Search Page
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
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2012 | 2 |
2013 | 1 |
2014 | 1 |
2024 | 0 |
Search Results
3 results
Results by year
Filters applied: . Clear all
It looks like you are searching for an author.
Results are currently sorted by Best Match. To see the newest results first,
change the sort order to Most Recent.
Page 1
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.
Clin Genet. 2014 May;85(5):476-81. doi: 10.1111/cge.12198. Epub 2013 Jun 12.
Clin Genet. 2014.
PMID: 23692385
BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response.
Marion V, Mockel A, De Melo C, Obringer C, Claussmann A, Simon A, Messaddeq N, Durand M, Dupuis L, Loeffler JP, King P, Mutter-Schmidt C, Petrovsky N, Stoetzel C, Dollfus H.
Marion V, et al. Among authors: claussmann a.
Cell Metab. 2012 Sep 5;16(3):363-77. doi: 10.1016/j.cmet.2012.08.005.
Cell Metab. 2012.
PMID: 22958920
Free article.
Item in Clipboard
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.
Marion V, Stutzmann F, Gérard M, De Melo C, Schaefer E, Claussmann A, Hellé S, Delague V, Souied E, Barrey C, Verloes A, Stoetzel C, Dollfus H.
Marion V, et al. Among authors: claussmann a.
J Med Genet. 2012 May;49(5):317-21. doi: 10.1136/jmedgenet-2012-100737. Epub 2012 Apr 17.
J Med Genet. 2012.
PMID: 22510444
Item in Clipboard
Cite
Cite