Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Filters

My NCBI Filters

Results by year

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

Year Number of Results
1993 1
1999 1
2000 4
2001 3
2002 2
2003 2
2004 1
2005 3
2007 5
2008 3
2009 5
2010 4
2011 8
2012 11
2013 13
2014 17
2015 17
2016 13
2017 15
2018 12
2019 7
2020 24
2021 24
2022 21
2023 9
2024 0

Text availability

Article attribute

Article type

Publication date

Similar articles for PMID: 25817016

190 results

Results by year

Filters applied: . Clear all
Page 1
DVL1 frameshift mutations clustering in the penultimate exon cause autosomal-dominant Robinow syndrome.
White J, Mazzeu JF, Hoischen A, Jhangiani SN, Gambin T, Alcino MC, Penney S, Saraiva JM, Hove H, Skovby F, Kayserili H, Estrella E, Vulto-van Silfhout AT, Steehouwer M, Muzny DM, Sutton VR, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; Lupski JR, Brunner HG, van Bon BW, Carvalho CM. White J, et al. Am J Hum Genet. 2015 Apr 2;96(4):612-22. doi: 10.1016/j.ajhg.2015.02.015. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817016 Free PMC article.
DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.
White JJ, Mazzeu JF, Hoischen A, Bayram Y, Withers M, Gezdirici A, Kimonis V, Steehouwer M, Jhangiani SN, Muzny DM, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; van Bon BWM, Sutton VR, Lupski JR, Brunner HG, Carvalho CMB. White JJ, et al. Am J Hum Genet. 2016 Mar 3;98(3):553-561. doi: 10.1016/j.ajhg.2016.01.005. Epub 2016 Feb 25. Am J Hum Genet. 2016. PMID: 26924530 Free PMC article.
Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.
Bunn KJ, Daniel P, Rösken HS, O'Neill AC, Cameron-Christie SR, Morgan T, Brunner HG, Lai A, Kunst HP, Markie DM, Robertson SP. Bunn KJ, et al. Am J Hum Genet. 2015 Apr 2;96(4):623-30. doi: 10.1016/j.ajhg.2015.02.010. Epub 2015 Mar 26. Am J Hum Genet. 2015. PMID: 25817014 Free PMC article.
WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
White JJ, Mazzeu JF, Coban-Akdemir Z, Bayram Y, Bahrambeigi V, Hoischen A, van Bon BWM, Gezdirici A, Gulec EY, Ramond F, Touraine R, Thevenon J, Shinawi M, Beaver E, Heeley J, Hoover-Fong J, Durmaz CD, Karabulut HG, Marzioglu-Ozdemir E, Cayir A, Duz MB, Seven M, Price S, Ferreira BM, Vianna-Morgante AM, Ellard S, Parrish A, Stals K, Flores-Daboub J, Jhangiani SN, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics; Brunner HG, Sutton VR, Lupski JR, Carvalho CMB. White JJ, et al. Am J Hum Genet. 2018 Jan 4;102(1):27-43. doi: 10.1016/j.ajhg.2017.10.002. Epub 2017 Dec 21. Am J Hum Genet. 2018. PMID: 29276006 Free PMC article.
Whole genome variant association across 100 dogs identifies a frame shift mutation in DISHEVELLED 2 which contributes to Robinow-like syndrome in Bulldogs and related screw tail dog breeds.
Mansour TA, Lucot K, Konopelski SE, Dickinson PJ, Sturges BK, Vernau KL, Choi S, Stern JA, Thomasy SM, Döring S, Verstraete FJM, Johnson EG, York D, Rebhun RB, Ho HH, Brown CT, Bannasch DL. Mansour TA, et al. PLoS Genet. 2018 Dec 6;14(12):e1007850. doi: 10.1371/journal.pgen.1007850. eCollection 2018 Dec. PLoS Genet. 2018. PMID: 30521570 Free PMC article.
190 results