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Results: 1 to 20 of 72

1.

A post GWAS association study of SNPs associated with cleft lip with or without cleft palate in submucous cleft palate.

Reiter R, Brosch S, Goebel I, Ludwig KU, Pickhard A, Högel J, Schlömer G, Mangold E, Kubisch C, Borck G.

Am J Med Genet A. 2015 Mar;167(3):670-3. doi: 10.1002/ajmg.a.36891. No abstract available.

PMID:
25691422
[PubMed - in process]
2.

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.

Lessel D, Vaz B, Halder S, Lockhart PJ, Marinovic-Terzic I, Lopez-Mosqueda J, Philipp M, Sim JC, Smith KR, Oehler J, Cabrera E, Freire R, Pope K, Nahid A, Norris F, Leventer RJ, Delatycki MB, Barbi G, von Ameln S, Högel J, Degoricija M, Fertig R, Burkhalter MD, Hofmann K, Thiele H, Altmüller J, Nürnberg G, Nürnberg P, Bahlo M, Martin GM, Aalfs CM, Oshima J, Terzic J, Amor DJ, Dikic I, Ramadan K, Kubisch C.

Nat Genet. 2014 Nov;46(11):1239-44. doi: 10.1038/ng.3103. Epub 2014 Sep 28.

PMID:
25261934
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

SVA retrotransposon insertion-associated deletion represents a novel mutational mechanism underlying large genomic copy number changes with non-recurrent breakpoints.

Vogt J, Bengesser K, Claes KB, Wimmer K, Mautner VF, van Minkelen R, Legius E, Brems H, Upadhyaya M, Högel J, Lazaro C, Rosenbaum T, Bammert S, Messiaen L, Cooper DN, Kehrer-Sawatzki H.

Genome Biol. 2014 Jun 2;15(6):R80. doi: 10.1186/gb-2014-15-6-r80.

PMID:
24958239
[PubMed - in process]
Free PMC Article
4.

Do orofacial clefts represent different genetic entities?

Reiter R, Brosch S, Lüdeke M, Fischbein E, Rinckleb A, Haase S, Schwandt A, Pickhard A, Maier C, Högel J, Vogel W.

Cleft Palate Craniofac J. 2015 Jan;52(1):115-20. doi: 10.1597/13-016.

PMID:
24437586
[PubMed - in process]
5.

Population-specific differences in gene conversion patterns between human SUZ12 and SUZ12P are indicative of the dynamic nature of interparalog gene conversion.

Mussotter T, Bengesser K, Högel J, Cooper DN, Kehrer-Sawatzki H.

Hum Genet. 2014 Apr;133(4):383-401. doi: 10.1007/s00439-013-1410-4. Epub 2014 Jan 3.

PMID:
24385046
[PubMed - indexed for MEDLINE]
6.

Polymerase chain reaction and Southern blot-based analysis of the C9orf72 hexanucleotide repeat in different motor neuron diseases.

Hübers A, Marroquin N, Schmoll B, Vielhaber S, Just M, Mayer B, Högel J, Dorst J, Mertens T, Just W, Aulitzky A, Wais V, Ludolph AC, Kubisch C, Weishaupt JH, Volk AE.

Neurobiol Aging. 2014 May;35(5):1214.e1-6. doi: 10.1016/j.neurobiolaging.2013.11.034. Epub 2013 Dec 4.

PMID:
24378086
[PubMed - indexed for MEDLINE]
7.

Carotenoids are more bioavailable from papaya than from tomato and carrot in humans: a randomised cross-over study.

Schweiggert RM, Kopec RE, Villalobos-Gutierrez MG, Högel J, Quesada S, Esquivel P, Schwartz SJ, Carle R.

Br J Nutr. 2014 Feb;111(3):490-8. doi: 10.1017/S0007114513002596. Epub 2013 Aug 12.

PMID:
23931131
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Further investigations on the modified comet assay for measuring aphidicolin-block nucleotide excision repair.

Speit G, Leibiger C, Kuehner S, Högel J.

Mutagenesis. 2013 Mar;28(2):145-51. doi: 10.1093/mutage/ges063. Epub 2012 Dec 4.

PMID:
23221037
[PubMed - indexed for MEDLINE]
Free Article
9.

Non-coding RNA ANRIL and the number of plexiform neurofibromas in patients with NF1 microdeletions.

Mußotter T, Kluwe L, Högel J, Nguyen R, Cooper DN, Mautner VF, Kehrer-Sawatzki H.

BMC Med Genet. 2012 Oct 26;13:98. doi: 10.1186/1471-2350-13-98.

PMID:
23101500
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorder.

Vogt J, Mussotter T, Bengesser K, Claes K, Högel J, Chuzhanova N, Fu C, van den Ende J, Mautner VF, Cooper DN, Messiaen L, Kehrer-Sawatzki H.

Hum Mutat. 2012 Nov;33(11):1599-609. doi: 10.1002/humu.22171. Epub 2012 Aug 20.

PMID:
22837079
[PubMed - indexed for MEDLINE]
11.

Replication of genetic susceptibility loci for testicular germ cell cancer in the Croatian population.

Lessel D, Gamulin M, Kulis T, Toliat MR, Grgic M, Friedrich K, Zunec R, Balija M, Nürnberg P, Kastelan Z, Högel J, Kubisch C.

Carcinogenesis. 2012 Aug;33(8):1548-52. doi: 10.1093/carcin/bgs218. Epub 2012 Jun 27.

PMID:
22745383
[PubMed - indexed for MEDLINE]
Free Article
12.

Investigations of potential susceptibility toward formaldehyde-induced genotoxicity.

Zeller J, Högel J, Linsenmeyer R, Teller C, Speit G.

Arch Toxicol. 2012 Sep;86(9):1465-73. doi: 10.1007/s00204-012-0830-6. Epub 2012 Mar 13.

PMID:
22411273
[PubMed - indexed for MEDLINE]
13.

Genetic and environmental risk factors for submucous cleft palate.

Reiter R, Brosch S, Lüdeke M, Fischbein E, Haase S, Pickhard A, Assum G, Schwandt A, Vogel W, Högel J, Maier C.

Eur J Oral Sci. 2012 Apr;120(2):97-103. doi: 10.1111/j.1600-0722.2012.00948.x.

PMID:
22409215
[PubMed - indexed for MEDLINE]
14.

Re-evaluation of a reported increased micronucleus frequency in lymphocytes of workers occupationally exposed to formaldehyde.

Speit G, Ladeira C, Linsenmeyer R, Schütz P, Högel J.

Mutat Res. 2012 May 15;744(2):161-6. doi: 10.1016/j.mrgentox.2012.02.009. Epub 2012 Mar 3.

PMID:
22405975
[PubMed - indexed for MEDLINE]
15.

Tissue-specific differences in the proportion of mosaic large NF1 deletions are suggestive of a selective growth advantage of hematopoietic del(+/-) stem cells.

Roehl AC, Mussotter T, Cooper DN, Kluwe L, Wimmer K, Högel J, Zetzmann M, Vogt J, Mautner VF, Kehrer-Sawatzki H.

Hum Mutat. 2012 Mar;33(3):541-50. doi: 10.1002/humu.22013. Epub 2012 Jan 23.

PMID:
22190464
[PubMed - indexed for MEDLINE]
16.

Characterization of the nonallelic homologous recombination hotspot PRS3 associated with type-3 NF1 deletions.

Zickler AM, Hampp S, Messiaen L, Bengesser K, Mussotter T, Roehl AC, Wimmer K, Mautner VF, Kluwe L, Upadhyaya M, Pasmant E, Chuzhanova N, Kestler HA, Högel J, Legius E, Claes K, Cooper DN, Kehrer-Sawatzki H.

Hum Mutat. 2012 Feb;33(2):372-83. doi: 10.1002/humu.21644. Epub 2011 Dec 9.

PMID:
22045503
[PubMed - indexed for MEDLINE]
17.

European Union research and innovation perspectives on biotechnology.

Cichocka D, Claxton J, Economidis I, Högel J, Venturi P, Aguilar A.

J Biotechnol. 2010 Dec 20;156(4):382-91. doi: 10.1016/j.jbiotec.2011.06.032. Epub 2011 Jul 1.

PMID:
21745504
[PubMed - indexed for MEDLINE]
18.

Assessment of genotoxic effects and changes in gene expression in humans exposed to formaldehyde by inhalation under controlled conditions.

Zeller J, Neuss S, Mueller JU, Kühner S, Holzmann K, Högel J, Klingmann C, Bruckner T, Triebig G, Speit G.

Mutagenesis. 2011 Jul;26(4):555-61. doi: 10.1093/mutage/ger016. Epub 2011 Apr 2.

PMID:
21460374
[PubMed - indexed for MEDLINE]
Free Article
19.

Aberrant Single Exon Skipping is not Altered by Age in Exons of NF1, RABAC1, AATF or PCGF2 in Human Blood Cells and Fibroblasts.

Mellert K, Uhl M, Högel J, Lamla M, Kemkemer R, Kaufmann D.

Genes (Basel). 2011 Aug 2;2(3):562-77. doi: 10.3390/genes2030562.

PMID:
24710210
[PubMed]
Free PMC Article
20.

Accelerated aging phenotype in mice with conditional deficiency for mitochondrial superoxide dismutase in the connective tissue.

Treiber N, Maity P, Singh K, Kohn M, Keist AF, Ferchiu F, Sante L, Frese S, Bloch W, Kreppel F, Kochanek S, Sindrilaru A, Iben S, Högel J, Ohnmacht M, Claes LE, Ignatius A, Chung JH, Lee MJ, Kamenisch Y, Berneburg M, Nikolaus T, Braunstein K, Sperfeld AD, Ludolph AC, Briviba K, Wlaschek M, Florin L, Angel P, Scharffetter-Kochanek K.

Aging Cell. 2011 Apr;10(2):239-54. doi: 10.1111/j.1474-9726.2010.00658.x. Epub 2010 Dec 29. Erratum in: Aging Cell. 2011Oct;10(5):912. Florin, Lore [added]; Angel, Peter [added].

PMID:
21108731
[PubMed - indexed for MEDLINE]
Free Article
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