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Chimerism resulting from parthenogenetic activation and dispermic fertilization.
Winberg J, Gustavsson P, Lagerstedt-Robinson K, Blennow E, Lundin J, Iwarsson E, Nordenström A, Anderlid BM, Bondeson ML, Nordenskjöld A, Nordgren A. Winberg J, et al. Among authors: nordenskjold a. Am J Med Genet A. 2010 Sep;152A(9):2277-86. doi: 10.1002/ajmg.a.33594. Am J Med Genet A. 2010. PMID: 20803645
Molecular and clinical delineation of the 17q22 microdeletion phenotype.
Laurell T, Lundin J, Anderlid BM, Gorski JL, Grigelioniene G, Knight SJ, Krepischi AC, Nordenskjöld A, Price SM, Rosenberg C, Turnpenny PD, Vianna-Morgante AM, Nordgren A. Laurell T, et al. Among authors: nordenskjold a. Eur J Hum Genet. 2013 Oct;21(10):1085-92. doi: 10.1038/ejhg.2012.306. Epub 2013 Jan 30. Eur J Hum Genet. 2013. PMID: 23361222 Free PMC article.
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. Among authors: nordenskjold a. 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
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: nordenskjold a, nordenskjold e. PLoS One. 2014 Jan 9;9(1):e85313. doi: 10.1371/journal.pone.0085313. eCollection 2014. PLoS One. 2014. PMID: 24416387 Free PMC article.
Identification of three novel FGF16 mutations in X-linked recessive fusion of the fourth and fifth metacarpals and possible correlation with heart disease.
Laurell T, Nilsson D, Hofmeister W, Lindstrand A, Ahituv N, Vandermeer J, Amilon A, Annerén G, Arner M, Pettersson M, Jäntti N, Rosberg HE, Cattini PA, Nordenskjöld A, Mäkitie O, Grigelioniene G, Nordgren A. Laurell T, et al. Among authors: nordenskjold a. Mol Genet Genomic Med. 2014 Sep;2(5):402-11. doi: 10.1002/mgg3.81. Epub 2014 May 14. Mol Genet Genomic Med. 2014. PMID: 25333065 Free PMC article.
301 results