Maier EM - Search Results

1

Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment.

Stadler SC, Polanetz R, Maier EM, Heidenreich SC, Niederer B, Mayerhofer PU, Lagler F, Koch HG, Santer R, Fletcher JM, Ranieri E, Das AM, Spiekerkötter U, Schwab KO, Pötzsch S, Marquardt I, Hennermann JB, Knerr I, Mercimek-Mahmutoglu S, Kohlschmidt N, Liebl B, Fingerhut R, Olgemöller B, Muntau AC, Roscher AA, Röschinger W. Stadler SC, et al. Among authors: maier em. Hum Mutat. 2006 Aug;27(8):748-59. doi: 10.1002/humu.20349. Hum Mutat. 2006. PMID: 16835865

2

A novel sequence polymorphism in the promoter region of the human B2-bradykinin receptor gene.

Braun A, Maier E, Kammerer S, Müller B, Roscher AA. Braun A, et al. Hum Genet. 1996 May;97(5):688-9. doi: 10.1007/BF02281884. Hum Genet. 1996. PMID: 8655154

3

Polymorphisms in the gene for the human B2-bradykinin receptor. New tools in assessing a genetic risk for bradykinin-associated diseases.

Braun A, Kammerer S, Maier E, Böhme E, Roscher AA. Braun A, et al. Immunopharmacology. 1996 Jun;33(1-3):32-5. doi: 10.1016/0162-3109(96)00079-3. Immunopharmacology. 1996. PMID: 8856111

4

Characterization of a novel mutation in exon 10 of the adrenoleukodystrophy gene.

Holzinger A, Maier E, Stöckler-Ipsiroglu S, Braun A, Roscher AA. Holzinger A, et al. Clin Genet. 1998 Jun;53(6):482-7. doi: 10.1111/j.1399-0004.1998.tb02600.x. Clin Genet. 1998. PMID: 9712540

5

Prenatal diagnosis of X-linked adrenoleukodystrophy combining biochemical, immunocytochemical and DNA analyses.

Maier EM, Roscher AA, Kammerer S, Mehnert K, Conzelmann E, Holzinger A. Maier EM, et al. Prenat Diagn. 1999 Apr;19(4):364-8. Prenat Diagn. 1999. PMID: 10327143

6

Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency.

Holzinger A, Maier EM, Bück C, Mayerhofer PU, Kappler M, Haworth JC, Moroz SP, Hadorn HB, Sadler JE, Roscher AA. Holzinger A, et al. Among authors: maier em. Am J Hum Genet. 2002 Jan;70(1):20-5. doi: 10.1086/338456. Epub 2001 Nov 21. Am J Hum Genet. 2002. PMID: 11719902 Free PMC article.

7

Lung function of school children with low levels of alpha1-antitrypsin and tobacco smoke exposure.

von Ehrenstein OS, von Mutius E, Maier E, Hirsch T, Carr D, Schaal W, Roscher AA, Olgemöller B, Nicolai T, Weiland SK. von Ehrenstein OS, et al. Eur Respir J. 2002 Jun;19(6):1099-106. doi: 10.1183/09031936.02.00104302. Eur Respir J. 2002. PMID: 12108863 Free article.

8

Symptoms in carriers of adrenoleukodystrophy relate to skewed X inactivation.

Maier EM, Kammerer S, Muntau AC, Wichers M, Braun A, Roscher AA. Maier EM, et al. Ann Neurol. 2002 Nov;52(5):683-8. doi: 10.1002/ana.10376. Ann Neurol. 2002. PMID: 12402273

9

Evidence against the adrenoleukodystrophy-related gene acting as a modifier of X-adrenoleukodystrophy.

Holzinger A, Mayerhofer PU, Maier EM, Roscher AA, Berger J. Holzinger A, et al. Among authors: maier em. Adv Exp Med Biol. 2003;544:95-6. doi: 10.1007/978-1-4419-9072-3_13. Adv Exp Med Biol. 2003. PMID: 14713219 No abstract available.

10

Alpha1 antitrypsin and the prevalence and severity of asthma.

von Ehrenstein OS, Maier EM, Weiland SK, Carr D, Hirsch T, Nicolai T, Roscher AA, von Mutius E. von Ehrenstein OS, et al. Among authors: maier em. Arch Dis Child. 2004 Mar;89(3):230-1. doi: 10.1136/adc.2002.023614. Arch Dis Child. 2004. PMID: 14977698 Free PMC article.

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