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Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.
Winberg J, Gustavsson P, Papadogiannakis N, Sahlin E, Bradley F, Nordenskjöld E, Svensson PJ, Annerén G, Iwarsson E, Nordgren A, Nordenskjöld A. Winberg J, et al. Among authors: papadogiannakis n. PLoS One. 2014 Jan 9;9(1):e85313. doi: 10.1371/journal.pone.0085313. eCollection 2014. PLoS One. 2014. PMID: 24416387 Free PMC article.
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. Among authors: papadogiannakis n. 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.
Genetic Analysis of Copy Number Variation in Large Chorangiomas.
Sirotkina M, Douroudis K, Westgren M, Papadogiannakis N. Sirotkina M, et al. Among authors: papadogiannakis n. Pediatr Dev Pathol. 2019 May-Jun;22(3):236-242. doi: 10.1177/1093526618811744. Epub 2018 Nov 14. Pediatr Dev Pathol. 2019. PMID: 30428272
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.
Sahlin E, Gréen A, Gustavsson P, Liedén A, Nordenskjöld M, Papadogiannakis N, Pettersson K, Nilsson D, Jonasson J, Iwarsson E. Sahlin E, et al. Among authors: papadogiannakis n. PLoS One. 2019 Jan 7;14(1):e0210017. doi: 10.1371/journal.pone.0210017. eCollection 2019. PLoS One. 2019. PMID: 30615648 Free PMC article.
Toll-like receptor-2 expression in normal and pathologic human placenta.
Rindsjö E, Holmlund U, Sverremark-Ekström E, Papadogiannakis N, Scheynius A. Rindsjö E, et al. Among authors: papadogiannakis n. Hum Pathol. 2007 Mar;38(3):468-73. doi: 10.1016/j.humpath.2006.09.009. Epub 2007 Jan 19. Hum Pathol. 2007. PMID: 17239937
Testing strategies to reduce morbidity and mortality from Lynch syndrome.
Keränen A, Ghazi S, Carlson J, Papadogiannakis N, Lagerstedt-Robinson K, Lindblom A. Keränen A, et al. Among authors: papadogiannakis n. Scand J Gastroenterol. 2018 Dec;53(12):1535-1540. doi: 10.1080/00365521.2018.1542453. Epub 2018 Dec 20. Scand J Gastroenterol. 2018. PMID: 30572730 Free article.
Fetal calcifications are associated with chromosomal abnormalities.
Sahlin E, Sirotkina M, Marnerides A, Iwarsson E, Papadogiannakis N. Sahlin E, et al. Among authors: papadogiannakis n. PLoS One. 2015 Apr 29;10(4):e0123343. doi: 10.1371/journal.pone.0123343. eCollection 2015. PLoS One. 2015. PMID: 25923652 Free PMC article.
136 results