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Results: 1-12 |
Results: 12
Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome2, with homoallelism for mutations in RPE65 or MERTK, respectively
Authors: Thompson, DA McHenry, CL Li, Y Richards, JE Othman, MI Schwinger, E Vollrath, D Jacobson, SG Gal, A
Citation: Da. Thompson et al., Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome2, with homoallelism for mutations in RPE65 or MERTK, respectively, AM J HU GEN, 70(1), 2002, pp. 224-229
Correction of the retinal dystrophy phenotype of the RCS rat by viral genetransfer of Mertk
Authors: Vollrath, D Feng, W Duncan, JL Yasumura, D D'Cruz, PM Chappelow, A Matthes, MT Kay, MA LaVail, MM
Citation: D. Vollrath et al., Correction of the retinal dystrophy phenotype of the RCS rat by viral genetransfer of Mertk, P NAS US, 98(22), 2001, pp. 12584-12589
Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC
Authors: Wiggs, JL Vollrath, D
Citation: Jl. Wiggs et D. Vollrath, Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC, ARCH OPHTH, 119(11), 2001, pp. 1674-1678
Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa
Authors: Gal, A Li, Y Thompson, DA Weir, J Orth, U Jacobson, SG Apfelstedt-Sylla, E Vollrath, D
Citation: A. Gal et al., Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa, NAT GENET, 26(3), 2000, pp. 270-271
Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat
Authors: D'Cruz, PM Yasumura, D Weir, J Matthes, MT Abderrahim, H LaVail, MM Vollrath, D
Citation: Pm. D'Cruz et al., Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat, HUM MOL GEN, 9(4), 2000, pp. 645-651
Mutations in KRIT1 in familial cerebral cavernous malformations - Comment
Authors: Steinberg, GK Vollrath, D
Citation: Gk. Steinberg et D. Vollrath, Mutations in KRIT1 in familial cerebral cavernous malformations - Comment, NEUROSURGER, 46(5), 2000, pp. 1278-1278
Population genetic implications from sequence variation in four Y chromosome genes
Authors: Shen, PD Wang, F Underhill, PA Franco, C Yang, WH Roxas, A Sung, R Lin, AA Hyman, RW Vollrath, D Davis, RW Cavalli-Sforza, LL Oefner, PJ
Citation: Pd. Shen et al., Population genetic implications from sequence variation in four Y chromosome genes, P NAS US, 97(13), 2000, pp. 7354-7359
Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma
Authors: Shimizu, S Lichter, PR Johnson, AT Zhou, ZH Higashi, M Gottfredsdottir, M Othman, M Moroi, SE Rozsa, FW Schertzer, RM Clarke, MS Schwartz, AL Downs, CA Vollrath, D Richards, JE
Citation: S. Shimizu et al., Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma, AM J OPHTH, 130(2), 2000, pp. 165-177
A sequence-ready BAC clone contig of a 2.2-Mb segment of human chromosome 1q24
Authors: Vollrath, D Jaramillo-Babb, VL
Citation: D. Vollrath et Vl. Jaramillo-babb, A sequence-ready BAC clone contig of a 2.2-Mb segment of human chromosome 1q24, GENOME RES, 9(2), 1999, pp. 150-157
DNA markers for physical mapping
Authors: Vollrath, D
Citation: D. Vollrath, DNA markers for physical mapping, GENOME ANAL, 4, 1999, pp. 187-215
A cellular assay distinguishes normal and mutant TIGR/myocilin protein
Authors: Zhou, ZH Vollrath, D
Citation: Zh. Zhou et D. Vollrath, A cellular assay distinguishes normal and mutant TIGR/myocilin protein, HUM MOL GEN, 8(12), 1999, pp. 2221-2228
An orthopaedic scoring system for nail-patella syndrome and application toa kindred with variable expressivity and glaucoma
Authors: Farley, FA Lichter, PR Downs, CA McIntosh, I Vollrath, D Richards, JE
Citation: Fa. Farley et al., An orthopaedic scoring system for nail-patella syndrome and application toa kindred with variable expressivity and glaucoma, J PED ORTH, 19(5), 1999, pp. 624-631
Risultati: 1-12 |