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Items: 1 to 20 of 77


De novo FUS mutations are the most frequent genetic cause in early-onset German ALS patients.

Hübers A, Just W, Rosenbohm A, Müller K, Marroquin N, Goebel I, Högel J, Thiele H, Altmüller J, Nürnberg P, Weishaupt JH, Kubisch C, Ludolph AC, Volk AE.

Neurobiol Aging. 2015 Nov;36(11):3117.e1-6. doi: 10.1016/j.neurobiolaging.2015.08.005. Epub 2015 Aug 15.


POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.

Lessel D, Hisama FM, Szakszon K, Saha B, Sanjuanelo AB, Salbert BA, Steele PD, Baldwin J, Brown WT, Piussan C, Plauchu H, Szilvássy J, Horkay E, Högel J, Martin GM, Herr AJ, Oshima J, Kubisch C.

Hum Mutat. 2015 Nov;36(11):1070-9. doi: 10.1002/humu.22833. Epub 2015 Aug 6.


Bioavailability of β-cryptoxanthin is greater from pasteurized orange juice than from fresh oranges - a randomized cross-over study.

Aschoff JK, Rolke CL, Breusing N, Bosy-Westphal A, Högel J, Carle R, Schweiggert RM.

Mol Nutr Food Res. 2015 Oct;59(10):1896-904. doi: 10.1002/mnfr.201500327. Epub 2015 Jul 20.


Accuracy Evaluation of Four Blood Glucose Monitoring Systems in Unaltered Blood Samples in the Low Glycemic Range and Blood Samples in the Concentration Range Defined by ISO 15197.

Freckmann G, Pleus S, Link M, Baumstark A, Schmid C, Högel J, Haug C.

Diabetes Technol Ther. 2015 Sep;17(9):625-34. doi: 10.1089/dia.2015.0043. Epub 2015 May 19.


Normobaric Intermittent Hypoxia over 8 Months Does Not Reduce Body Weight and Metabolic Risk Factors--a Randomized, Single Blind, Placebo-Controlled Study in Normobaric Hypoxia and Normobaric Sham Hypoxia.

Gatterer H, Haacke S, Burtscher M, Faulhaber M, Melmer A, Ebenbichler C, Strohl KP, Högel J, Netzer NC.

Obes Facts. 2015;8(3):200-9. doi: 10.1159/000431157. Epub 2015 May 20.


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;167A(3):670-3. doi: 10.1002/ajmg.a.36891. No abstract available.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.


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.

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