1997)
Published in American journal of medical genetics (28.11.1997)
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Journal Article
A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor
Trofatter, J A, MacCollin, M M, Rutter, J L, Murrell, J R, Duyao, M P, Parry, D M, Eldridge, R, Kley, N, Menon, A G, Pulaski, K
Published in Cell (19.11.1993)
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Published in Cell (19.11.1993)
Journal Article
Exon scanning of the entire TSC2 gene for germline mutations in 40 unrelated patients with tuberous sclerosis
Beauchamp, Roberta L., Banwell, Ashleigh, McNamara, Patrick, Jacobsen, Matthew, Higgins, Erica, Northrup, Hope, Short, Priscilla, Sims, Katherine, Ozelius, Laurie, Ramesh, Vijaya
Published in Human mutation (1998)
Published in Human mutation (1998)
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Journal Article
A child with neurofibromatosis-1 and a lumber epidural arteriovenous malformation
Nadig, Malini, Munshi, Ilyas, M Priscilla Short, Tonsgard, James H
Published in Journal of child neurology (01.04.2000)
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Published in Journal of child neurology (01.04.2000)
Journal Article
Alternative Splicing of the Tuberous Sclerosis 2 ( TSC2) Gene in Human and Mouse Tissues
Xu, Lin, Sterner, Christopher, Maheshwar, Magitha M., Wilson, Peter J., Nellist, Mark, Short, Priscilla M., Haines, Jonathan L., Sampson, Julian R., Ramesh, Vijaya
Published in Genomics (San Diego, Calif.) (10.06.1995)
Published in Genomics (San Diego, Calif.) (10.06.1995)
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Journal Article
Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions
HENSKE, E. P, SCHEITHAUER, B. W, SHORT, M. P, WOLLMANN, R, NAHMIAS, J, HORNIGOLD, N, VAN SLEGTENHORST, M, WELSH, C. T, KWIATKOWSKI, D. J
Published in American journal of human genetics (01.08.1996)
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Published in American journal of human genetics (01.08.1996)
Journal Article