6 results for author:"Parano E." in Literature citations
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| Congenital insensitivity to pain with Anhidrosis (NTRK1 mutation) and early onset renal disease: clinical report on three sibs with a 25-year follow-up in one of them. Barone R., Lempereur L., Anastasi M., Parano E., Pavone P. Neuropediatrics 36:270-273(2005) · Mapped (2) |
| Worldwide distribution and broader clinical spectrum of muscle-eye-brain disease. Taniguchi K., Kobayashi K., Saito K., Yamanouchi H., Ohnuma A., Hayashi Y.K., Manya H., Jin D.K., Lee M., Parano E. et al. Hum. Mol. Genet. 12:527-534(2003) · UniProtKB (1) |
| TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. Banerjee P., Kleyn P.W., Knowles J.A., Lewis C.A., Ross B.M., Parano E., Kovats S.G., Lee J.J., Penchaszadeh G.K., Ott J. et al. Nat. Genet. 18:177-179(1998) · UniProtKB (1) |
| Identification and analysis of mutations in the Wilson disease gene (ATP7B): population frequencies, genotype-phenotype correlation, and functional analyses. Shah A.B., Chernov I., Zhang H.T., Ross B.M., Das K., Lutsenko S., Parano E., Pavone L., Evgrafov O., Ivanova-Smolenskaya I.A. et al. Am. J. Hum. Genet. 61:317-328(1997) · UniProtKB (1) |
| A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. Carter T.A., Bonnemann C.G., Wang C.H., Obici S., Parano E., Bonaldo M.F., Ross B.M., Penchaszadeh G.K., Mackenzie A.E., Soares M.B. et al. Hum. Mol. Genet. 6:229-236(1997) · UniProtKB (1) |
| The Wilson disease gene is a copper transporting ATPase with homology to the Menkes disease gene. Tanzi R.E., Petrukhin K., Chernov I., Pellequer J.L., Wasco W., Ross B., Romano D.M., Parano E., Pavone L., Brzustowicz L.M. et al. Nat. Genet. 5:344-350(1993) · UniProtKB (1) |