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 |
---|---|
2005 | 1 |
2009 | 2 |
2010 | 1 |
2011 | 1 |
2024 | 0 |
Search Results
5 results
Results by year
Filters applied: . Clear all
Page 1
Identification of mutations in CUL7 in 3-M syndrome.
Nat Genet. 2005 Oct;37(10):1119-24. doi: 10.1038/ng1628. Epub 2005 Sep 4.
Nat Genet. 2005.
PMID: 16142236
Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene.
Twigg SR, Versnel SL, Nürnberg G, Lees MM, Bhat M, Hammond P, Hennekam RC, Hoogeboom AJ, Hurst JA, Johnson D, Robinson AA, Scambler PJ, Gerrelli D, Nürnberg P, Mathijssen IM, Wilkie AO.
Twigg SR, et al.
Am J Hum Genet. 2009 May;84(5):698-705. doi: 10.1016/j.ajhg.2009.04.009. Epub 2009 Apr 30.
Am J Hum Genet. 2009.
PMID: 19409524
Free PMC article.
Item in Clipboard
LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome.
Li Y, Pawlik B, Elcioglu N, Aglan M, Kayserili H, Yigit G, Percin F, Goodman F, Nürnberg G, Cenani A, Urquhart J, Chung BD, Ismail S, Amr K, Aslanger AD, Becker C, Netzer C, Scambler P, Eyaid W, Hamamy H, Clayton-Smith J, Hennekam R, Nürnberg P, Herz J, Temtamy SA, Wollnik B.
Li Y, et al.
Am J Hum Genet. 2010 May 14;86(5):696-706. doi: 10.1016/j.ajhg.2010.03.004. Epub 2010 Apr 8.
Am J Hum Genet. 2010.
PMID: 20381006
Free PMC article.
Item in Clipboard
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1.
Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE.
Hanson D, et al.
Am J Hum Genet. 2009 Jun;84(6):801-6. doi: 10.1016/j.ajhg.2009.04.021. Epub 2009 May 28.
Am J Hum Genet. 2009.
PMID: 19481195
Free PMC article.
Item in Clipboard
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Davis EE, Zhang Q, Liu Q, Diplas BH, Davey LM, Hartley J, Stoetzel C, Szymanska K, Ramaswami G, Logan CV, Muzny DM, Young AC, Wheeler DA, Cruz P, Morgan M, Lewis LR, Cherukuri P, Maskeri B, Hansen NF, Mullikin JC, Blakesley RW, Bouffard GG; NISC Comparative Sequencing Program; Gyapay G, Rieger S, Tönshoff B, Kern I, Soliman NA, Neuhaus TJ, Swoboda KJ, Kayserili H, Gallagher TE, Lewis RA, Bergmann C, Otto EA, Saunier S, Scambler PJ, Beales PL, Gleeson JG, Maher ER, Attié-Bitach T, Dollfus H, Johnson CA, Green ED, Gibbs RA, Hildebrandt F, Pierce EA, Katsanis N.
Davis EE, et al.
Nat Genet. 2011 Mar;43(3):189-96. doi: 10.1038/ng.756. Epub 2011 Jan 23.
Nat Genet. 2011.
PMID: 21258341
Free PMC article.
Item in Clipboard
Cite
Cite