Zschocke J - Search Results

1

Quantification of the methylation status of the PWS/AS imprinted region: comparison of two approaches based on bisulfite sequencing and methylation-sensitive MLPA.

Dikow N, Nygren AO, Schouten JP, Hartmann C, Krämer N, Janssen B, Zschocke J. Dikow N, et al. Among authors: zschocke j. Mol Cell Probes. 2007 Jun;21(3):208-15. doi: 10.1016/j.mcp.2006.12.002. Epub 2007 Jan 12. Mol Cell Probes. 2007. PMID: 17303379

2

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

3

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

4

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

5

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

6

Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany.

Birk Møller L, Nygren AO, Scott P, Hougaard P, Bieber Nielsen J, Hartmann C, Güttler F, Tyfield L, Zschocke J. Birk Møller L, et al. Among authors: zschocke j. Hum Mutat. 2007 Feb;28(2):207. doi: 10.1002/humu.9481. Hum Mutat. 2007. PMID: 17221866

7

Abnormal myelination in Angelman syndrome.

Harting I, Seitz A, Rating D, Sartor K, Zschocke J, Janssen B, Ebinger F, Wolf NI. Harting I, et al. Among authors: zschocke j. Eur J Paediatr Neurol. 2009 May;13(3):271-6. doi: 10.1016/j.ejpn.2008.04.005. Epub 2008 Jun 24. Eur J Paediatr Neurol. 2009. PMID: 18573670

8

Relevance of allosteric conformations and homocarnosine concentration on carnosinase activity.

Peters V, Kebbewar M, Jansen EW, Jakobs C, Riedl E, Koeppel H, Frey D, Adelmann K, Klingbeil K, Mack M, Hoffmann GF, Janssen B, Zschocke J, Yard BA. Peters V, et al. Among authors: zschocke j. Amino Acids. 2010 May;38(5):1607-15. doi: 10.1007/s00726-009-0367-z. Epub 2009 Nov 14. Amino Acids. 2010. PMID: 19915793

9

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

Szklarczyk R, Wanschers BF, Nijtmans LG, Rodenburg RJ, Zschocke J, Dikow N, van den Brand MA, Hendriks-Franssen MG, Gilissen C, Veltman JA, Nooteboom M, Koopman WJ, Willems PH, Smeitink JA, Huynen MA, van den Heuvel LP. Szklarczyk R, et al. Among authors: zschocke j. Hum Mol Genet. 2013 Feb 15;22(4):656-67. doi: 10.1093/hmg/dds473. Epub 2012 Nov 2. Hum Mol Genet. 2013. PMID: 23125284

10

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy.

Haack TB, Staufner C, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H. Haack TB, et al. Among authors: zschocke j. Am J Hum Genet. 2015 Jul 2;97(1):163-9. doi: 10.1016/j.ajhg.2015.05.009. Epub 2015 Jun 11. Am J Hum Genet. 2015. PMID: 26073778 Free PMC article.

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