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

Additional file 2 of SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients

Autor: Mouill��, M., Rio, M., Breton, S., Piketty, M. L., Afenjar, A., Amiel, J., Capri, Y., Goldenberg, A., Francannet, C., Michot, C., Mignot, C., Perrin, L., Quelin, C., Van Gils, J., Barcia, G., Pingault, V., Maruani, G., Koumakis, E., Cormier-Daire, V.

Additional file 2. Raw data and ULM values for P1NP and Osteocalcin in the 19 patients.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6897d857ea94976367c34029f95aec48

Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7

Autor: Castilla-Vallmanya L, Selmer KK, Dimartino C, Raquel Rabionet Janssen, Blanco-Sánchez B, Yang S, Reijnders MRF, van Essen AJ, Oufadem M, Vigeland MD, Stadheim B, Houge G, Cox H, Kingston H, Clayton-Smith J, Innis JW, Iascone M, Cereda A, Gabbiadini S, Chung WK, Sanders V, Charrow J, Bryant E, Millichap J, Vitobello A, Thauvin C, Mau-Them FT, Faivre L, Lesca G, Labalme A, Rougeot C, Chatron N, Sanlaville D, Christensen KM, Kirby A, Lewandowski R, Gannaway R, Aly M, Lehman A, Clarke L, Graul-Neumann L, Zweier C, Lessel D, Lozic B, Aukrust I, Peretz R, Stratton R, Smol T, Dieux-Coëslier A, Meira J, Wohler E, Sobreira N, Beaver EM, Heeley J, Briere LC, High FA, Sweetser DA, Walker MA, Keegan CE, Jayakar P, Shinawi M, Kerstjens-Frederikse WS, Earl DL, Siu VM, Reesor E, Yao T, Hegele RA, Vaske OM, Rego S, Undiagnosed Diseases Network, Care4Rare Canada Consortium, Shapiro KA, Wong B, Gambello MJ, McDonald M, Karlowicz D, Colombo R, Serretti A, Pais L, O'Donnell-Luria A, Wray A, Sadedin S, Chong B, Tan TY, Christodoulou J, White SM, Slavotinek A, Barbouth D, Morel Swols D, Parisot M, Bole-Feysot C, Nitschké P, Pingault V, Munnich A, Cho MT, Cormier-Daire V, Balcells S, Lyonnet S, Grinberg-Vaisman DR, Amiel J, Urreizti R, Gordon CT

Publikováno v: GENETICS IN MEDICINE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname

PURPOSE: Somatic variants in tumor necrosis factor receptor-associated factor 7 (TRAF7) cause meningioma, while germline variants have recently been identified in seven patients with developmental delay and cardiac, facial, and digital anomalies. We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8681f41dd6fc27fa740af813b6ca88f8
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=17718

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