Zschocke J - Search Results

1

Large BRCA1 gene deletions are found in 3% of German high-risk breast cancer families.

Hartmann C, John AL, Klaes R, Hofmann W, Bielen R, Koehler R, Janssen B, Bartram CR, Arnold N, Zschocke J. Hartmann C, et al. Among authors: zschocke j. Hum Mutat. 2004 Dec;24(6):534. doi: 10.1002/humu.9291. Hum Mutat. 2004. PMID: 15532023

2

The diagnosis of mitochondrial HMG-CoA synthase deficiency.

Zschocke J, Penzien JM, Bielen R, Casals N, Aledo R, Pié J, Hoffmann GF, Hegardt FG, Mayatepek E. Zschocke J, et al. J Pediatr. 2002 Jun;140(6):778-80. doi: 10.1067/mpd.2002.123854. J Pediatr. 2002. PMID: 12072887

3

Phenylketonuria mutations in Europe.

Zschocke J. Zschocke J. Hum Mutat. 2003 Apr;21(4):345-56. doi: 10.1002/humu.10192. Hum Mutat. 2003. PMID: 12655544 Review.

4

The molecular basis of phenylalanine hydroxylase deficiency in Croatia.

Zschocke J, Preusse A, Sarnavka V, Fumic K, Mardesic D, Hoffmann GF, Baric I. Zschocke J, et al. Hum Mutat. 2003 Apr;21(4):399. doi: 10.1002/humu.9115. Hum Mutat. 2003. PMID: 12655552

5

Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency.

Lindner M, Steinfeld R, Burgard P, Schulze A, Mayatepek E, Zschocke J. Lindner M, et al. Among authors: zschocke j. Hum Mutat. 2003 Apr;21(4):400. doi: 10.1002/humu.9117. Hum Mutat. 2003. PMID: 12655554

6

Mutations in the AUH gene cause 3-methylglutaconic aciduria type I.

Ly TB, Peters V, Gibson KM, Liesert M, Buckel W, Wilcken B, Carpenter K, Ensenauer R, Hoffmann GF, Mack M, Zschocke J. Ly TB, et al. Among authors: zschocke j. Hum Mutat. 2003 Apr;21(4):401-7. doi: 10.1002/humu.10202. Hum Mutat. 2003. PMID: 12655555

7

MLPA analysis for the detection of deletions, duplications and complex rearrangements in the dystrophin gene: potential and pitfalls.

Janssen B, Hartmann C, Scholz V, Jauch A, Zschocke J. Janssen B, et al. Among authors: zschocke j. Neurogenetics. 2005 Feb;6(1):29-35. doi: 10.1007/s10048-004-0204-1. Epub 2005 Jan 18. Neurogenetics. 2005. PMID: 15655674

8

Identification of 14 novel mutations in DHCR7 causing the Smith-Lemli-Opitz syndrome and delineation of the DHCR7 mutational spectra in Spain and Italy.

Witsch-Baumgartner M, Clayton P, Clusellas N, Haas D, Kelley RI, Krajewska-Walasek M, Lechner S, Rossi M, Zschocke J, Utermann G. Witsch-Baumgartner M, et al. Among authors: zschocke j. Hum Mutat. 2005 Apr;25(4):412. doi: 10.1002/humu.9328. Hum Mutat. 2005. PMID: 15776424

9

Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1.

Janssen B, Hohenadel D, Brinkkoetter P, Peters V, Rind N, Fischer C, Rychlik I, Cerna M, Romzova M, de Heer E, Baelde H, Bakker SJ, Zirie M, Rondeau E, Mathieson P, Saleem MA, Meyer J, Köppel H, Sauerhoefer S, Bartram CR, Nawroth P, Hammes HP, Yard BA, Zschocke J, van der Woude FJ. Janssen B, et al. Among authors: zschocke j. Diabetes. 2005 Aug;54(8):2320-7. doi: 10.2337/diabetes.54.8.2320. Diabetes. 2005. PMID: 16046297

10

Allelic variation in the CNDP1 gene and its lack of association with longevity and coronary heart disease.

Zschocke J, Nebel A, Wicks K, Peters V, El Mokhtari NE, Krawczak M, van der Woude F, Janssen B, Schreiber S. Zschocke J, et al. Mech Ageing Dev. 2006 Nov;127(11):817-20. doi: 10.1016/j.mad.2006.08.002. Epub 2006 Sep 11. Mech Ageing Dev. 2006. PMID: 16965804

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