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Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.
Lindstrand A, Grigelioniene G, Nilsson D, Pettersson M, Hofmeister W, Anderlid BM, Kant SG, Ruivenkamp CA, Gustavsson P, Valta H, Geiberger S, Topa A, Lagerstedt-Robinson K, Taylan F, Wincent J, Laurell T, Pekkinen M, Nordenskjöld M, Mäkitie O, Nordgren A. Lindstrand A, et al. J Med Genet. 2014 Jan;51(1):45-54. doi: 10.1136/jmedgenet-2013-101937. Epub 2013 Nov 7. J Med Genet. 2014. PMID: 24203977
Partial tetrasomy 14 associated with multiple malformations.
Winberg J, Lagerstedt Robinson K, Naess K, Lesko N, Wibom R, Liedén A, Anderlid BM, Graff C, Nordenskjöld A, Nordgren A, Gustavsson P. Winberg J, et al. Am J Med Genet A. 2013 Jun;161A(6):1284-90. doi: 10.1002/ajmg.a.35887. Epub 2013 Apr 23. Am J Med Genet A. 2013. PMID: 23613323
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
Tham E, Eklund EA, Hammarsjö A, Bengtson P, Geiberger S, Lagerstedt-Robinson K, Malmgren H, Nilsson D, Grigelionis G, Conner P, Lindgren P, Lindstrand A, Wedell A, Albåge M, Zielinska K, Nordgren A, Papadogiannakis N, Nishimura G, Grigelioniene G. Tham E, et al. Eur J Hum Genet. 2016 Feb;24(2):198-207. doi: 10.1038/ejhg.2015.91. Epub 2015 May 13. Eur J Hum Genet. 2016. PMID: 25966638 Free PMC article.
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis.
Tesi B, Lagerstedt-Robinson K, Chiang SC, Ben Bdira E, Abboud M, Belen B, Devecioglu O, Fadoo Z, Yeoh AE, Erichsen HC, Möttönen M, Akar HH, Hästbacka J, Kaya Z, Nunes S, Patiroglu T, Sabel M, Saribeyoglu ET, Tvedt TH, Unal E, Unal S, Unuvar A, Meeths M, Henter JI, Nordenskjöld M, Bryceson YT. Tesi B, et al. Genome Med. 2015 Dec 18;7:130. doi: 10.1186/s13073-015-0244-1. Genome Med. 2015. PMID: 26684649 Free PMC article.
60 results