Roehl AC - Search Results

Save citations to file

Email citations

Your saved search

Your RSS Feed

Page 1

Extended runs of homozygosity at 17q11.2: an association with type-2 NF1 deletions?

Roehl AC, Cooper DN, Kluwe L, Helbrich A, Wimmer K, Högel J, Mautner VF, Kehrer-Sawatzki H. Roehl AC, et al. Hum Mutat. 2010 Mar;31(3):325-34. doi: 10.1002/humu.21191. Hum Mutat. 2010. PMID: 20052761

Clinical characterisation of 29 neurofibromatosis type-1 patients with molecularly ascertained 1.4 Mb type-1 NF1 deletions.

Mautner VF, Kluwe L, Friedrich RE, Roehl AC, Bammert S, Högel J, Spöri H, Cooper DN, Kehrer-Sawatzki H. Mautner VF, et al. Among authors: roehl ac. J Med Genet. 2010 Sep;47(9):623-30. doi: 10.1136/jmg.2009.075937. Epub 2010 Jun 12. J Med Genet. 2010. PMID: 20543202

Intrachromosomal mitotic nonallelic homologous recombination is the major molecular mechanism underlying type-2 NF1 deletions.

Roehl AC, Vogt J, Mussotter T, Zickler AN, Spöti H, Högel J, Chuzhanova NA, Wimmer K, Kluwe L, Mautner VF, Cooper DN, Kehrer-Sawatzki H. Roehl AC, et al. Hum Mutat. 2010 Oct;31(10):1163-73. doi: 10.1002/humu.21340. Hum Mutat. 2010. PMID: 20725927

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. Zickler AM, et al. Among authors: roehl ac. Hum Mutat. 2012 Feb;33(2):372-83. doi: 10.1002/humu.21644. Epub 2011 Dec 9. Hum Mutat. 2012. PMID: 22045503

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. Roehl AC, et al. Hum Mutat. 2012 Mar;33(3):541-50. doi: 10.1002/humu.22013. Epub 2012 Jan 23. Hum Mutat. 2012. PMID: 22190464

Delineation of the clinical phenotype associated with non-mosaic type-2 NF1 deletions: two case reports.

Vogt J, Nguyen R, Kluwe L, Schuhmann M, Roehl AC, Mußotter T, Cooper DN, Mautner VF, Kehrer-Sawatzki H. Vogt J, et al. Among authors: roehl ac. J Med Case Rep. 2011 Dec 12;5:577. doi: 10.1186/1752-1947-5-577. J Med Case Rep. 2011. PMID: 22151963 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

6 results

Search Page

Filters