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Page 1
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Makrythanasis P, van Bon BW, Steehouwer M, Rodríguez-Santiago B, Simpson M, Dias P, Anderlid BM, Arts P, Bhat M, Augello B, Biamino E, Bongers EM, Del Campo M, Cordeiro I, Cueto-González AM, Cuscó I, Deshpande C, Frysira E, Izatt L, Flores R, Galán E, Gener B, Gilissen C, Granneman SM, Hoyer J, Yntema HG, Kets CM, Koolen DA, Marcelis Cl, Medeira A, Micale L, Mohammed S, de Munnik SA, Nordgren A, Psoni S, Reardon W, Revencu N, Roscioli T, Ruiterkamp-Versteeg M, Santos HG, Schoumans J, Schuurs-Hoeijmakers JH, Silengo MC, Toledo L, Vendrell T, van der Burgt I, van Lier B, Zweier C, Reymond A, Trembath RC, Perez-Jurado L, Dupont J, de Vries BB, Brunner HG, Veltman JA, Merla G, Antonarakis SE, Hoischen A. Makrythanasis P, et al. Among authors: antonarakis se. Clin Genet. 2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26. Clin Genet. 2013. PMID: 23320472
Pathogenic variants in non-protein-coding sequences.
Makrythanasis P, Antonarakis SE. Makrythanasis P, et al. Among authors: antonarakis se. Clin Genet. 2013 Nov;84(5):422-8. doi: 10.1111/cge.12272. Epub 2013 Sep 23. Clin Genet. 2013. PMID: 24007299 Review.
High-throughput sequencing and rare genetic diseases.
Makrythanasis P, Antonarakis SE. Makrythanasis P, et al. Among authors: antonarakis se. Mol Syndromol. 2012 Nov;3(5):197-203. doi: 10.1159/000343941. Epub 2012 Nov 9. Mol Syndromol. 2012. PMID: 23293577 Free PMC article.
Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders.
Fokstuen S, Makrythanasis P, Nikolaev S, Santoni F, Robyr D, Munoz A, Bevillard J, Farinelli L, Iseli C, Antonarakis SE, Blouin JL. Fokstuen S, et al. Among authors: antonarakis se. Clin Genet. 2014 Apr;85(4):365-70. doi: 10.1111/cge.12168. Epub 2013 May 13. Clin Genet. 2014. PMID: 23590259
Detection of aneuploidies by paralogous sequence quantification.
Deutsch S, Choudhury U, Merla G, Howald C, Sylvan A, Antonarakis SE. Deutsch S, et al. Among authors: antonarakis se. J Med Genet. 2004 Dec;41(12):908-15. doi: 10.1136/jmg.2004.023184. J Med Genet. 2004. PMID: 15591276 Free PMC article.
Chromosome 21 and Down syndrome: the post-sequence era.
Antonarakis SE, Reymond A, Lyle R, Deutsch S, Dermitzakis ET. Antonarakis SE, et al. Cold Spring Harb Symp Quant Biol. 2003;68:425-30. doi: 10.1101/sqb.2003.68.425. Cold Spring Harb Symp Quant Biol. 2003. PMID: 15338645 No abstract available.
Two high throughput technologies to detect segmental aneuploidies identify new Williams-Beuren syndrome patients with atypical deletions.
Howald C, Merla G, Digilio MC, Amenta S, Lyle R, Deutsch S, Choudhury U, Bottani A, Antonarakis SE, Fryssira H, Dallapiccola B, Reymond A. Howald C, et al. Among authors: antonarakis se. J Med Genet. 2006 Mar;43(3):266-73. doi: 10.1136/jmg.2005.034009. Epub 2005 Jul 1. J Med Genet. 2006. PMID: 15994861 Free PMC article.
The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations.
Radhakrishna U, Bornholdt D, Scott HS, Patel UC, Rossier C, Engel H, Bottani A, Chandal D, Blouin JL, Solanki JV, Grzeschik KH, Antonarakis SE. Radhakrishna U, et al. Among authors: antonarakis se. Am J Hum Genet. 1999 Sep;65(3):645-55. doi: 10.1086/302557. Am J Hum Genet. 1999. PMID: 10441570 Free PMC article.
657 results