Holinski-Feder E - Search Results

1

Metabolic targeting of cancer by a ubiquinone uncompetitive inhibitor of mitochondrial complex I.

Jain S, Hu C, Kluza J, Ke W, Tian G, Giurgiu M, Bleilevens A, Campos AR, Charbono A, Stickeler E, Maurer J, Holinski-Feder E, Vaisburg A, Bureik M, Luo G, Marchetti P, Cheng Y, Wolf DA. Jain S, et al. Cell Chem Biol. 2022 Mar 17;29(3):436-450.e15. doi: 10.1016/j.chembiol.2021.11.002. Epub 2021 Nov 30. Cell Chem Biol. 2022. PMID: 34852219 Free article.

2

Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer.

Scharf F, Leal Silva RM, Morak M, Hastie A, Pickl JMA, Sendelbach K, Gebhard C, Locher M, Laner A, Steinke-Lange V, Koehler U, Holinski-Feder E, Wolf DA. Scharf F, et al. J Med Genet. 2022 Oct;59(10):976-983. doi: 10.1136/jmedgenet-2021-108147. Epub 2021 Dec 14. J Med Genet. 2022. PMID: 34911816 Free PMC article.

3

Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing.

Erdmann H, Schöberl F, Giurgiu M, Leal Silva RM, Scholz V, Scharf F, Wendlandt M, Kleinle S, Deschauer M, Nübling G, Heide W, Babacan SS, Schneider C, Neuhann T, Hahn K, Schoser B, Holinski-Feder E, Wolf DA, Abicht A. Erdmann H, et al. Brain. 2023 May 2;146(5):1831-1843. doi: 10.1093/brain/awac377. Brain. 2023. PMID: 36227727

4

Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome.

Schwenk V, Leal Silva RM, Scharf F, Knaust K, Wendlandt M, Häusser T, Pickl JMA, Steinke-Lange V, Laner A, Morak M, Holinski-Feder E, Wolf DA. Schwenk V, et al. J Med Genet. 2023 Aug;60(8):747-759. doi: 10.1136/jmg-2022-108931. Epub 2023 Jan 2. J Med Genet. 2023. PMID: 36593122 Free PMC article.

5

Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC.

Morak M, Schackert HK, Rahner N, Betz B, Ebert M, Walldorf C, Royer-Pokora B, Schulmann K, von Knebel-Doeberitz M, Dietmaier W, Keller G, Kerker B, Leitner G, Holinski-Feder E. Morak M, et al. Eur J Hum Genet. 2008 Jul;16(7):804-11. doi: 10.1038/ejhg.2008.25. Epub 2008 Feb 27. Eur J Hum Genet. 2008. PMID: 18301449

6

Report on de-novo mutation in the MSH2 gene as a rare event in hereditary nonpolyposis colorectal cancer.

Morak M, Laner A, Scholz M, Madorf T, Holinski-Feder E. Morak M, et al. Eur J Gastroenterol Hepatol. 2008 Nov;20(11):1101-5. doi: 10.1097/MEG.0b013e328305e185. Eur J Gastroenterol Hepatol. 2008. PMID: 19047842

7

A novel 1p31.3p32.2 deletion involving the NFIA gene detected by array CGH in a patient with macrocephaly and hypoplasia of the corpus callosum.

Koehler U, Holinski-Feder E, Ertl-Wagner B, Kunz J, von Moers A, von Voss H, Schell-Apacik C. Koehler U, et al. Eur J Pediatr. 2010 Apr;169(4):463-8. doi: 10.1007/s00431-009-1057-2. Epub 2009 Sep 8. Eur J Pediatr. 2010. PMID: 19763616

8

Single cell analysis of mutations in the APC gene.

Mayer V, Schoen U, Holinski-Feder E, Koehler U, Thalhammer S. Mayer V, et al. Fetal Diagn Ther. 2009;26(3):148-56. doi: 10.1159/000248721. Epub 2009 Oct 13. Fetal Diagn Ther. 2009. PMID: 19828935

9

First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes.

Morak M, Massdorf T, Sykora H, Kerscher M, Holinski-Feder E. Morak M, et al. Eur J Cancer. 2011 May;47(7):1046-55. doi: 10.1016/j.ejca.2010.11.016. Epub 2010 Dec 30. Eur J Cancer. 2011. PMID: 21195604

10

Biallelic MLH1 SNP cDNA expression or constitutional promoter methylation can hide genomic rearrangements causing Lynch syndrome.

Morak M, Koehler U, Schackert HK, Steinke V, Royer-Pokora B, Schulmann K, Kloor M, Höchter W, Weingart J, Keiling C, Massdorf T, Holinski-Feder E; German HNPCC consortium. Morak M, et al. J Med Genet. 2011 Aug;48(8):513-9. doi: 10.1136/jmedgenet-2011-100050. Epub 2011 Jun 28. J Med Genet. 2011. PMID: 21712435 Free article.

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