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Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.
Kasher PR, Schertz KE, Thomas M, Jackson A, Annunziata S, Ballesta-Martinez MJ, Campeau PM, Clayton PE, Eaton JL, Granata T, Guillén-Navarro E, Hernando C, Laverriere CE, Liedén A, Villa-Marcos O, McEntagart M, Nordgren A, Pantaleoni C, Pebrel-Richard C, Sarret C, Sciacca FL, Wright R, Kerr B, Glasgow E, Banka S. Kasher PR, et al. Among authors: nordgren a. Am J Hum Genet. 2016 Feb 4;98(2):363-72. doi: 10.1016/j.ajhg.2015.12.014. Epub 2016 Jan 28. Am J Hum Genet. 2016. PMID: 26833329 Free PMC article.
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: nordgren 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: nordgren 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
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. Among authors: nordgren a. 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
Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations.
Ockeloen CW, Willemsen MH, de Munnik S, van Bon BW, de Leeuw N, Verrips A, Kant SG, Jones EA, Brunner HG, van Loon RL, Smeets EE, van Haelst MM, van Haaften G, Nordgren A, Malmgren H, Grigelioniene G, Vermeer S, Louro P, Ramos L, Maal TJ, van Heumen CC, Yntema HG, Carels CE, Kleefstra T. Ockeloen CW, et al. Among authors: nordgren a. Eur J Hum Genet. 2015 Sep;23(9):1176-85. doi: 10.1038/ejhg.2014.253. Epub 2014 Nov 26. Eur J Hum Genet. 2015. PMID: 25424714 Free PMC article.
232 results