Krzisnik C - Search Results

1

Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.

Dolzan V, Stopar-Obreza M, Zerjav-Tansek M, Breskvar K, Krzisnik C, Battelino T. Dolzan V, et al. Among authors: krzisnik c. Eur J Endocrinol. 2003 Aug;149(2):137-44. doi: 10.1530/eje.0.1490137. Eur J Endocrinol. 2003. PMID: 12887291

2

Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia.

Dolzan V, Sólyom J, Fekete G, Kovács J, Rakosnikova V, Votava F, Lebl J, Pribilincova Z, Baumgartner-Parzer SM, Riedl S, Waldhauser F, Frisch H, Stopar-Obreza M, Krzisnik C, Battelino T. Dolzan V, et al. Among authors: krzisnik c. Eur J Endocrinol. 2005 Jul;153(1):99-106. doi: 10.1530/eje.1.01944. Eur J Endocrinol. 2005. PMID: 15994751

3

Frequencies of Q188R and N314D mutations and IVS5-24g>A intron variation in the galactose-1-phosphate uridyl transferase (GALT) gene in the Slovenian population.

Lukac-Bajalo J, Marc J, Mlinar B, Karas N, Krzisnik C, Battelino T. Lukac-Bajalo J, et al. Among authors: krzisnik c. Clin Chem Lab Med. 2002 Nov;40(11):1109-13. doi: 10.1515/CCLM.2002.194. Clin Chem Lab Med. 2002. PMID: 12521227

4

A novel L94Q mutation in the CDKN2A gene in a melanoma kindred.

Avbelj M, Hocevar M, Trebusak-Podkrajsek K, Krzisnik C, Battelino T. Avbelj M, et al. Among authors: krzisnik c. Melanoma Res. 2003 Dec;13(6):567-70. doi: 10.1097/01.cmr.0000056289.15046.c0. Melanoma Res. 2003. PMID: 14646619

5

Autoimmune regulator-1 messenger ribonucleic acid analysis in a novel intronic mutation and two additional novel AIRE gene mutations in a cohort of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients.

Podkrajsek KT, Bratanic N, Krzisnik C, Battelino T. Podkrajsek KT, et al. Among authors: krzisnik c. J Clin Endocrinol Metab. 2005 Aug;90(8):4930-5. doi: 10.1210/jc.2005-0418. Epub 2005 May 10. J Clin Endocrinol Metab. 2005. PMID: 15886230

6

High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis.

Avbelj M, Tahirovic H, Debeljak M, Kusekova M, Toromanovic A, Krzisnik C, Battelino T. Avbelj M, et al. Among authors: krzisnik c. Eur J Endocrinol. 2007 May;156(5):511-9. doi: 10.1530/EJE-07-0037. Eur J Endocrinol. 2007. PMID: 17468186

7

Five year treatment with IGF-I of a patient with Laron syndrome in Slovenia (a follow-up report).

Krzisnik C, Battelino T. Krzisnik C, et al. J Pediatr Endocrinol Metab. 1997 Jul-Aug;10(4):443-7. doi: 10.1515/jpem.1997.10.4.443. J Pediatr Endocrinol Metab. 1997. PMID: 9364374

8

Incidence of type 1 diabetes mellitus in children in Slovenia during the years 1988-1995.

Battelino T, Krzisnik C. Battelino T, et al. Among authors: krzisnik c. Acta Diabetol. 1998 Jul;35(2):112-4. doi: 10.1007/s005920050115. Acta Diabetol. 1998. PMID: 9747966

9

The HLA-DRB, -DQB polymorphism and anti-insulin antibody response in Slovenian patients with type 1 diabetes.

Battelino T, Ursic-Bratina N, Dolzan V, Stopar-Obreza M, Pozzilli P, Krzisnik C, Vidan-Jeras B. Battelino T, et al. Among authors: krzisnik c. Eur J Immunogenet. 2003 Jun;30(3):223-7. doi: 10.1046/j.1365-2370.2003.00395.x. Eur J Immunogenet. 2003. PMID: 12787001

10

The use of continuous subcutaneous insulin infusion (CSII) as the treatment of choice in children and adolescents with type 1 diabetes.

Battelino T, Ursic-Bratina N, Bratanic N, Zerjav-Tansek M, Avbelj M, Krzisnik C. Battelino T, et al. Among authors: krzisnik c. Pediatr Endocrinol Rev. 2004 Aug;1 Suppl 3:537-9. Pediatr Endocrinol Rev. 2004. PMID: 16444189

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