Ileana Cristea

Stipendiat

Tidsskriftartikler

Bredrup, Cecilie; Stokowy, Tomasz; McGaughran, Julie; Lee, Samuel; Sapkota, Dipak; Cristea, Ileana; Xu, Linda; Tveit, Kåre Steinar; Høvding, Gunnar; Steen, Vidar Martin; Rødahl, Eyvind; Bruland, Ove; Houge, Gunnar. 2018. A tyrosine kinase-activating variant Asn666Ser in PDGFRB causes a progeria-like condition in the severe end of Penttinen syndrome. European Journal of Human Genetics. doi: 10.1038/s41431-018-0323-z
Xu, Linda Zi Yan; Jensen, Hanne; Johnston, Jennifer; Di Maria, Emilio; Kloth, Katja; Cristea-Osuagwu, Ileana; Sapp, Julie; Darling, Thomas; Huryn, Laryssa; Tranebjærg, Lisbeth; Cinotti, Elisa; Kubisch, Christian; Rødahl, Eyvind; Bruland, Ove; Biesecker, Leslie; Houge, Gunnar; Bredrup, Cecilie. 2018. Recurrent, activating variants in the receptor tyrosine kinase DDR2 cause Warburg-Cinotti syndrome. American Journal of Human Genetics. 103: 976-983. doi: 10.1016/j.ajhg.2018.10.013