Oberkanins C - Search Results

1

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.

Shinar Y, Ceccherini I, Rowczenio D, Aksentijevich I, Arostegui J, Ben-Chétrit E, Boursier G, Gattorno M, Hayrapetyan H, Ida H, Kanazawa N, Lachmann HJ, Mensa-Vilaro A, Nishikomori R, Oberkanins C, Obici L, Ohara O, Ozen S, Sarkisian T, Sheils K, Wolstenholme N, Zonneveld-Huijssoon E, van Gijn ME, Touitou I. Shinar Y, et al. Among authors: oberkanins c. Clin Chem. 2020 Apr 1;66(4):525-536. doi: 10.1093/clinchem/hvaa024. Clin Chem. 2020. PMID: 32176780

2

Serum amyloid A1 genotype associates with adult-onset familial Mediterranean fever in patients homozygous for mutation M694V.

Kriegshäuser G, Hayrapetyan H, Atoyan S, Oberkanins C, Sarkisian T. Kriegshäuser G, et al. Among authors: oberkanins c. Rheumatology (Oxford). 2021 Jan 5;60(1):441-444. doi: 10.1093/rheumatology/keaa452. Rheumatology (Oxford). 2021. PMID: 32889548

3

Association between serum amyloid A1 genotype and age of onset restricts to M694 homozygote familial Mediterranean fever patients in Armenia.

Kriegshäuser G, Hayrapetyan H, Atoyan S, Oberkanins C, Sarkisian T. Kriegshäuser G, et al. Among authors: oberkanins c. Clin Exp Rheumatol. 2021 Sep-Oct;39 Suppl 132(5):18-21. doi: 10.55563/clinexprheumatol/hvktbk. Epub 2021 Jun 22. Clin Exp Rheumatol. 2021. PMID: 34251301 Free article.

4

Clinical and genetic heterogeneity in a large cohort of Armenian patients with late-onset familial Mediterranean fever.

Kriegshäuser G, Enko D, Hayrapetyan H, Atoyan S, Oberkanins C, Sarkisian T. Kriegshäuser G, et al. Among authors: oberkanins c. Genet Med. 2018 Dec;20(12):1583-1588. doi: 10.1038/gim.2018.46. Epub 2018 Mar 15. Genet Med. 2018. PMID: 29543225 Free article.

5

Very low frequency of the lactase persistence allele LCT-13910T in the Armenian population.

Németh S, Kriegshäuser G, Hovhannesyan K, Hayrapetyan H, Oberkanins C, Sarkisian T. Németh S, et al. Among authors: oberkanins c. Ann Hum Biol. 2022 Sep;49(5-6):260-262. doi: 10.1080/03014460.2022.2126887. Epub 2022 Nov 2. Ann Hum Biol. 2022. PMID: 36129808 Free article.

6

Genetic testing for familial Mediterranean fever in Austria by means of reverse-hybridization teststrips.

Oberkanins C, Weinhäusel A, Kriegshäuser G, Moritz A, Kury F, Haas OA. Oberkanins C, et al. Clin Chem. 2003 Nov;49(11):1948-50. doi: 10.1373/clinchem.2003.022186. Clin Chem. 2003. PMID: 14578333 No abstract available.

7

Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common alpha-thalassemia point mutations and deletions.

Puehringer H, Najmabadi H, Law HY, Krugluger W, Viprakasit V, Pissard S, Baysal E, Taher A, Farra C, Al-Ali A, Al-Ateeq S, Oberkanins C. Puehringer H, et al. Among authors: oberkanins c. Clin Chem Lab Med. 2007;45(5):605-10. doi: 10.1515/CCLM.2007.125. Clin Chem Lab Med. 2007. PMID: 17484620

8

Plasminogen activator inhibitor 1 4G/5G polymorphism and coagulation factor XIII Val34Leu polymorphism: impaired fibrinolysis and early pregnancy loss.

Dossenbach-Glaninger A, van Trotsenburg M, Dossenbach M, Oberkanins C, Moritz A, Krugluger W, Huber J, Hopmeier P. Dossenbach-Glaninger A, et al. Among authors: oberkanins c. Clin Chem. 2003 Jul;49(7):1081-6. doi: 10.1373/49.7.1081. Clin Chem. 2003. PMID: 12816904

9

Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone.

Németh S, Riedl S, Kriegshäuser G, Baumgartner-Parzer S, Concolino P, Neocleous V, Phylactou LA, Borucka-Mankiewicz M, Onay H, Tukun A, Oberkanins C. Németh S, et al. Among authors: oberkanins c. Clin Chim Acta. 2012 Dec 24;414:211-4. doi: 10.1016/j.cca.2012.09.013. Epub 2012 Sep 14. Clin Chim Acta. 2012. PMID: 22985688

10

Reverse-hybridization resolves a rare HFE genotype untypable by real-time PCR and melting curve analysis in a patient with hyperferritinemia and alcoholic liver disease.

Enko D, Novy M, Oberkanins C, Kriegshäuser G. Enko D, et al. Among authors: oberkanins c. Clin Chem Lab Med. 2019 Aug 27;57(9):e234-e237. doi: 10.1515/cclm-2018-1260. Clin Chem Lab Med. 2019. PMID: 30796842 No abstract available.

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