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Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
Sobering AK, Bryant LM, Li D, McGaughran J, Maystadt I, Moortgat S, Graham JM Jr, van Haeringen A, Ruivenkamp C, Cuperus R, Vogt J, Morton J, Brasch-Andersen C, Steenhof M, Hansen LK, Adler É, Lyonnet S, Pingault V, Sandrine M, Ziegler A, Donald T, Nelson B, Holt B, Petryna O, Firth H, McWalter K, Zyskind J, Telegrafi A, Juusola J, Person R, Bamshad MJ, Earl D; University of Washington Center for Mendelian Genomics; Tsai AC, Yearwood KR, Marco E, Nowak C, Douglas J, Hakonarson H, Bhoj EJ. Sobering AK, et al. Among authors: maystadt i. HGG Adv. 2022 Mar 26;3(3):100102. doi: 10.1016/j.xhgg.2022.100102. eCollection 2022 Jul 14. HGG Adv. 2022. PMID: 35469323 Free PMC article.
Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1-q25.32: Genotype-phenotype correlations of chromosome 3q25 deletion syndrome.
Moortgat S, Verellen-Dumoulin C, Maystadt I, Parmentier B, Grisart B, Hennecker JL, Destree A. Moortgat S, et al. Among authors: maystadt i. Eur J Med Genet. 2011 Mar-Apr;54(2):177-80. doi: 10.1016/j.ejmg.2010.11.011. Epub 2010 Dec 15. Eur J Med Genet. 2011. PMID: 21167329
HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients.
Moortgat S, Berland S, Aukrust I, Maystadt I, Baker L, Benoit V, Caro-Llopis A, Cooper NS, Debray FG, Faivre L, Gardeitchik T, Haukanes BI, Houge G, Kivuva E, Martinez F, Mehta SG, Nassogne MC, Powell-Hamilton N, Pfundt R, Rosello M, Prescott T, Vasudevan P, van Loon B, Verellen-Dumoulin C, Verloes A, Lippe CV, Wakeling E, Wilkie AOM, Wilson L, Yuen A, Study D, Low KJ, Newbury-Ecob RA. Moortgat S, et al. Among authors: maystadt i. Eur J Hum Genet. 2018 Jan;26(1):64-74. doi: 10.1038/s41431-017-0038-6. Epub 2017 Nov 27. Eur J Hum Genet. 2018. PMID: 29180823 Free PMC article.
Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia.
Moortgat S, Lederer D, Deprez M, Buzatu M, Clapuyt P, Boulanger S, Benoit V, Mary S, Guichet A, Ziegler A, Colin E, Bonneau D, Maystadt I. Moortgat S, et al. Among authors: maystadt i. Eur J Med Genet. 2018 Aug;61(8):442-450. doi: 10.1016/j.ejmg.2018.03.002. Epub 2018 Mar 3. Eur J Med Genet. 2018. PMID: 29510240 Review.
A second case of Okamoto syndrome caused by HNRNPK mutation.
Maystadt I, Deprez M, Moortgat S, Benoît V, Karadurmus D. Maystadt I, et al. Am J Med Genet A. 2020 Jun;182(6):1537-1539. doi: 10.1002/ajmg.a.61568. Epub 2020 Mar 28. Am J Med Genet A. 2020. PMID: 32222014 No abstract available.
A Case Series of Familial ARID1B Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.
van der Sluijs PJ, Alders M, Dingemans AJM, Parbhoo K, van Bon BW, Dempsey JC, Doherty D, den Dunnen JT, Gerkes EH, Milller IM, Moortgat S, Regier DS, Ruivenkamp CAL, Schmalz B, Smol T, Stuurman KE, Vincent-Delorme C, de Vries BBA, Sadikovic B, Hickey SE, Rosenfeld JA, Maystadt I, Santen GWE. van der Sluijs PJ, et al. Among authors: maystadt i. Genes (Basel). 2021 Aug 20;12(8):1275. doi: 10.3390/genes12081275. Genes (Basel). 2021. PMID: 34440449 Free PMC article.
79 results