Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology

Autor: Sobering, A.K., Bryant, L.M., Li, D., McGaughran, J., Maystadt, I., Moortgat, S., Graham, J.M., Haeringen, A. van, Ruivenkamp, C., Cuperus, R., Vogt, J., Morton, J., Brasch-Andersen, C., Steenhof, M., Hansen, L.K., Adler, E., 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, M.J., Earl, D., Tsai, A.C.H., Yearwood, K.R., Marco, E., Nowak, C., Douglas, J., Hakonarson, H., Bhoj, E.J., Univ Washington Ctr Mendelian Geno

Publikováno v: Human Genetics and Genomics Advances, 3(3). ELSEVIER
Sobering, A K, Bryant, L M, Li, D, McGaughran, J, Maystadt, I, Moortgat, S, Graham, J M, van Haeringen, A, Ruivenkamp, C, Cuperus, R, Vogt, J, Morton, J, Brasch-Andersen, C, Steenhof, M, Hansen, L K, 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, M J, Earl, D, Tsai, A C H, Yearwood, K R, Marco, E, Nowak, C, Douglas, J, Hakonarson, H, Bhoj, E J & University of Washington Center for Mendelian Genomics 2022, ' Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology ', Human Genetics and Genomics Advances, vol. 3, no. 3, 100102 . https://doi.org/10.1016/j.xhgg.2022.100102

Loss-of-function variants in PHD Finger Protein 8 (PHF8) cause Siderius X-linked intellectual disability (ID) syndrome, hereafter called PHF8-XLID. PHF8 is a histone demethylase that is important for epigenetic regulation of gene expression. PHF8-XLI

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56c0c2f4bddb24a1f74df42714cfbbe1
https://hdl.handle.net/1887/3561451

Age of onset of systemic lupus erythematosus in children in an international cohort

Autor: Moorthy, L N, Appenzeller, S, Cuttica, R, Peterson , MGE, Hasset, A, Verma, S, Roy, E, Petryna, O, Herlin, Troels, Weiss, E, Lehman, TJA

Publikováno v: Moorthy, L N, Appenzeller, S, Cuttica, R, Peterson, MGE, Hasset, A, Verma, S, Roy, E, Petryna, O, Herlin, T, Weiss, E & Lehman, TJA 2013, ' Age of onset of systemic lupus erythematosus in children in an international cohort. ', The 10th International Congress on SLE, Lupus 2013, Buenos Aires, Argentina, 18/04/2013-21/04/2013 .

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pure_au_____::bad2a0c3dca96917e06184b92ee8d868
https://pure.au.dk/portal/da/publications/age-of-onset-of-systemic-lupus-erythematosus-in-children-in-an-international-cohort(06855e80-aaff-43f6-ba7a-f454fa433a05).html

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