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Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.
Hum Genet. 2018 Jul;137(6-7):543-552. doi: 10.1007/s00439-018-1909-9. Epub 2018 Jul 13.
Hum Genet. 2018.
PMID: 30006736
Clinical Trial.
Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.
Neuhäusler L, Summerer A, Cooper DN, Mautner VF, Kehrer-Sawatzki H.
Neuhäusler L, et al. Among authors: summerer a.
Hum Genet. 2018 May;137(5):365-373. doi: 10.1007/s00439-018-1888-x. Epub 2018 May 5.
Hum Genet. 2018.
PMID: 29730711
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Co-occurrence of schwannomatosis and rhabdoid tumor predisposition syndrome 1.
Kehrer-Sawatzki H, Kordes U, Seiffert S, Summerer A, Hagel C, Schüller U, Farschtschi S, Schneppenheim R, Bendszus M, Godel T, Mautner VF.
Kehrer-Sawatzki H, et al. Among authors: summerer a.
Mol Genet Genomic Med. 2018 May 20;6(4):627-37. doi: 10.1002/mgg3.412. Online ahead of print.
Mol Genet Genomic Med. 2018.
PMID: 29779243
Free PMC article.
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Extreme clustering of type-1 NF1 deletion breakpoints co-locating with G-quadruplex forming sequences.
Summerer A, Mautner VF, Upadhyaya M, Claes KBM, Högel J, Cooper DN, Messiaen L, Kehrer-Sawatzki H.
Summerer A, et al.
Hum Genet. 2018 Jul;137(6-7):511-520. doi: 10.1007/s00439-018-1904-1. Epub 2018 Jul 10.
Hum Genet. 2018.
PMID: 29992513
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Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.
Summerer A, Schäfer E, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H.
Summerer A, et al.
Hum Genet. 2019 Jan;138(1):73-81. doi: 10.1007/s00439-018-1961-5. Epub 2018 Nov 26.
Hum Genet. 2019.
PMID: 30478644
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Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions.
Hillmer M, Wagner D, Summerer A, Daiber M, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H.
Hillmer M, et al. Among authors: summerer a.
Hum Mol Genet. 2016 Feb 1;25(3):484-96. doi: 10.1093/hmg/ddv487. Epub 2015 Nov 27.
Hum Mol Genet. 2016.
PMID: 26614388
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Consideration of the haplotype diversity at nonallelic homologous recombination hotspots improves the precision of rearrangement breakpoint identification.
Hillmer M, Summerer A, Mautner VF, Högel J, Cooper DN, Kehrer-Sawatzki H.
Hillmer M, et al. Among authors: summerer a.
Hum Mutat. 2017 Dec;38(12):1711-1722. doi: 10.1002/humu.23319. Epub 2017 Sep 22.
Hum Mutat. 2017.
PMID: 28862369
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Nuclear import factor transportin and arginine methyltransferase 1 modify FUS neurotoxicity in Drosophila.
Jäckel S, Summerer AK, Thömmes CM, Pan X, Voigt A, Schulz JB, Rasse TM, Dormann D, Haass C, Kahle PJ.
Jäckel S, et al. Among authors: summerer ak.
Neurobiol Dis. 2015 Feb;74:76-88. doi: 10.1016/j.nbd.2014.11.003. Epub 2014 Nov 8.
Neurobiol Dis. 2015.
PMID: 25447237
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