Neubauer BA - Search Results

1

Triosephosphate isomerase deficiency: biochemical and molecular genetic analysis for prenatal diagnosis.

Pekrun A, Neubauer BA, Eber SW, Lakomek M, Seidel H, Schröter W. Pekrun A, et al. Among authors: neubauer ba. Clin Genet. 1995 Apr;47(4):175-9. doi: 10.1111/j.1399-0004.1995.tb03955.x. Clin Genet. 1995. PMID: 7628118

2

Combination of congenital nonspherocytic haemolytic anaemia and impairment of granulocyte function in severe glucosephosphate isomerase deficiency. A new variant enzyme designated GPI Calden.

Neubauer BA, Eber SW, Lakomek M, Gahr M, Schröter W. Neubauer BA, et al. Acta Haematol. 1990;83(4):206-10. doi: 10.1159/000205215. Acta Haematol. 1990. PMID: 2115718

3

Mutations in the R-type pyruvate kinase gene and altered enzyme kinetic properties in patients with hemolytic anemia due to pyruvate kinase deficiency.

Lakomek M, Huppke P, Neubauer B, Pekrun A, Winkler H, Schröter W. Lakomek M, et al. Ann Hematol. 1994 Nov;69(5):253-60. doi: 10.1007/BF01700280. Ann Hematol. 1994. PMID: 7948315

4

Erythrocyte pyruvate kinase deficiency: relations of residual enzyme activity, altered regulation of defective enzymes and concentrations of high-energy phosphates with the severity of clinical manifestation.

Lakomek M, Neubauer B, von der Lühe A, Hoch G, Winkler H, Schröter W. Lakomek M, et al. Eur J Haematol. 1992 Aug;49(2):82-92. doi: 10.1111/j.1600-0609.1992.tb00036.x. Eur J Haematol. 1992. PMID: 1397245

5

Point mutations in the L-type pyruvate kinase gene of two children with hemolytic anemia caused by pyruvate kinase deficiency.

Neubauer B, Lakomek M, Winkler H, Parke M, Hofferbert S, Schröter W. Neubauer B, et al. Blood. 1991 May 1;77(9):1871-5. Blood. 1991. PMID: 2018831 Free article.

6

An in-frame triplet deletion within the gp91-phox gene in an adult X-linked chronic granulomatous disease patient with residual NADPH-oxidase activity.

Jendrossek V, Ritzel A, Neubauer B, Heyden S, Gahr M. Jendrossek V, et al. Eur J Haematol. 1997 Feb;58(2):78-85. doi: 10.1111/j.1600-0609.1997.tb00928.x. Eur J Haematol. 1997. PMID: 9111587

7

Ring chromosome 22 and neurofibromatosis type II: proof of two-hit model for the loss of the NF2 gene in the development of meningioma.

Zirn B, Arning L, Bartels I, Shoukier M, Hoffjan S, Neubauer B, Hahn A. Zirn B, et al. Clin Genet. 2012 Jan;81(1):82-7. doi: 10.1111/j.1399-0004.2010.01598.x. Epub 2010 Dec 22. Clin Genet. 2012. PMID: 21175598

8

Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype.

Zirn B, Hempel M, Hahn A, Neubauer B, Wagenstaller J, Rivera-Bruguès N, Strom TM, Köhler A. Zirn B, et al. Am J Med Genet A. 2008 Nov 15;146A(22):2960-5. doi: 10.1002/ajmg.a.32536. Am J Med Genet A. 2008. PMID: 18924226 No abstract available.

9

Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy.

Zirn B, Kress W, Grimm T, Berthold LD, Neubauer B, Kuchelmeister K, Müller U, Hahn A. Zirn B, et al. Am J Med Genet A. 2008 Apr 15;146A(8):1049-54. doi: 10.1002/ajmg.a.32259. Am J Med Genet A. 2008. PMID: 18348272

10

Duchenne muscular dystrophy in a 4-year-old girl due to heterozygous frame shift deletion of the dystrophin gene and skewed X-inactivation.

Schänzer A, Rau I, Kress W, Köhler A, Neubauer B, Hahn A. Schänzer A, et al. Klin Padiatr. 2012 Jul;224(4):256-8. doi: 10.1055/s-0032-1304626. Epub 2012 Apr 27. Klin Padiatr. 2012. PMID: 22549471

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