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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: rosello m. 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.
A subtelomeric translocation apparently implied in multiple abortions.
Monfort S, Martínez F, Roselló M, Badia L, Prieto F, Orellana C. Monfort S, et al. Among authors: rosello m. J Assist Reprod Genet. 2006 Feb;23(2):97-101. doi: 10.1007/s10815-006-9033-5. Epub 2006 Apr 5. J Assist Reprod Genet. 2006. PMID: 16596466 Free PMC article.
Prenatal study of common submicroscopic "genomic disorders" using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester.
Roselló M, Ferrer-Bolufer I, Monfort S, Oltra S, Quiroga R, Martínez F, Gonzalvo M, Benac A, Perales A, Orellana C. Roselló M, et al. Eur J Med Genet. 2010 Mar-Apr;53(2):76-9. doi: 10.1016/j.ejmg.2009.12.003. Epub 2009 Dec 29. Eur J Med Genet. 2010. PMID: 20004752
Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.
Ferrer-Bolufer I, Dalmau J, Quiroga R, Oltra S, Orellana C, Monfort S, Roselló M, De La Osa A, Martinez F. Ferrer-Bolufer I, et al. Among authors: rosello m. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S349-53. doi: 10.1007/s10545-009-9014-9. Epub 2009 Dec 23. J Inherit Metab Dis. 2009. PMID: 20033293 Review.
130 results