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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2005 1
2006 2
2007 5
2008 1
2009 3
2010 4
2011 4
2012 3
2013 4
2014 4
2015 4
2016 2
2017 2
2018 1
2022 0
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36 results
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Page 1
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.
Jakobsen LP, Ullmann R, Christensen SB, Jensen KE, Mølsted K, Henriksen KF, Hansen C, Knudsen MA, Larsen LA, Tommerup N, Tümer Z. Jakobsen LP, et al. J Med Genet. 2007 Jun;44(6):381-6. doi: 10.1136/jmg.2006.046177. J Med Genet. 2007. PMID: 17551083 Free PMC article.
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis.
White S, Ohnesorg T, Notini A, Roeszler K, Hewitt J, Daggag H, Smith C, Turbitt E, Gustin S, van den Bergen J, Miles D, Western P, Arboleda V, Schumacher V, Gordon L, Bell K, Bengtsson H, Speed T, Hutson J, Warne G, Harley V, Koopman P, Vilain E, Sinclair A. White S, et al. PLoS One. 2011 Mar 7;6(3):e17793. doi: 10.1371/journal.pone.0017793. PLoS One. 2011. PMID: 21408189 Free PMC article.
Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.
Castori M, Bottillo I, Morlino S, Barone C, Cascone P; Pediatric Craniofacial Malformation (PECRAM) Study Group, Grammatico P, Laino L. Castori M, et al. Birth Defects Res A Clin Mol Teratol. 2016 Jan;106(1):61-8. doi: 10.1002/bdra.23463. Epub 2015 Dec 11. Birth Defects Res A Clin Mol Teratol. 2016. PMID: 26663529
36 results