Methionine Sulfoxide Reductase A Is Important for Lens Cell Viability and Resistance to Oxidative Stress
Kantorow, Marc, Hawse, John R., Cowell, Tracy L., Benhamed, Sonia, Pizarro, Gresin O., Reddy, Venkat N., Hejtmancik, J. F., Weissbach, Herbert
Published in Proceedings of the National Academy of Sciences - PNAS (29.06.2004)
Published in Proceedings of the National Academy of Sciences - PNAS (29.06.2004)
Get full text
Journal Article
Novel locus for X linked recessive high myopia maps to Xq23–q25 but outside MYP1
Zhang, Q, Guo, X, Xiao, X, Jia, X, Li, S, Hejtmancik, J F
Published in Journal of medical genetics (01.05.2006)
Published in Journal of medical genetics (01.05.2006)
Get full text
Journal Article
β-Crystallin association
Hejtmancik, J.F., Wingfield, P.T., Sergeev, Y.V.
Published in Experimental eye research (01.09.2004)
Published in Experimental eye research (01.09.2004)
Get full text
Journal Article
X-linked dilated cardiomyopathy. Molecular genetic evidence of linkage to the Duchenne muscular dystrophy (dystrophin) gene at the Xp21 locus
Towbin, J A, Hejtmancik, J F, Brink, P, Gelb, B, Zhu, X M, Chamberlain, J S, McCabe, E R, Swift, M
Published in Circulation (New York, N.Y.) (01.06.1993)
Published in Circulation (New York, N.Y.) (01.06.1993)
Get full text
Journal Article
Mutational spectrum in Usher syndrome type II
Ouyang, XM, Yam, D, Hejtmancik, JF, Jacobson, SG, Li, AR, Du, LL, Angeli, S, Kaiser, M, Balkany, T, Liu, XZ
Published in Clinical genetics (01.04.2004)
Published in Clinical genetics (01.04.2004)
Get full text
Journal Article
USH1C: a rare cause of USH1 in a non-Acadian population and a founder effect of the Acadian allele
Ouyang, XM, Hejtmancik, JF, Jacobson, SG, Xia, XJ, Li, A, Du, LL, Newton, V, Kaiser, M, Balkany, T, Nance, WE, Liu, X-Z
Published in Clinical genetics (01.02.2003)
Published in Clinical genetics (01.02.2003)
Get full text
Journal Article
Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12
PADMA, T, AYYAGARI, R, MURTY, J. S, BASTI, S, FLETCHER, T, RAO, G. N, KAISER-KUPFER, M, HEJTMANCIK, J. F
Published in American journal of human genetics (01.10.1995)
Get full text
Published in American journal of human genetics (01.10.1995)
Journal Article
exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels
Maranhao, B., Biswas, P., Duncan, J.L., Branham, K.E., Silva, G.A., Naeem, M.A., Khan, S.N., Riazuddin, S., Hejtmancik, J.F., Heckenlively, J.R., Riazuddin, S.A., Lee, P.L., Ayyagari, R.
Published in Genomics (San Diego, Calif.) (01.02.2014)
Published in Genomics (San Diego, Calif.) (01.02.2014)
Get full text
Journal Article
Evidence of genetic heterogeneity in Romano-Ward long QT syndrome : analysis of 23 families
TOWBIN, J. A, HUA LI, TAGGART, R, LEHMANN, M. H, SCHWARTZ, P. J, SATLER, C. A, AYYAGARI, R, ROBINSON, J. L, MOSS, A, HEJTMANCIK, J. F
Published in Circulation (New York, N.Y.) (01.12.1994)
Published in Circulation (New York, N.Y.) (01.12.1994)
Get full text
Journal Article
Localization of the Usher Syndrome Type ID Gene (Ush1D) to Chromosome 10
Wayne, Sigrid, Der Kaloustian, Vazken M., Schloss, Melvin, Polomeno, Robert, Scott, Daryl A., Hejtmancik, J. Fielding, Sheffield, Val C., Smith, Richard J. H.
Published in Human molecular genetics (01.10.1996)
Published in Human molecular genetics (01.10.1996)
Get full text
Journal Article
Comparison of ultraviolet induced photo-kinetics for lens-derived and recombinant beta-crystallins
Ostrovsky, M A, Sergeev, Y V, Atkinson, D B, Soustov, L V, Hejtmancik, J F
Published in Molecular vision (20.03.2002)
Get full text
Published in Molecular vision (20.03.2002)
Journal Article
Uniparental disomy as a mechanism for human genetic disease
SPENCE, J. E, PERCIACCANTE, R. G, GREIG, G. M, WILLARD, H. F, LEDBETTER, D. H, HEJTMANCIK, J. F, POLLACK, M. S, O'BRIEN, W. E, BEAUDET, A. L
Published in American journal of human genetics (01.02.1988)
Get full text
Published in American journal of human genetics (01.02.1988)
Journal Article
Molecular Genetics of Human Blue Cone Monochromacy
Nathans, Jeremy, Davenport, Carol M., Maumenee, Irene H., Lewis, Richard Alan, Hejtmancik, J. Fielding, Litt, Michael, Lovrien, Everett, Weleber, Richard, Bachynski, Brian, Zwas, Fred, Klingaman, Roger, Fishman, Gerald
Published in Science (American Association for the Advancement of Science) (25.08.1989)
Published in Science (American Association for the Advancement of Science) (25.08.1989)
Get full text
Journal Article
Anticipation in myotonic dystrophy. I. Statistical verification based on clinical and haplotype findings
Ashizawa, T, Dunne, C J, Dubel, J R, Perryman, M B, Epstein, H F, Boerwinkle, E, Hejtmancik, J F
Published in Neurology (01.10.1992)
Published in Neurology (01.10.1992)
Get more information
Journal Article
A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22-23
Pras, E, Mahler, O, Kumar, V, Frydman, M, Gefen, N, Pras, E, Hejtmancik, J F
Published in Journal of medical genetics (01.10.2006)
Published in Journal of medical genetics (01.10.2006)
Get full text
Journal Article