Bodamer O - Search Results

1

Microarray-based detection of mannose-binding lectin 2 (MBL2) polymorphisms in a routine clinical setting.

Mitterer G, Bodamer O, Harwanegg C, Maurer W, Mueller MW, Schmidt WM. Mitterer G, et al. Among authors: bodamer o. Genet Test. 2005 Spring;9(1):6-13. doi: 10.1089/gte.2005.9.6. Genet Test. 2005. PMID: 15857180

2

Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth.

Bodamer OA, Mitterer G, Maurer W, Pollak A, Mueller MW, Schmidt WM. Bodamer OA, et al. Genet Med. 2006 Aug;8(8):518-24. doi: 10.1097/01.gim.0000232478.43335.19. Genet Med. 2006. PMID: 16912583 Free article.

3

Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.

Morava E, Vodopiutz J, Lefeber DJ, Janecke AR, Schmidt WM, Lechner S, Item CB, Sykut-Cegielska J, Adamowicz M, Wierzba J, Zhang ZH, Mihalek I, Stockler S, Bodamer OA, Lehle L, Wevers RA. Morava E, et al. Pediatrics. 2012 Oct;130(4):e1034-9. doi: 10.1542/peds.2011-2711. Epub 2012 Sep 10. Pediatrics. 2012. PMID: 22966035

4

Rapid and accurate denaturating high performance liquid chromatography protocol for the detection of alpha-l-iduronidase mutations causing mucopolysaccharidosis type I.

Kasper DC, Iqbal F, Dvorakova L, Zeman J, Magner M, Bodamer O, Pollak A, Herkner KR, Item CB. Kasper DC, et al. Among authors: bodamer o. Clin Chim Acta. 2010 Mar;411(5-6):345-50. doi: 10.1016/j.cca.2009.11.027. Epub 2009 Nov 29. Clin Chim Acta. 2010. PMID: 19954743

5

Use of denaturing HPLC to provide efficient detection of mutations causing guanidinoacetate methyltransferase deficiency.

Item CB, Stöckler-Ipsiroglu S, Willheim C, Mühl A, Bodamer OA. Item CB, et al. Among authors: bodamer oa. Mol Genet Metab. 2005 Sep-Oct;86(1-2):328-34. doi: 10.1016/j.ymgme.2005.05.010. Epub 2005 Jul 28. Mol Genet Metab. 2005. PMID: 16054853

6

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.

Gubbels CS, VanNoy GE, Madden JA, Copenheaver D, Yang S, Wojcik MH, Gold NB, Genetti CA, Stoler J, Parad RB, Roumiantsev S, Bodamer O, Beggs AH, Juusola J, Agrawal PB, Yu TW. Gubbels CS, et al. Among authors: bodamer o. Genet Med. 2020 Apr;22(4):736-744. doi: 10.1038/s41436-019-0708-6. Epub 2019 Nov 29. Genet Med. 2020. PMID: 31780822 Free PMC article.

7

Transcobalamin II deficiency at birth.

Ratschmann R, Minkov M, Kis A, Hung C, Rupar T, Mühl A, Fowler B, Nexo E, Bodamer OA. Ratschmann R, et al. Mol Genet Metab. 2009 Nov;98(3):285-8. doi: 10.1016/j.ymgme.2009.06.003. Epub 2009 Jun 6. Mol Genet Metab. 2009. PMID: 19581117

8

B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement.

Guillard M, Morava E, de Ruijter J, Roscioli T, Penzien J, van den Heuvel L, Willemsen MA, de Brouwer A, Bodamer OA, Wevers RA, Lefeber DJ. Guillard M, et al. J Pediatr. 2011 Dec;159(6):1041-3.e2. doi: 10.1016/j.jpeds.2011.08.007. Epub 2011 Sep 13. J Pediatr. 2011. PMID: 21920538 Free article.

9

Congenital disorders of glycosylation--a challenging group of IEMs.

Vodopiutz J, Bodamer OA. Vodopiutz J, et al. Among authors: bodamer oa. J Inherit Metab Dis. 2008 Apr;31(2):267-9. doi: 10.1007/s10545-008-0849-2. Epub 2008 Apr 4. J Inherit Metab Dis. 2008. PMID: 18392739 Review.

10

The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).

Iqbal F, Item CB, Vilaseca MA, Jalan A, Mühl A, Couce ML, Duat A, Delgado MP, Bosch J, Puche A, Campistol J, Pineda M, Bodamer OA. Iqbal F, et al. Mol Genet Metab. 2010 May;100(1):42-5. doi: 10.1016/j.ymgme.2009.12.016. Epub 2010 Jan 4. Mol Genet Metab. 2010. PMID: 20083419

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