23 results for author:"Strom C." in Literature citations
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| FMR1 premutation carrier frequency in patients undergoing routine population-based carrier screening: insights into the prevalence of fragile X syndrome, fragile X-associated tremor/ataxia syndrome, and fragile X-associated primary ovarian insufficiency in the United States. Hantash F.M., Goos D.M., Crossley B., Anderson B., Zhang K., Sun W., Strom C.M. Genet. Med. 13:39-45(2011) · Mapped (8) |
| Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Valente E.M., Logan C.V., Mougou-Zerelli S., Lee J.H., Silhavy J.L., Brancati F., Iannicelli M., Travaglini L., Romani S., Illi B. et al. |
| XRCC1 phosphorylation by CK2 is required for its stability and efficient DNA repair. Parsons J.L., Dianova I.I., Finch D., Tait P.S., Strom C.E., Helleday T., Dianov G.L. DNA Repair (Amst.) 9:835-841(2010) · Mapped (5) |
| Ku is a 5'-dRP/AP lyase that excises nucleotide damage near broken ends. Roberts S.A., Strande N., Burkhalter M.D., Strom C., Havener J.M., Hasty P., Ramsden D.A. |
| Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening. Hantash F.M., Goos D.G., Tsao D., Quan F., Buller-Burckle A., Peng M., Jarvis M., Sun W., Strom C.M. Genet. Med. 12:162-173(2010) · Mapped (8) |
| Improving accuracy of Tay Sachs carrier screening of the non-Jewish population: analysis of 34 carriers and six late-onset patients with HEXA enzyme and DNA sequence analysis. Park N.J., Morgan C., Sharma R., Li Y., Lobo R.M., Redman J.B., Salazar D., Sun W., Neidich J.A., Strom C.M. Pediatr. Res. 67:217-220(2010) · Mapped (8) |
| Prevalence of known mutations in the familial Mediterranean fever gene (MEFV) in various carrier screening populations. Mikula M., Buller A., Sun W., Strom C.M. Genet. Med. 10:349-352(2008) · Mapped (6) |
| Characterization of a recurrent novel large duplication in the cystic fibrosis transmembrane conductance regulator gene. Hantash F.M., Redman J.B., Goos D., Kammesheidt A., McGinniss M.J., Sun W., Strom C.M. J Mol Diagn 9:556-560(2007) · Mapped (45) |
| CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype. Sun W., Anderson B., Redman J., Milunsky A., Buller A., McGinniss M.J., Quan F., Anguiano A., Huang S., Hantash F. et al. Genet. Med. 8:339-345(2006) · Mapped (45) |
| Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population. Hantash F.M., Olson S.C., Anderson B., Buller A., Chen R., Crossly B., Sun W., Strom C.M. J Mol Diagn 8:282-287(2006) · Mapped (3) |
| A large deletion in the CFTR gene in CBAVD. Hantash F.M., Milunsky A., Wang Z., Anderson B., Sun W., Anguiano A., Strom C.M. Genet. Med. 8:93-95(2006) · Mapped (45) |
| Sequence variations in AGTR2 are unlikely to be associated with X-linked mental retardation. Huang D., Sun W., Strom C.M. Am. J. Med. Genet. A 139:243-244(2005) · Mapped (1) |
| Increased natriuretic peptide receptor A and C gene expression in rats with pressure-overload cardiac hypertrophy. Christoffersen T.E., Aplin M., Strom C.C., Sheikh S.P., Skott O., Busk P.K., Haunso S., Nielsen L.B. Am. J. Physiol. Heart Circ. Physiol. 290:H1635-41(2006) · Mapped (1) |
| Eater, a transmembrane protein mediating phagocytosis of bacterial pathogens in Drosophila. Kocks C., Cho J.H., Nehme N., Ulvila J., Pearson A.M., Meister M., Strom C., Conto S.L., Hetru C., Stuart L.M. et al. Cell 123:335-346(2005) · Mapped (54) |
| Extensive sequencing of the CFTR gene: lessons learned from the first 157 patient samples. McGinniss M.J., Chen C., Redman J.B., Buller A., Quan F., Peng M., Giusti R., Hantash F.M., Huang D., Sun W. et al. Hum. Genet. 118:331-338(2005) · Mapped (45) |
| RAR-related orphan receptor A isoform 1 (RORa1) is disrupted by a balanced translocation t(4;15)(q22.3;q21.3) associated with severe obesity. Klar J., Asling B., Carlsson B., Ulvsback M., Dellsen A., Strom C., Rhedin M., Forslund A., Anneren G., Ludvigsson J.F. et al. Eur. J. Hum. Genet. 13:928-934(2005) · Mapped (3) |
| Detection of 677CT/1298AC "double variant" chromosomes: implications for interpretation of MTHFR genotyping results. Brown N.M., Pratt V.M., Buller A., Pike-Buchanan L., Redman J.B., Sun W., Chen R., Crossley B., McGinniss M.J., Quan F. et al. Genet. Med. 7:278-282(2005) · Mapped (6) |
| Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study. Monaghan K.G., Highsmith W.E., Amos J., Pratt V.M., Roa B., Friez M., Pike-Buchanan L.L., Buyse I.M., Redman J.B., Strom C.M. et al. Genet. Med. 6:421-425(2004) · Mapped (45) |
| Frequency of the cystic fibrosis 3199del6 mutation in individuals heterozygous for I148T. Buller A., Olson S., Redman J.B., Hantash F., Chen R., Strom C.M. Genet. Med. 6:108-109(2004) · Mapped (45) |
| Detection of the factor V Leiden mutation by a modified photo-cross-linking oligonucleotide hybridization assay. French C., Li C., Strom C., Sun W., Van Atta R., Gonzalez B., Wood M. Clin. Chem. 50:296-305(2004) · Mapped (13) |
| Cystic fibrosis screening using the College panel: platform comparison and lessons learned from the first 20,000 samples. Strom C.M., Huang D., Buller A., Redman J., Crossley B., Anderson B., Entwistle T., Sun W. Genet. Med. 4:289-296(2002) · Mapped (45) |
| Isolation and characterization of genomic clones corresponding to the human type II procollagen gene. Strom C.M., Upholt W.B. Nucleic Acids Res. 12:1025-1038(1984) · UniProtKB (1) |
| Nonrandom association of a type II procollagen genotype with achondroplasia. Eng C.E., Pauli R.M., Strom C.M. Proc. Natl. Acad. Sci. U.S.A. 82:5465-5469(1985) · Mapped (6) |