Neitzel H - Search Results

1

Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.

Krude H, Schütz B, Biebermann H, von Moers A, Schnabel D, Neitzel H, Tönnies H, Weise D, Lafferty A, Schwarz S, DeFelice M, von Deimling A, van Landeghem F, DiLauro R, Grüters A. Krude H, et al. Among authors: neitzel h. J Clin Invest. 2002 Feb;109(4):475-80. doi: 10.1172/JCI14341. J Clin Invest. 2002. PMID: 11854319 Free PMC article.

2

Creation of monosomic derivatives of human cultured cell lines.

Clarke DJ, Giménez-Abián JF, Tönnies H, Neitzel H, Sperling K, Downes CS, Johnson RT. Clarke DJ, et al. Among authors: neitzel h. Proc Natl Acad Sci U S A. 1998 Jan 6;95(1):167-71. doi: 10.1073/pnas.95.1.167. Proc Natl Acad Sci U S A. 1998. PMID: 9419347 Free PMC article.

3

DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

O'Driscoll M, Cerosaletti KM, Girard PM, Dai Y, Stumm M, Kysela B, Hirsch B, Gennery A, Palmer SE, Seidel J, Gatti RA, Varon R, Oettinger MA, Neitzel H, Jeggo PA, Concannon P. O'Driscoll M, et al. Among authors: neitzel h. Mol Cell. 2001 Dec;8(6):1175-85. doi: 10.1016/s1097-2765(01)00408-7. Mol Cell. 2001. PMID: 11779494 Free article.

4

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.

5

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.

Neitzel H, Varon R, Chughtai S, Dartsch J, Dutrannoy-Tönsing V, Nürnberg P, Nürnberg G, Schweiger M, Digweed M, Hildebrand G, Hackmann K, Holtgrewe M, Sarioglu N, Schulze B, Horn D, Sperling K. Neitzel H, et al. Hum Genet. 2022 Nov;141(11):1785-1794. doi: 10.1007/s00439-022-02461-w. Epub 2022 May 10. Hum Genet. 2022. PMID: 35536377 Free PMC article.

6

Telomere attrition and dysfunction: a potential trigger of the progeroid phenotype in nijmegen breakage syndrome.

Habib R, Kim R, Neitzel H, Demuth I, Chrzanowska K, Seemanova E, Faber R, Digweed M, Voss R, Jäger K, Sperling K, Walter M. Habib R, et al. Among authors: neitzel h. Aging (Albany NY). 2020 Jun 20;12(12):12342-12375. doi: 10.18632/aging.103453. Epub 2020 Jun 20. Aging (Albany NY). 2020. PMID: 32564008 Free PMC article.

7

Evidence for a pre-malignant cell line in a skin biopsy from a patient with Nijmegen breakage syndrome.

Habib R, Neitzel H, Ernst A, Wong JKL, Goryluk-Kozakiewicz B, Gerlach A, Demuth I, Sperling K, Chrzanowska K. Habib R, et al. Among authors: neitzel h. Mol Cytogenet. 2018 Feb 7;11:17. doi: 10.1186/s13039-018-0364-6. eCollection 2018. Mol Cytogenet. 2018. PMID: 29445421 Free PMC article.

8

[Survival, Medical Care and Quality of Life in Children with Trisomy 13 and 18].

Kusztrich A, Hüseman D, Garten L, Neitzel H, Bührer C. Kusztrich A, et al. Among authors: neitzel h. Klin Padiatr. 2016 Sep;228(5):240-4. doi: 10.1055/s-0042-113131. Epub 2016 Sep 12. Klin Padiatr. 2016. PMID: 27617759 German.

9

5-Methylcytosine-Rich Heterochromatin in the Indian Muntjac.

Schmid M, Steinlein C, Lomb C, Sperling K, Neitzel H. Schmid M, et al. Among authors: neitzel h. Cytogenet Genome Res. 2015;147(4):240-6. doi: 10.1159/000444431. Epub 2016 Mar 10. Cytogenet Genome Res. 2015. PMID: 26959372

10

Androgen therapy in Fanconi anemia: A retrospective analysis of 30 years in Germany.

Paustian L, Chao MM, Hanenberg H, Schindler D, Neitzel H, Kratz CP, Ebell W. Paustian L, et al. Among authors: neitzel h. Pediatr Hematol Oncol. 2016 Feb;33(1):5-12. doi: 10.3109/08880018.2015.1129567. Epub 2016 Feb 22. Pediatr Hematol Oncol. 2016. PMID: 26900943 Clinical Trial.

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