Pruhova S - Search Results

1

Choledochal Cyst with 17q12 Chromosomal Duplication.

Kotalova R, Dusatkova P, Drabova J, Elblova L, Dedic T, Cinek O, Lebl J, Pruhova S. Kotalova R, et al. Among authors: pruhova s. Ann Hum Genet. 2018 Jan;82(1):48-51. doi: 10.1111/ahg.12221. Epub 2017 Sep 22. Ann Hum Genet. 2018. PMID: 28940454

2

Immune system in adults with childhood-onset growth hormone deficiency: effect of growth hormone therapy.

Lebl J, Sediva A, Snajderova M, Pruhova S, Rakosnikova V. Lebl J, et al. Among authors: pruhova s. Endocr Regul. 2000 Dec;34(4):169-73. Endocr Regul. 2000. PMID: 11135489 Clinical Trial.

3

IGF-I resistance and Turner's syndrome.

Lebl J, Průhová S, Zapletalová J, Pechová M. Lebl J, et al. Among authors: pruhova s. J Pediatr Endocrinol Metab. 2001 Jan;14(1):37-41. doi: 10.1515/jpem.2001.14.1.37. J Pediatr Endocrinol Metab. 2001. PMID: 11220703

4

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. Pruhova S, et al. Diabetologia. 2003 Feb;46(2):291-5. doi: 10.1007/s00125-002-1010-7. Epub 2003 Jan 8. Diabetologia. 2003. PMID: 12627330

5

Growth data in large series of 587 children and adolescents with type 1 diabetes mellitus.

Lebl J, Schober E, Zidek T, Baldis S, Rami B, Pruhova S, Kolouskova S, Snajderova M, Frisch H. Lebl J, et al. Among authors: pruhova s. Endocr Regul. 2003 Sep;37(3):153-61. Endocr Regul. 2003. PMID: 14986721

6

Maturity-onset diabetes of the young with end-stage nephropathy: a new indication for simultaneous pancreas and kidney transplantation?

Saudek F, Průhová S, Boucek P, Lebl J, Adamec M, Ek J, Pedersen O, Hansen T. Saudek F, et al. Among authors: pruhova s. Transplantation. 2004 Apr 27;77(8):1298-301. doi: 10.1097/01.tp.0000119721.35506.a7. Transplantation. 2004. PMID: 15114102

7

Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents.

Feigerlová E, Pruhová S, Dittertová L, Lebl J, Pinterová D, Kolostová K, Cerná M, Pedersen O, Hansen T. Feigerlová E, et al. Among authors: pruhova s. Eur J Pediatr. 2006 Jul;165(7):446-52. doi: 10.1007/s00431-006-0106-3. Epub 2006 Apr 7. Eur J Pediatr. 2006. PMID: 16602010

8

Autosomal inheritance of diabetes in two families characterized by obesity and a novel H241Q mutation in NEUROD1.

Gonsorcíková L, Průhová S, Cinek O, Ek J, Pelikánová T, Jørgensen T, Eiberg H, Pedersen O, Hansen T, Lebl J. Gonsorcíková L, et al. Among authors: pruhova s. Pediatr Diabetes. 2008 Aug;9(4 Pt 2):367-72. doi: 10.1111/j.1399-5448.2008.00379.x. Epub 2008 Mar 5. Pediatr Diabetes. 2008. PMID: 18331410

9

Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY).

Boesgaard TW, Pruhova S, Andersson EA, Cinek O, Obermannova B, Lauenborg J, Damm P, Bergholdt R, Pociot F, Pisinger C, Barbetti F, Lebl J, Pedersen O, Hansen T. Boesgaard TW, et al. Among authors: pruhova s. BMC Med Genet. 2010 Mar 12;11:42. doi: 10.1186/1471-2350-11-42. BMC Med Genet. 2010. PMID: 20226046 Free PMC article.

10

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. Pruhova S, et al. Pediatr Diabetes. 2010 Dec;11(8):529-35. doi: 10.1111/j.1399-5448.2010.00646.x. Pediatr Diabetes. 2010. PMID: 20337973

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