Neitzel H - Search Results

1

Assisted reproductive technologies do not enhance the variability of DNA methylation imprints in human.

Tierling S, Souren NY, Gries J, Loporto C, Groth M, Lutsik P, Neitzel H, Utz-Billing I, Gillessen-Kaesbach G, Kentenich H, Griesinger G, Sperling K, Schwinger E, Walter J. Tierling S, et al. Among authors: neitzel h. J Med Genet. 2010 Jun;47(6):371-6. doi: 10.1136/jmg.2009.073189. Epub 2009 Nov 30. J Med Genet. 2010. PMID: 19948534

2

Mutations in microcephalin cause aberrant regulation of chromosome condensation.

Trimborn M, Bell SM, Felix C, Rashid Y, Jafri H, Griffiths PD, Neumann LM, Krebs A, Reis A, Sperling K, Neitzel H, Jackson AP. Trimborn M, et al. Among authors: neitzel h. Am J Hum Genet. 2004 Aug;75(2):261-6. doi: 10.1086/422855. Epub 2004 Jun 15. Am J Hum Genet. 2004. PMID: 15199523 Free PMC article.

3

The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype.

Trimborn M, Richter R, Sternberg N, Gavvovidis I, Schindler D, Jackson AP, Prott EC, Sperling K, Gillessen-Kaesbach G, Neitzel H. Trimborn M, et al. Among authors: neitzel h. Hum Mutat. 2005 Nov;26(5):496. doi: 10.1002/humu.9382. Hum Mutat. 2005. PMID: 16211557

4

Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotype.

Dutrannoy V, Demuth I, Baumann U, Schindler D, Konrat K, Neitzel H, Gillessen-Kaesbach G, Radszewski J, Rothe S, Schellenberger MT, Nürnberg G, Nürnberg P, Teik KW, Nallusamy R, Reis A, Sperling K, Digweed M, Varon R. Dutrannoy V, et al. Among authors: neitzel h. Hum Mutat. 2010 Sep;31(9):1059-68. doi: 10.1002/humu.21315. Hum Mutat. 2010. PMID: 20597108

5

Evidence for an increase in trisomy 21 (Down syndrome) in Europe after the Chernobyl reactor accident.

Sperling K, Neitzel H, Scherb H. Sperling K, et al. Among authors: neitzel h. Genet Epidemiol. 2012 Jan;36(1):48-55. doi: 10.1002/gepi.20662. Epub 2011 Dec 7. Genet Epidemiol. 2012. PMID: 22162022

6

Population monitoring of trisomy 21: problems and approaches.

Sperling K, Scherb H, Neitzel H. Sperling K, et al. Among authors: neitzel h. Mol Cytogenet. 2023 May 14;16(1):6. doi: 10.1186/s13039-023-00637-1. Mol Cytogenet. 2023. PMID: 37183244 Free PMC article. Review.

7

Premature chromosome condensation in humans associated with microcephaly and mental retardation: a novel autosomal recessive condition.

Neitzel H, Neumann LM, Schindler D, Wirges A, Tönnies H, Trimborn M, Krebsova A, Richter R, Sperling K. Neitzel H, et al. Am J Hum Genet. 2002 Apr;70(4):1015-22. doi: 10.1086/339518. Epub 2002 Feb 20. Am J Hum Genet. 2002. PMID: 11857108 Free PMC article.

8

Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome.

Bürger J, Horn D, Tönnies H, Neitzel H, Reis A. Bürger J, et al. Among authors: neitzel h. Am J Med Genet. 2002 Aug 15;111(3):233-7. doi: 10.1002/ajmg.10498. Am J Med Genet. 2002. PMID: 12210318

9

Cancer incidence in Nijmegen breakage syndrome is modulated by the amount of a variant NBS protein.

Krüger L, Demuth I, Neitzel H, Varon R, Sperling K, Chrzanowska KH, Seemanova E, Digweed M. Krüger L, et al. Among authors: neitzel h. Carcinogenesis. 2007 Jan;28(1):107-11. doi: 10.1093/carcin/bgl126. Epub 2006 Jul 13. Carcinogenesis. 2007. PMID: 16840438

10

Dosage effect of zero to three functional LBR-genes in vivo and in vitro.

Gravemann S, Schnipper N, Meyer H, Vaya A, Nowaczyk MJ, Rajab A, Hofmann WK, Salewsky B, Tönnies H, Neitzel H, Stassen HH, Sperling K, Hoffmann K. Gravemann S, et al. Among authors: neitzel h. Nucleus. 2010 Mar-Apr;1(2):179-89. doi: 10.4161/nucl.1.2.11113. Epub 2010 Jan 3. Nucleus. 2010. PMID: 21326950 Free PMC article.

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