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Items: 1 to 20 of 118

1.

Consideration of the haplotype diversity at nonallelic homologous recombination (NAHR) hotspots improves the precision of rearrangement breakpoint identification.

Hillmer M, Summerer A, Mautner VF, Högel J, Cooper DN, Kehrer-Sawatzki H.

Hum Mutat. 2017 Sep 1. doi: 10.1002/humu.23319. [Epub ahead of print]

PMID:
28862369
2.

Emerging genotype-phenotype relationships in patients with large NF1 deletions.

Kehrer-Sawatzki H, Mautner VF, Cooper DN.

Hum Genet. 2017 Apr;136(4):349-376. doi: 10.1007/s00439-017-1766-y. Epub 2017 Feb 17. Review.

3.

The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis.

Kehrer-Sawatzki H, Farschtschi S, Mautner VF, Cooper DN.

Hum Genet. 2017 Feb;136(2):129-148. doi: 10.1007/s00439-016-1753-8. Epub 2016 Dec 5. Review.

4.

Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.

Farschtschi S, Mautner VF, Pham M, Nguyen R, Kehrer-Sawatzki H, Hutter S, Friedrich RE, Schulz A, Morrison H, Jones DT, Bendszus M, Bäumer P.

Ann Neurol. 2016 Oct;80(4):625-8. doi: 10.1002/ana.24753. Epub 2016 Aug 13.

PMID:
27472264
5.

No correlation between NF1 mutation position and risk of optic pathway glioma in 77 unrelated NF1 patients.

Hutter S, Piro RM, Waszak SM, Kehrer-Sawatzki H, Friedrich RE, Lassaletta A, Witt O, Korbel JO, Lichter P, Schuhmann MU, Pfister SM, Tabori U, Mautner VF, Jones DT.

Hum Genet. 2016 May;135(5):469-75. doi: 10.1007/s00439-016-1646-x. Epub 2016 Mar 11.

PMID:
26969325
6.

Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement.

Spielmann M, Marx S, Barbi G, Flöttmann R, Kehrer-Sawatzki H, König R, Horn D, Mundlos S, Nader S, Borck G.

Am J Med Genet A. 2016 May;170A(5):1202-7. doi: 10.1002/ajmg.a.37560. Epub 2016 Jan 29.

PMID:
26822876
7.

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.

Hum Mol Genet. 2016 Feb 1;25(3):484-96. doi: 10.1093/hmg/ddv487. Epub 2015 Nov 27.

PMID:
26614388
8.

Neurofibromatosis Type 1 Without Neurofibromas: Genotype-Phenotype Correlations in NF1.

Kehrer-Sawatzki H.

Hum Mutat. 2015 Nov;36(11):v. doi: 10.1002/humu.22669. No abstract available.

PMID:
26457592
9.

Growth in neurofibromatosis 1 microdeletion patients.

Ning X, Farschtschi S, Jones A, Kehrer-Sawatzki H, Mautner VF, Friedman JM.

Clin Genet. 2016 Mar;89(3):351-4. doi: 10.1111/cge.12632. Epub 2015 Jul 22.

PMID:
26111455
10.

Determination of the mutant allele frequency in patients with neurofibromatosis type 2 and somatic mosaicism by means of deep sequencing.

Spyra M, Otto B, Schön G, Kehrer-Sawatzki H, Mautner VF.

Genes Chromosomes Cancer. 2015 May 29. doi: 10.1002/gcc.22259. [Epub ahead of print]

PMID:
26031996
11.

Identification of large NF1 duplications reciprocal to NAHR-mediated type-1 NF1 deletions.

Kehrer-Sawatzki H, Bengesser K, Callens T, Mikhail F, Fu C, Hillmer M, Walker ME, Saal HM, Lacassie Y, Cooper DN, Messiaen L.

Hum Mutat. 2014 Dec;35(12):1469-75. doi: 10.1002/humu.22692.

PMID:
25205021
12.

PRC2 loss amplifies Ras-driven transcription and confers sensitivity to BRD4-based therapies.

De Raedt T, Beert E, Pasmant E, Luscan A, Brems H, Ortonne N, Helin K, Hornick JL, Mautner V, Kehrer-Sawatzki H, Clapp W, Bradner J, Vidaud M, Upadhyaya M, Legius E, Cichowski K.

Nature. 2014 Oct 9;514(7521):247-51. doi: 10.1038/nature13561. Epub 2014 Aug 13.

PMID:
25119042
13.

Whole exome sequencing reveals that the majority of schwannomatosis cases remain unexplained after excluding SMARCB1 and LZTR1 germline variants.

Hutter S, Piro RM, Reuss DE, Hovestadt V, Sahm F, Farschtschi S, Kehrer-Sawatzki H, Wolf S, Lichter P, von Deimling A, Schuhmann MU, Pfister SM, Jones DT, Mautner VF.

Acta Neuropathol. 2014 Sep;128(3):449-52. doi: 10.1007/s00401-014-1311-1. Epub 2014 Jul 10. No abstract available.

PMID:
25008767
14.

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.

15.

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
16.

Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination.

Bengesser K, Vogt J, Mussotter T, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H.

Hum Mutat. 2014 Feb;35(2):215-26. doi: 10.1002/humu.22473. Epub 2013 Dec 2.

PMID:
24186807
17.

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Cooper DN, Krawczak M, Polychronakos C, Tyler-Smith C, Kehrer-Sawatzki H.

Hum Genet. 2013 Oct;132(10):1077-130. doi: 10.1007/s00439-013-1331-2. Epub 2013 Jul 3. Review.

18.

Cardiac characterization of 16 patients with large NF1 gene deletions.

Nguyen R, Mir TS, Kluwe L, Jett K, Kentsch M, Mueller G, Kehrer-Sawatzki H, Friedman JM, Mautner VF.

Clin Genet. 2013 Oct;84(4):344-9. doi: 10.1111/cge.12072. Epub 2012 Dec 28.

PMID:
23278345
19.

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.

20.

Evolutionary history and genome organization of DUF1220 protein domains.

O'Bleness MS, Dickens CM, Dumas LJ, Kehrer-Sawatzki H, Wyckoff GJ, Sikela JM.

G3 (Bethesda). 2012 Sep;2(9):977-86. doi: 10.1534/g3.112.003061. Epub 2012 Sep 1.

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