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

Year Number of Results
1985 1
1986 1
1987 1
1988 1
1989 3
1991 1
1993 3
1994 2
1997 1
1998 2
1999 2
2000 2
2003 1
2004 2
2006 1
2008 2
2011 1
2012 4
2013 4
2014 1
2015 2
2016 5
2017 8
2018 3
2019 3
2020 3
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2022 3
2023 1

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PubMed for id: 162905

60 results

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Page 1
MED12 Mutation in Two Families with X-Linked Ohdo Syndrome.
Rocchetti L, Evangelista E, De Falco L, Savarese G, Savarese P, Ruggiero R, D'Amore L, Sensi A, Fico A. Rocchetti L, et al. Genes (Basel). 2021 Aug 27;12(9):1328. doi: 10.3390/genes12091328. Genes (Basel). 2021. PMID: 34573309 Free PMC article.
Mutations in MED12 cause X-linked Ohdo syndrome.
Vulto-van Silfhout AT, de Vries BB, van Bon BW, Hoischen A, Ruiterkamp-Versteeg M, Gilissen C, Gao F, van Zwam M, Harteveld CL, van Essen AJ, Hamel BC, Kleefstra T, Willemsen MA, Yntema HG, van Bokhoven H, Brunner HG, Boyer TG, de Brouwer AP. Vulto-van Silfhout AT, et al. Am J Hum Genet. 2013 Mar 7;92(3):401-6. doi: 10.1016/j.ajhg.2013.01.007. Epub 2013 Feb 7. Am J Hum Genet. 2013. PMID: 23395478 Free PMC article.
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome.
Clayton-Smith J, O'Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G. Clayton-Smith J, et al. Am J Hum Genet. 2011 Nov 11;89(5):675-81. doi: 10.1016/j.ajhg.2011.10.008. Am J Hum Genet. 2011. PMID: 22077973 Free PMC article.
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive.
Verloes A, Bremond-Gignac D, Isidor B, David A, Baumann C, Leroy MA, Stevens R, Gillerot Y, Héron D, Héron B, Benzacken B, Lacombe D, Brunner H, Bitoun P. Verloes A, et al. Am J Med Genet A. 2006 Jun 15;140(12):1285-96. doi: 10.1002/ajmg.a.31270. Am J Med Genet A. 2006. PMID: 16700052
60 results