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 |
---|---|
2009 | 2 |
2014 | 1 |
2015 | 1 |
2024 | 0 |
PubMed for id: 108021840
4 results
Results by year
Filters applied: . Clear all
Page 1
A de novo 1.58 Mb deletion, including MAP2K6 and mapping 1.28 Mb upstream to SOX9, identified in a patient with Pierre Robin sequence and osteopenia with multiple fractures.
Am J Med Genet A. 2015 Aug;167A(8):1842-50. doi: 10.1002/ajmg.a.37057. Epub 2015 Jun 8.
Am J Med Genet A. 2015.
PMID: 26059046
Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.
Gordon CT, Attanasio C, Bhatia S, Benko S, Ansari M, Tan TY, Munnich A, Pennacchio LA, Abadie V, Temple IK, Goldenberg A, van Heyningen V, Amiel J, FitzPatrick D, Kleinjan DA, Visel A, Lyonnet S.
Gordon CT, et al.
Hum Mutat. 2014 Aug;35(8):1011-20. doi: 10.1002/humu.22606.
Hum Mutat. 2014.
PMID: 24934569
Free PMC article.
Item in Clipboard
Long-range regulation at the SOX9 locus in development and disease.
Gordon CT, Tan TY, Benko S, Fitzpatrick D, Lyonnet S, Farlie PG.
Gordon CT, et al.
J Med Genet. 2009 Oct;46(10):649-56. doi: 10.1136/jmg.2009.068361. Epub 2009 May 26.
J Med Genet. 2009.
PMID: 19473998
Review.
Item in Clipboard
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S.
Benko S, et al.
Nat Genet. 2009 Mar;41(3):359-64. doi: 10.1038/ng.329. Epub 2009 Feb 22.
Nat Genet. 2009.
PMID: 19234473
Item in Clipboard
Cite
Cite