Battelino T - Search Results

1

Expanded Newborn Screening Program in Slovenia using Tandem Mass Spectrometry and Confirmatory Next Generation Sequencing Genetic Testing.

Lampret BR, Remec ŽI, Torkar AD, Tanšek MŽ, Šmon A, Koračin V, Čuk V, Perko D, Ulaga B, Jelovšek AM, Debeljak M, Kovač J, Battelino T, Grošelj U. Lampret BR, et al. Among authors: battelino t. Zdr Varst. 2020 Oct 18;59(4):256-263. doi: 10.2478/sjph-2020-0032. eCollection 2020 Dec. Zdr Varst. 2020. PMID: 33133282 Free PMC article.

2

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: battelino t. Eur J Endocrinol. 2007 May;156(5):511-9. doi: 10.1530/EJE-07-0037. Eur J Endocrinol. 2007. PMID: 17468186

3

Correlation between AVPR2 mutations and urinary AQP2 excretion in patients with nephrogenic diabetes insipidus.

Kotnik P, Battelino T, Debeljak M, Podkrajsek KT, Waldhauser F, Frøkiaer J, Nielsen S, Krzisnik C. Kotnik P, et al. Among authors: battelino t. J Pediatr Endocrinol Metab. 2007 Apr;20(4):483-9. doi: 10.1515/jpem.2007.20.4.483. J Pediatr Endocrinol Metab. 2007. PMID: 17550212

4

Lack of association of common allelic variants in the thyroglobulin gene with Hashimoto's thyroiditis in young subjects with type 1 diabetes.

Kotnik P, Debeljak M, Avbelj M, Hovnik T, Ursic Bratina N, Krzisnik C, Battelino T. Kotnik P, et al. Among authors: battelino t. Horm Res Paediatr. 2010;73(4):244-7. doi: 10.1159/000284388. Epub 2010 Mar 9. Horm Res Paediatr. 2010. PMID: 20215770

5

GPR143 gene mutation analysis in pediatric patients with albinism.

Trebušak Podkrajšek K, Stirn Kranjc B, Hovnik T, Kovač J, Battelino T. Trebušak Podkrajšek K, et al. Among authors: battelino t. Ophthalmic Genet. 2012 Sep;33(3):167-70. doi: 10.3109/13816810.2011.559651. Epub 2012 Apr 9. Ophthalmic Genet. 2012. PMID: 22486324

6

Five novel mutations and two large deletions in a population analysis of the phenylalanine hydroxylase gene.

Groselj U, Tansek MZ, Kovac J, Hovnik T, Podkrajsek KT, Battelino T. Groselj U, et al. Among authors: battelino t. Mol Genet Metab. 2012 Jun;106(2):142-8. doi: 10.1016/j.ymgme.2012.03.015. Epub 2012 Apr 1. Mol Genet Metab. 2012. PMID: 22513348

7

Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population.

Tansek MZ, Groselj U, Murko S, Kobe H, Lampret BR, Battelino T. Tansek MZ, et al. Among authors: battelino t. Mol Genet Metab. 2012 Sep;107(1-2):37-42. doi: 10.1016/j.ymgme.2012.07.010. Epub 2012 Jul 20. Mol Genet Metab. 2012. PMID: 22917871

8

Cathepsin C gene 5'-untranslated region mutation in papillon-lefèvre syndrome.

Kosem R, Debeljak M, Repič Lampret B, Kansky A, Battelino T, Trebušak Podkrajšek K. Kosem R, et al. Among authors: battelino t. Dermatology. 2012;225(3):193-203. doi: 10.1159/000342509. Epub 2012 Oct 27. Dermatology. 2012. PMID: 23108224

9

The IVS8-2A>G (c.913-2A>G) mutation and the PAH deficiency populations of Central Europe.

Groselj U, Tansek MZ, Podkrajsek KT, Battelino T. Groselj U, et al. Among authors: battelino t. J Inherit Metab Dis. 2013 Jan;36(1):157. doi: 10.1007/s10545-012-9562-2. Epub 2012 Nov 16. J Inherit Metab Dis. 2013. PMID: 23160875 No abstract available.

10

Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation.

Hovnik T, Bratanič N, Podkrajšek KT, Kovač J, Paro D, Podnar T, Bratina N, Battelino T. Hovnik T, et al. Among authors: battelino t. Eur J Pediatr. 2013 Aug;172(8):1125-9. doi: 10.1007/s00431-012-1901-7. Epub 2012 Dec 11. Eur J Pediatr. 2013. PMID: 23229189

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