Concordant prune belly syndrome in monozygotic twins
Balaji, K.C, Patil, Ashwinikumar, Townes, Phillip L, Primack, William, Skare, James, Hopkins, Timothy
Published in Urology (Ridgewood, N.J.) (01.06.2000)
Published in Urology (Ridgewood, N.J.) (01.06.2000)
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Journal Article
Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium
Farrer, L A, Grundfast, K M, Amos, J, Arnos, K S, Asher, Jr, J H, Beighton, P, Diehl, S R, Fex, J, Foy, C, Friedman, T B
Published in American journal of human genetics (01.05.1992)
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Published in American journal of human genetics (01.05.1992)
Journal Article
A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing
Connors, Lawreen Heller, Ericsson, Thomas, Skare, James, Jones, Lee Anna, Lewis, W.David, Skinner, Martha
Published in Biochimica et biophysica acta (30.09.1998)
Published in Biochimica et biophysica acta (30.09.1998)
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A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient
Connors, L H, Théberge, R, Skare, J, Costello, C E, Falk, R H, Skinner, M
Published in Amyloid (1999)
Published in Amyloid (1999)
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Journal Article
Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy
Skare, J, Yazici, H, Erken, E, Dede, H, Cohen, A, Milunsky, A, Skinner, M
Published in Human genetics (01.11.1990)
Published in Human genetics (01.11.1990)
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Journal Article
Two transthyretin mutations (glu42gly, his90asn) in an Italian family with amyloidosis
Skare, J, Jones, L A, Myles, N, Kane, K, Milunsky, A, Cohen, A, Skinner, M
Published in Clinical genetics (01.06.1994)
Published in Clinical genetics (01.06.1994)
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Journal Article
Detection of X-linked lymphoproliferative disease using molecular and immunovirologic markers
Purtilo, David T., Grierson, Helen L., Ochs, Hans, Skare, James
Published in The American journal of medicine (01.10.1989)
Published in The American journal of medicine (01.10.1989)
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Journal Article
Mapping the X-Linked Lymphoproliferative Syndrome
Skare, James C., Milunsky, Aubrey, Byron, Kevin S., Sullivan, John L.
Published in Proceedings of the National Academy of Sciences - PNAS (01.04.1987)
Published in Proceedings of the National Academy of Sciences - PNAS (01.04.1987)
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Journal Article
Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q
Tonk, V, Wyandt, H E, Osella, P, Skare, J, Wu, B L, Haddad, B, Milunsky, A
Published in Clinical genetics (01.09.1995)
Published in Clinical genetics (01.09.1995)
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Journal Article
Localization of the gene for human heart fatty acid binding protein to chromosome 1p32-1p33
Troxler, R F, Offner, G D, Jiang, J W, Wu, B L, Skare, J C, Milunsky, A, Wyandt, H E
Published in Human genetics (01.12.1993)
Published in Human genetics (01.12.1993)
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Journal Article
Characterization of Three Overlapping Deletions Causing X-Linked Lymphoproliferative Disease
Skare, James, Wu, Bai-Lin, Madan, Suneeta, Pulijaal, Venkat, Purtilo, David, Haber, Daniel, Nelson, David, Sylla, Bakary, Grierson, Helen, Nitowsky, Harold, Glaser, Joy, Wissink, Julie, White, Bradley, Holden, Jeanette, Housman, David, Lenoir, Gilbert, Wyandt, Herman, Milunsky, Aubrey
Published in Genomics (San Diego, Calif.) (01.04.1993)
Published in Genomics (San Diego, Calif.) (01.04.1993)
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Journal Article
Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37
Skare, J C, Grierson, H L, Sullivan, J L, Nussbaum, R L, Purtilo, D T, Sylla, B S, Lenoir, G M, Reilly, D S, White, B N, Milunsky, A
Published in Human genetics (01.07.1989)
Published in Human genetics (01.07.1989)
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