10 results for author:"Pruhova S." in Literature citations
Results Customize
› Repeat search in UniProtKB (1)
| Ancestral mutations may cause a significant proportion of GCK-MODY. Dusatkova P., Pruhova S., Borowiec M., Vesela K., Antosik K., Lebl J., Mlynarski W., Cinek O. Pediatr Diabetes 13:489-498(2012) · Mapped (3) |
| Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations. Gonsorcikova L., Vaxillaire M., Pruhova S., Dechaume A., Dusatkova P., Cinek O., Pedersen O., Froguel P., Hansen T., Lebl J. Pediatr Diabetes 12:266-269(2011) · Mapped (3) |
| Lack of PAX4 mutations in 53 Czech MODYX families. Dusatkova P., Vesela K., Pruhova S., Lebl J., Cinek O. Diabet. Med. 27:1459-1460(2010) · Mapped (5) |
| Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations. Pruhova S., Dusatkova P., Sumnik Z., Kolouskova S., Pedersen O., Hansen T., Cinek O., Lebl J. Pediatr Diabetes 11:529-535(2010) · Mapped (3) |
| Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY). Boesgaard T.W., Pruhova S., Andersson E.A., Cinek O., Obermannova B., Lauenborg J., Damm P., Bergholdt R., Pociot F., Pisinger C. et al. |
| Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1. Gonsorcikova L., Pruhova S., Cinek O., Ek J., Pelikanova T., Jorgensen T., Eiberg H., Pedersen O., Hansen T., Lebl J. Pediatr Diabetes 9:367-372(2008) · Mapped (3) |
| A novel -192c/g mutation in the proximal P2 promoter of the hepatocyte nuclear factor-4 alpha gene (HNF4A) associates with late-onset diabetes. Ek J., Hansen S.P., Lajer M., Nicot C., Boesgaard T.W., Pruhova S., Johansen A., Albrechtsen A., Yderstraede K., Lauenborg J. et al. Diabetes 55:1869-1873(2006) · Mapped (9) |
| Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4alpha mutations in a large European collection. Pearson E.R., Pruhova S., Tack C.J., Johansen A., Castleden H.A., Lumb P.J., Wierzbicki A.S., Clark P.M., Lebl J., Pedersen O. et al. Diabetologia 48:878-885(2005) · Mapped (26) |
| Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha. Pruhova S., Ek J., Lebl J., Sumnik Z., Saudek F., Andel M., Pedersen O., Hansen T. Diabetologia 46:291-295(2003) · Mapped (29) |
| Genetic evidence that HNF-1alpha-dependent transcriptional control of HNF-4alpha is essential for human pancreatic beta cell function. Hansen S.K., Parrizas M., Jensen M.L., Pruhova S., Ek J., Boj S.F., Johansen A., Maestro M.A., Rivera F., Eiberg H. et al. J. Clin. Invest. 110:827-833(2002) · Mapped (27) |