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

Year Number of Results
1993 1
1995 1
1996 2
1997 1
1998 2
1999 1
2000 1
2001 1
2002 6
2003 3
2004 3
2005 3
2006 3
2007 2
2008 3
2009 5
2010 6
2011 5
2012 7
2013 5
2014 8
2015 7
2016 2
2017 4
2018 8
2019 7
2020 3
2021 7
2022 2
2023 1
2024 0

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Similar articles for PMID: 31391415

99 results

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Page 1
Shprintzen-Goldberg Syndrome: A Rare Disorder.
Bari A, Sadaqat N, Nawaz N, Bano I. Bari A, et al. J Coll Physicians Surg Pak. 2019 Jun;29(6):S41-S42. doi: 10.29271/jcpsp.2019.06.S41. J Coll Physicians Surg Pak. 2019. PMID: 31142417
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Carmignac V, Thevenon J, Adès L, Callewaert B, Julia S, Thauvin-Robinet C, Gueneau L, Courcet JB, Lopez E, Holman K, Renard M, Plauchu H, Plessis G, De Backer J, Child A, Arno G, Duplomb L, Callier P, Aral B, Vabres P, Gigot N, Arbustini E, Grasso M, Robinson PN, Goizet C, Baumann C, Di Rocco M, Sanchez Del Pozo J, Huet F, Jondeau G, Collod-Beroud G, Beroud C, Amiel J, Cormier-Daire V, Rivière JB, Boileau C, De Paepe A, Faivre L. Carmignac V, et al. Am J Hum Genet. 2012 Nov 2;91(5):950-7. doi: 10.1016/j.ajhg.2012.10.002. Epub 2012 Oct 25. Am J Hum Genet. 2012. PMID: 23103230 Free PMC article.
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
Doyle AJ, Doyle JJ, Bessling SL, Maragh S, Lindsay ME, Schepers D, Gillis E, Mortier G, Homfray T, Sauls K, Norris RA, Huso ND, Leahy D, Mohr DW, Caulfield MJ, Scott AF, Destrée A, Hennekam RC, Arn PH, Curry CJ, Van Laer L, McCallion AS, Loeys BL, Dietz HC. Doyle AJ, et al. Nat Genet. 2012 Nov;44(11):1249-54. doi: 10.1038/ng.2421. Epub 2012 Sep 30. Nat Genet. 2012. PMID: 23023332 Free PMC article.
99 results