The genetics of cataract: our vision becomes clearer.

Por Hejtmancik, J F
Publicado em 1998

Identification and functional clustering of global gene expression differences between age-related cataract and clear human lenses and aged human lenses

Por Hawse, J.R., Hejtmancik, J.F., Horwitz, J., Kantorow, M.
Publicado em 2004

Linkage mapping of a large Colombian family segregating for X linked retinoschisis: refinement of the chromosomal location.

Por Shastry, B S, Hejtmancik, J F, Rodriguez, A, Rodriguez, F, Tamayo, M L
Publicado em 1997

Novel locus for X linked recessive high myopia maps to Xq23–q25 but outside MYP1

Por Zhang, Q, Guo, X, Xiao, X, Jia, X, Li, S, Hejtmancik, J F
Publicado em 2006

In vitro translation of hypoxanthine/guanine phosphoribosyltransferase mRNA: characterization of a mouse neuroblastoma cell line that has elevated levels of hypoxanthine/guanine ph...

Por Melton, D W, Konecki, D S, Ledbetter, D H, Hejtmancik, J F, Caskey, C T
Publicado em 1981

A new locus for autosomal dominant posterior polar cataract in Moroccan Jews maps to chromosome 14q22‐23

Por Pras, E, Mahler, O, Kumar, V, Frydman, M, Gefen, N, Pras, E, Hejtmancik, J F
Publicado em 2006

NcoI and TaqI RFLPs for human M creatine kinase (CKM)

Por Perryman, M B, Hejtmancik, J F, Ashizawa, T, Armstrong, R, Lin, S C, Roberts, R, Epstein, H F
Publicado em 1988

Autosomal dominant zonular cataract with sutural opacities localized to chromosome 17q11-12.

Por Padma, T, Ayyagari, R, Murty, J S, Basti, S, Fletcher, T, Rao, G N, Kaiser-Kupfer, M, Hejtmancik, J F
Publicado em 1995

Methionine sulfoxide reductase A is important for lens cell viability and resistance to oxidative stress

Por Kantorow, Marc, Hawse, John R., Cowell, Tracy L., Benhamed, Sonia, Pizarro, Gresin O., Reddy, Venkat N., Hejtmancik, J. F.
Publicado em 2004

Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis.

Por Ward, P A, Hejtmancik, J F, Witkowski, J A, Baumbach, L L, Gunnell, S, Speer, J, Hawley, P, Tantravahi, U, Caskey, C T
Publicado em 1989

Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26).

Por Huang, T H, Hejtmancik, J F, Edwards, A, Pettigrew, A L, Herrera, C A, Hammond, H A, Caskey, C T, Zoghbi, H Y, Ledbetter, D H
Publicado em 1991

Uniparental disomy as a mechanism for human genetic disease.

Por 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
Publicado em 1988

exomeSuite: Whole exome sequence variant filtering tool for rapid identification of putative disease causing SNVs/indels

Por 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.
Publicado em 2014