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Clinical utility gene card for: 3-M syndrome - update 2013.
Holder-Espinasse M, Irving M, Cormier-Daire V. Holder-Espinasse M, et al. Eur J Hum Genet. 2014 Apr;22(4). doi: 10.1038/ejhg.2013.156. Epub 2013 Jul 31. Eur J Hum Genet. 2014. PMID: 23900270 Free PMC article. No abstract available.
Clinical utility gene card for: 3M syndrome.
Holder-Espinasse M, Irving M, Cormier-Daire V. Holder-Espinasse M, et al. Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.32. Epub 2011 Mar 2. Eur J Hum Genet. 2011. PMID: 21364696 Free PMC article. No abstract available.
De novo mutations in MLL cause Wiedemann-Steiner syndrome.
Jones WD, Dafou D, McEntagart M, Woollard WJ, Elmslie FV, Holder-Espinasse M, Irving M, Saggar AK, Smithson S, Trembath RC, Deshpande C, Simpson MA. Jones WD, et al. Am J Hum Genet. 2012 Aug 10;91(2):358-64. doi: 10.1016/j.ajhg.2012.06.008. Epub 2012 Jul 12. Am J Hum Genet. 2012. PMID: 22795537 Free PMC article.
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Lloyd Holder J Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study; Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Genome Med. 2019 Mar 25;11(1):16. doi: 10.1186/s13073-019-0630-1. Genome Med. 2019. PMID: 30909959 Free PMC article.
115 results