Showing 1 - 12 results of 12 for search 'Gasperíková, D', query time: 0.03s
Refine Results
-
1
-
2
Insulin resistance and intrauterine growth retardation due to a novel balanced translocation [46,t (7;19) (p15.2;p13.2)1 which disrupts the insulin receptor gene by Suliman, S, Gasperikova, D, Stanik, J, Sandrikova, V, Misovicova, N, Wilson, N, Elliot, K, Barak, L, Volpi, E, Klimes, I, Gloyn, A
Published 2007Journal article -
3
-
4
Coincidence of a novel KCNJ11 missense variant R365H with a paternally inherited 6q24 duplication in a patient with transient neonatal diabetes. by Staník, J, Lethby, M, Flanagan, SE, Gasperíková, D, Milosovicová, B, Lever, M, Bullman, H, Zubcevic, L, Hattersley, A, Ellard, S, Ashcroft, F, Klimes, I
Published 2008Journal article -
5
Insulin resistance and intrauterine growth retardation due to a novel balanced translocation (46,t(7;19)(p15.2;p13.2)) which disrupts the insulin receptor (INSR) gene by Suliman, S, Stanik, J, Misovicova, N, Gasperikova, D, Wilson, N, Edghill, E, Sandrikova, V, Elliot, K, Barak, L, Ellard, S, Volpi, E, Klimes, I, Gloyn, A
Published 2007Conference item -
6
Severe insulin resistance and intrauterine growth deficiency associated with haploinsufficiency for INSR and CHN2: new insights into synergistic pathways involved in growth and met... by Suliman, S, Stanik, J, McCulloch, L, Wilson, N, Edghill, E, Misovicova, N, Gasperikova, D, Sandrikova, V, Elliott, K, Barak, L, Ellard, S, Volpi, E, Klimes, I, Gloyn, A
Published 2009Journal article -
7
Identification of a novel beta cell glucokinase (GCK) promoter mutation (-71 G > C) which reduces promoter activity by Gasperikova, D, Tribble, N, Stanik, J, Huckova, M, Misovicova, N, van de Bunt, M, Kuklisova, L, Barrow, B, Barak, L, Dobransky, R, Bereczkova, E, Colclough, K, Ellard, S, Klimes, I, Gloyn, A
Published 2008Conference item -
8
Identification of a Novel beta-Cell Glucokinase (GCK) Promoter Mutation (-71G > C) That Modulates GCK Gene Expression Through Loss of Allele-Specific Sp1 Binding Causing Mild Fa... by Gasperikova, D, Tribble, N, Stanik, J, Huckova, M, Misovicova, N, van de Bunt, M, Valentinova, L, Barrow, B, Barak, L, Dobransky, R, Bereczkova, E, Michalek, J, Wicks, K, Colclough, K, Knight, J, Ellard, S, Klimes, I, Gloyn, A
Published 2009Conference item -
9
Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fast... by Gasperíková, D, Tribble, N, Staník, J, Hucková, M, Misovicová, N, van de Bunt, M, Valentínová, L, Barrow, B, Barák, L, Dobránsky, R, Bereczková, E, Michálek, J, Wicks, K, Colclough, K, Knight, J, Ellard, S, Klimes, I, Gloyn, A
Published 2009Journal article -
10
A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes by Thanabalasingham, G, Shah, N, Vaxillaire, M, Hansen, T, Tuomi, T, Gašperíková, D, Szopa, M, Tjora, E, James, T, Kokko, P, Loiseleur, F, Andersson, E, Gaget, S, Isomaa, B, Nowak, N, Raeder, H, Stanik, J, Njolstad, P, Malecki, M, Klimes, I, Groop, L, Pedersen, O, Froguel, P, McCarthy, M, Gloyn, A
Published 2011Journal article -
11
A large multi-centre European study validates high-sensitivity C-reactive protein (hsCRP) as a clinical biomarker for the diagnosis of diabetes subtypes. by Thanabalasingham, G, Shah, N, Vaxillaire, M, Hansen, T, Tuomi, T, Gašperíková, D, Szopa, M, Tjora, E, James, T, Kokko, P, Loiseleur, F, Andersson, E, Gaget, S, Isomaa, B, Nowak, N, Raeder, H, Stanik, J, Njolstad, P, Malecki, M, Klimes, I, Groop, L, Pedersen, O, Froguel, P, McCarthy, M, Gloyn, A
Published 2011Journal article -
12
Mutations in HNF1A result in marked alterations of plasma glycan profile. by Thanabalasingham, G, Huffman, J, Kattla, J, Novokmet, M, Rudan, I, Gloyn, A, Hayward, C, Adamczyk, B, Reynolds, R, Muzinic, A, Hassanali, N, Pucic, M, Bennett, A, Essafi, A, Polasek, O, Mughal, SA, Redzic, I, Primorac, D, Zgaga, L, Kolcic, I, Hansen, T, Gasperikova, D, Tjora, E, Strachan, M, Nielsen, T
Published 2013Journal article