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2019 1
2023 0

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PubMed for id: 1803228

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ABCC9-related Intellectual disability Myopathy Syndrome is a KATP channelopathy with loss-of-function mutations in ABCC9.
Smeland MF, McClenaghan C, Roessler HI, Savelberg S, Hansen GÅM, Hjellnes H, Arntzen KA, Müller KI, Dybesland AR, Harter T, Sala-Rabanal M, Emfinger CH, Huang Y, Singareddy SS, Gunn J, Wozniak DF, Kovacs A, Massink M, Tessadori F, Kamel SM, Bakkers J, Remedi MS, Van Ghelue M, Nichols CG, van Haaften G. Smeland MF, et al. Nat Commun. 2019 Oct 1;10(1):4457. doi: 10.1038/s41467-019-12428-7. Nat Commun. 2019. PMID: 31575858 Free PMC article.
Joubert syndrome: genotyping a Northern European patient cohort.
Kroes HY, Monroe GR, van der Zwaag B, Duran KJ, de Kovel CG, van Roosmalen MJ, Harakalova M, Nijman IJ, Kloosterman WP, Giles RH, Knoers NV, van Haaften G. Kroes HY, et al. Eur J Hum Genet. 2016 Feb;24(2):214-20. doi: 10.1038/ejhg.2015.84. Epub 2015 Apr 29. Eur J Hum Genet. 2016. PMID: 25920555 Free PMC article.
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T. Ockeloen CW, et al. Eur J Hum Genet. 2015 Sep;23(9):1176-85. doi: 10.1038/ejhg.2014.253. Epub 2014 Nov 26. Eur J Hum Genet. 2015. PMID: 25424714 Free PMC article.