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Items: 1 to 20 of 73

1.

Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies.

Birtel J, Gliem M, Hess K, Birtel TH, Holz FG, Zechner U, Bolz HJ, Herrmann P.

Genes (Basel). 2020 Jan 28;11(2). pii: E137. doi: 10.3390/genes11020137.

2.

Promoter methylation status of ASC/TMS1/PYCARD is associated with decreased overall survival and TNM status in patients with early stage non-small cell lung cancer (NSCLC).

Šutić M, Motzek A, Bubanović G, Linke M, Sabol I, Vugrek O, Ozretić P, Brčić L, Seiwerth S, Debeljak Ž, Jakovčević A, Janevski Z, Stančić-Rokotov D, Vukić-Dugac A, Jakopović M, Samaržija M, Zechner U, Knežević J.

Transl Lung Cancer Res. 2019 Dec;8(6):1000-1015. doi: 10.21037/tlcr.2019.12.08.

3.

Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome.

Cooper A, Butto T, Hammer N, Jagannath S, Fend-Guella DL, Akhtar J, Radyushkin K, Lesage F, Winter J, Strand S, Roeper J, Zechner U, Schweiger S.

Nat Commun. 2020 Jan 24;11(1):480. doi: 10.1038/s41467-019-13918-4.

4.

Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration.

Preising MN, Görg B, Friedburg C, Qvartskhava N, Budde BS, Bonus M, Toliat MR, Pfleger C, Altmüller J, Herebian D, Beyer M, Zöllner HJ, Wittsack HJ, Schaper J, Klee D, Zechner U, Nürnberg P, Schipper J, Schnitzler A, Gohlke H, Lorenz B, Häussinger D, Bolz HJ.

FASEB J. 2019 Oct;33(10):11507-11527. doi: 10.1096/fj.201900914RR. Epub 2019 Jul 25.

PMID:
31345061
5.

Tissue-specific mosaicism in a patient with Rubinstein-Taybi syndrome and CREBBP exon 1 duplication.

Gucev ZS, Tasic VB, Saveski A, Polenakovic MH, Laban NB, Zechner U, Bartsch O.

Clin Dysmorphol. 2019 Jul;28(3):142-144. doi: 10.1097/MCD.0000000000000268. No abstract available.

PMID:
30921089
6.

The DNA methylation profile of human spermatogonia at single-cell- and single-allele-resolution refutes its role in spermatogonial stem cell function and germ cell differentiation.

Fend-Guella DL, von Kopylow K, Spiess AN, Schulze W, Salzbrunn A, Diederich S, El Hajj N, Haaf T, Zechner U, Linke M.

Mol Hum Reprod. 2019 Jun 6;25(6):283-294. doi: 10.1093/molehr/gaz017.

PMID:
30892608
7.

Superovulation Influences Methylation Reprogramming and Delays Onset of DNA Replication in Both Pronuclei of Mouse Zygotes.

Diken E, Linke M, Baumgart J, Eshkind L, Strand D, Strand S, Zechner U.

Cytogenet Genome Res. 2018 Oct 30. doi: 10.1159/000493779. [Epub ahead of print]

8.

Early-life adversity selectively impairs α2-GABAA receptor expression in the mouse nucleus accumbens and influences the behavioral effects of cocaine.

Mitchell SJ, Maguire EP, Cunningham L, Gunn BG, Linke M, Zechner U, Dixon CI, King SL, Stephens DN, Swinny JD, Belelli D, Lambert JJ.

Neuropharmacology. 2018 Oct;141:98-112. doi: 10.1016/j.neuropharm.2018.08.021. Epub 2018 Aug 21.

9.

Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.

Komlosi K, Diederich S, Fend-Guella DL, Bartsch O, Winter J, Zechner U, Beck M, Meyer P, Schweiger S.

Orphanet J Rare Dis. 2018 Jan 26;13(1):23. doi: 10.1186/s13023-018-0763-0.

10.

Targeted next-generation sequencing of cancer genes in poorly differentiated thyroid cancer.

Gerber TS, Schad A, Hartmann N, Springer E, Zechner U, Musholt TJ.

Endocr Connect. 2018 Jan;7(1):47-55. doi: 10.1530/EC-17-0290. Epub 2017 Nov 13.

11.

The FOXP2-Driven Network in Developmental Disorders and Neurodegeneration.

Oswald F, Klöble P, Ruland A, Rosenkranz D, Hinz B, Butter F, Ramljak S, Zechner U, Herlyn H.

Front Cell Neurosci. 2017 Jul 26;11:212. doi: 10.3389/fncel.2017.00212. eCollection 2017.

12.

Novel clinical findings in the first Egyptian case of Sotos syndrome caused by complete deletion of the NSD1 gene.

Abdalla E, Bartsch O, Galetzka D, Zechner U.

Am J Med Genet A. 2017 Apr;173(4):1090-1093. doi: 10.1002/ajmg.a.38107. No abstract available.

PMID:
28328121
13.

De-novo Williams-Beuren and inherited Marfan syndromes in a patient with developmental delay and lens dislocation.

Budisteanu M, Papuc SM, Tutulan-Cunita AC, Budisteanu B, Weis E, Arghir A, Zechner U, Bartsch O.

Clin Dysmorphol. 2017 Jul;26(3):187-189. doi: 10.1097/MCD.0000000000000180. No abstract available.

PMID:
28277377
14.

Kaiso mediates human ICR1 methylation maintenance and H19 transcriptional fine regulation.

Bohne F, Langer D, Martiné U, Eider CS, Cencic R, Begemann M, Elbracht M, Bülow L, Eggermann T, Zechner U, Pelletier J, Zabel BU, Enklaar T, Prawitt D.

Clin Epigenetics. 2016 May 4;8:47. doi: 10.1186/s13148-016-0215-4. eCollection 2016.

15.

Abnormal Hypermethylation at Imprinting Control Regions in Patients with S-Adenosylhomocysteine Hydrolase (AHCY) Deficiency.

Motzek A, Knežević J, Switzeny OJ, Cooper A, Barić I, Beluzić R, Strauss KA, Puffenberger EG, Mudd SH, Vugrek O, Zechner U.

PLoS One. 2016 Mar 14;11(3):e0151261. doi: 10.1371/journal.pone.0151261. eCollection 2016.

16.

CAF-like state in primary skin fibroblasts with constitutional BRCA1 epimutation sheds new light on tumor suppressor deficiency-related changes in healthy tissue.

Etzold A, Galetzka D, Weis E, Bartsch O, Haaf T, Spix C, Itzel T, Schweiger S, Strand D, Strand S, Zechner U.

Epigenetics. 2016;11(2):120-31. doi: 10.1080/15592294.2016.1140295. Epub 2016 Mar 7.

17.

Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.

Vona B, Lechno S, Hofrichter MA, Hopf S, Läig AK, Haaf T, Keilmann A, Zechner U, Bartsch O.

Ear Hear. 2016 Jul-Aug;37(4):e238-46. doi: 10.1097/AUD.0000000000000278.

PMID:
26849169
18.

Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR.

Wilmanns C, Cooper A, Wockner L, Katsandris S, Glaser N, Meyer A, Bartsch O, Binder H, Walter PK, Zechner U.

EBioMedicine. 2015 Jan 15;2(2):158-64. doi: 10.1016/j.ebiom.2015.01.006. eCollection 2015 Feb.

19.

Dppa3 expression is critical for generation of fully reprogrammed iPS cells and maintenance of Dlk1-Dio3 imprinting.

Xu X, Smorag L, Nakamura T, Kimura T, Dressel R, Fitzner A, Tan X, Linke M, Zechner U, Engel W, Pantakani DV.

Nat Commun. 2015 Jan 23;6:6008. doi: 10.1038/ncomms7008.

20.

Further evidence for pathogenicity of the TP53 tetramerization domain mutation p.Arg342Pro in Li-Fraumeni syndrome.

Etzold A, Schröder JC, Bartsch O, Zechner U, Galetzka D.

Fam Cancer. 2015 Mar;14(1):161-5. doi: 10.1007/s10689-014-9754-z.

PMID:
25226867

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