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Results: 1 to 20 of 56

1.

Compound Heterozygosity of Low-Frequency Promoter Deletions and Rare Loss-of-Function Mutations in TXNL4A Causes Burn-McKeown Syndrome.

Wieczorek D, Newman WG, Wieland T, Berulava T, Kaffe M, Falkenstein D, Beetz C, Graf E, Schwarzmayr T, Douzgou S, Clayton-Smith J, Daly SB, Williams SG, Bhaskar SS, Urquhart JE, Anderson B, O'Sullivan J, Boute O, Gundlach J, Czeschik JC, van Essen AJ, Hazan F, Park S, Hing A, Kuechler A, Lohmann DR, Ludwig KU, Mangold E, Steenpaß L, Zeschnigk M, Lemke JR, Lourenco CM, Hehr U, Prott EC, Waldenberger M, Böhmer AC, Horsthemke B, O'Keefe RT, Meitinger T, Burn J, Lüdecke HJ, Strom TM.

Am J Hum Genet. 2014 Dec 4;95(6):698-707. doi: 10.1016/j.ajhg.2014.10.014. Epub 2014 Nov 26.

PMID:
25434003
[PubMed - in process]
2.

Evolutionary origin and methylation status of human intronic CpG islands that are not present in mouse.

Rademacher K, Schröder C, Kanber D, Klein-Hitpass L, Wallner S, Zeschnigk M, Horsthemke B.

Genome Biol Evol. 2014 Jun 12;6(7):1579-88. doi: 10.1093/gbe/evu125.

PMID:
24923327
[PubMed - in process]
Free PMC Article
3.

Methylation analysis of SST and SSTR4 promoters in the neocortex of Alzheimer's disease patients.

Grosser C, Neumann L, Horsthemke B, Zeschnigk M, van de Nes J.

Neurosci Lett. 2014 Apr 30;566:241-6. doi: 10.1016/j.neulet.2014.02.046. Epub 2014 Mar 3.

PMID:
24602981
[PubMed - indexed for MEDLINE]
4.

Impact of 5-aza-2'-deoxycytidine and epigallocatechin-3-gallate for induction of human regulatory T cells.

Kehrmann J, Tatura R, Zeschnigk M, Probst-Kepper M, Geffers R, Steinmann J, Buer J.

Immunology. 2014 Jul;142(3):384-95. doi: 10.1111/imm.12261.

PMID:
24476360
[PubMed - indexed for MEDLINE]
5.

BAP1 germline mutation in two first grade family members with uveal melanoma.

Maerker DA, Zeschnigk M, Nelles J, Lohmann DR, Worm K, Bosserhoff AK, Krupar R, Jägle H.

Br J Ophthalmol. 2014 Feb;98(2):224-7. doi: 10.1136/bjophthalmol-2013-303814. Epub 2013 Nov 1.

PMID:
24187051
[PubMed - indexed for MEDLINE]
6.

A new face of Borjeson-Forssman-Lehmann syndrome? De novo mutations in PHF6 in seven females with a distinct phenotype.

Zweier C, Kraus C, Brueton L, Cole T, Degenhardt F, Engels H, Gillessen-Kaesbach G, Graul-Neumann L, Horn D, Hoyer J, Just W, Rauch A, Reis A, Wollnik B, Zeschnigk M, Lüdecke HJ, Wieczorek D.

J Med Genet. 2013 Dec;50(12):838-47. doi: 10.1136/jmedgenet-2013-101918. Epub 2013 Oct 3.

PMID:
24092917
[PubMed - indexed for MEDLINE]
7.

A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Wieczorek D, Bögershausen N, Beleggia F, Steiner-Haldenstätt S, Pohl E, Li Y, Milz E, Martin M, Thiele H, Altmüller J, Alanay Y, Kayserili H, Klein-Hitpass L, Böhringer S, Wollstein A, Albrecht B, Boduroglu K, Caliebe A, Chrzanowska K, Cogulu O, Cristofoli F, Czeschik JC, Devriendt K, Dotti MT, Elcioglu N, Gener B, Goecke TO, Krajewska-Walasek M, Guillén-Navarro E, Hayek J, Houge G, Kilic E, Simsek-Kiper PÖ, López-González V, Kuechler A, Lyonnet S, Mari F, Marozza A, Mathieu Dramard M, Mikat B, Morin G, Morice-Picard F, Ozkinay F, Rauch A, Renieri A, Tinschert S, Utine GE, Vilain C, Vivarelli R, Zweier C, Nürnberg P, Rahmann S, Vermeesch J, Lüdecke HJ, Zeschnigk M, Wollnik B.

Hum Mol Genet. 2013 Dec 20;22(25):5121-35. doi: 10.1093/hmg/ddt366. Epub 2013 Aug 1.

PMID:
23906836
[PubMed - indexed for MEDLINE]
Free Article
8.

[Uveal melanoma: current insights into clinical relevance of genetic testing].

Metz CH, Lohmann D, Zeschnigk M, Bornfeld N.

Klin Monbl Augenheilkd. 2013 Jul;230(7):686-91. doi: 10.1055/s-0033-1350628. Epub 2013 Jul 22. Review. German.

PMID:
23877823
[PubMed - indexed for MEDLINE]
9.

TERT promoter mutations in ocular melanoma distinguish between conjunctival and uveal tumours.

Griewank KG, Murali R, Schilling B, Scholz S, Sucker A, Song M, Süsskind D, Grabellus F, Zimmer L, Hillen U, Steuhl KP, Schadendorf D, Westekemper H, Zeschnigk M.

Br J Cancer. 2013 Jul 23;109(2):497-501. doi: 10.1038/bjc.2013.312. Epub 2013 Jun 25.

PMID:
23799844
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.

Martin M, Maßhöfer L, Temming P, Rahmann S, Metz C, Bornfeld N, van de Nes J, Klein-Hitpass L, Hinnebusch AG, Horsthemke B, Lohmann DR, Zeschnigk M.

Nat Genet. 2013 Aug;45(8):933-6. doi: 10.1038/ng.2674. Epub 2013 Jun 23.

PMID:
23793026
[PubMed - indexed for MEDLINE]
11.

Lack of SF3B1 R625 mutations in cutaneous melanoma.

Schilling B, Bielefeld N, Sucker A, Hillen U, Zimmer L, Schadendorf D, Zeschnigk M, Griewank KG.

Diagn Pathol. 2013 May 21;8:87. doi: 10.1186/1746-1596-8-87.

PMID:
23694694
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Ultradeep sequencing detects GNAQ and GNA11 mutations in cell-free DNA from plasma of patients with uveal melanoma.

Metz CH, Scheulen M, Bornfeld N, Lohmann D, Zeschnigk M.

Cancer Med. 2013 Apr;2(2):208-15. doi: 10.1002/cam4.61. Epub 2013 Feb 14.

PMID:
23634288
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.

Czeschik JC, Voigt C, Alanay Y, Albrecht B, Avci S, Fitzpatrick D, Goudie DR, Hehr U, Hoogeboom AJ, Kayserili H, Simsek-Kiper PO, Klein-Hitpass L, Kuechler A, López-González V, Martin M, Rahmann S, Schweiger B, Splitt M, Wollnik B, Lüdecke HJ, Zeschnigk M, Wieczorek D.

Hum Genet. 2013 Aug;132(8):885-98. doi: 10.1007/s00439-013-1295-2. Epub 2013 Apr 9.

PMID:
23568615
[PubMed - indexed for MEDLINE]
14.

Molecular pathology of uveal melanoma.

Coupland SE, Lake SL, Zeschnigk M, Damato BE.

Eye (Lond). 2013 Feb;27(2):230-42. doi: 10.1038/eye.2012.255. Epub 2012 Dec 7. Review.

PMID:
23222563
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Quantification of regulatory T cells in septic patients by real-time PCR-based methylation assay and flow cytometry.

Tatura R, Zeschnigk M, Adamzik M, Probst-Kepper M, Buer J, Kehrmann J.

PLoS One. 2012;7(11):e49962. doi: 10.1371/journal.pone.0049962. Epub 2012 Nov 27.

PMID:
23209626
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

FOXP3 Expression in GARP-Transduced Helper T Cells Is Not Associated with FOXP3 TSDR Demethylation.

Kehrmann J, Zeschnigk M, Buer J, Probst-Kepper M.

Transfus Med Hemother. 2011 Oct;38(5):287-291. Epub 2011 Sep 12.

PMID:
22670117
[PubMed]
Free PMC Article
17.

Prognostic significance of chromosome 3 alterations determined by microsatellite analysis in uveal melanoma: a long-term follow-up study.

Thomas S, Pütter C, Weber S, Bornfeld N, Lohmann DR, Zeschnigk M.

Br J Cancer. 2012 Mar 13;106(6):1171-6. doi: 10.1038/bjc.2012.54. Epub 2012 Feb 21.

PMID:
22353812
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

EFS shows biallelic methylation in uveal melanoma with poor prognosis as well as tissue-specific methylation.

Neumann LC, Weinhäusel A, Thomas S, Horsthemke B, Lohmann DR, Zeschnigk M.

BMC Cancer. 2011 Aug 26;11:380. doi: 10.1186/1471-2407-11-380.

PMID:
21871071
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Chemosensitivity of conjunctival melanoma cell lines to chemotherapeutic agents.

Westekemper H, Freistuehler M, Anastassiou G, Nareyeck G, Zeschnigk M, Bornfeld N, Steuhl KP, Scheulen ME, Hilger RA.

Int J Clin Pharmacol Ther. 2011 Jan;49(1):78-80. No abstract available.

PMID:
21176737
[PubMed - indexed for MEDLINE]
20.

Expression of MCSP and PRAME in conjunctival melanoma.

Westekemper H, Karimi S, Süsskind D, Anastassiou G, Freistühler M, Meller D, Zeschnigk M, Steuhl KP, Bornfeld N, Schmid KW, Grabellus F.

Br J Ophthalmol. 2010 Oct;94(10):1322-7. doi: 10.1136/bjo.2009.167445. Epub 2010 Aug 30.

PMID:
20805128
[PubMed - indexed for MEDLINE]
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