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Homozygous variants in the gene SCAPER cause syndromic intellectual disability.
Kahrizi K, Huber M, Galetzka D, Dewi S, Schröder J, Weis E, Kariminejad A, Fattahi Z, Ropers HH, Schweiger S, Najmabadi H, Winter J. Kahrizi K, et al. Among authors: kariminejad a. Am J Med Genet A. 2019 Jul;179(7):1214-1225. doi: 10.1002/ajmg.a.61172. Epub 2019 May 9. Am J Med Genet A. 2019. PMID: 31069901
11q14.1-11q22.1 deletion in a 1-year-old male with minor dysmorphic features.
Kariminejad A, Kariminejad R, Tzschach A, Najafi H, Ahmed A, Ullmann R, Ropers HH, Kariminejad MH. Kariminejad A, et al. Among authors: kariminejad mh, kariminejad r. Am J Med Genet A. 2010 Oct;152A(10):2651-5. doi: 10.1002/ajmg.a.33623. Am J Med Genet A. 2010. PMID: 20799331 No abstract available.
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Mallebrera CJ, Nascimento A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A, Lochmüller H. Senderek J, et al. Among authors: kariminejad a. Am J Hum Genet. 2011 Feb 11;88(2):162-72. doi: 10.1016/j.ajhg.2011.01.008. Am J Hum Genet. 2011. PMID: 21310273 Free PMC article.
Mutations in GRIP1 cause Fraser syndrome.
Vogel MJ, van Zon P, Brueton L, Gijzen M, van Tuil MC, Cox P, Schanze D, Kariminejad A, Ghaderi-Sohi S, Blair E, Zenker M, Scambler PJ, Ploos van Amstel HK, van Haelst MM. Vogel MJ, et al. Among authors: kariminejad a. J Med Genet. 2012 May;49(5):303-6. doi: 10.1136/jmedgenet-2011-100590. Epub 2012 Apr 17. J Med Genet. 2012. PMID: 22510445
Retinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutations.
Kariminejad A, Bozorgmehr B, Najafi A, Khoshaeen A, Ghalandari M, Najmabadi H, Kariminejad MH, Vanakker OM, Hosen MJ, Malfait F, Quaglino D, Florijn RJ, Bergen AAB, Hennekam RC. Kariminejad A, et al. Among authors: kariminejad mh. J Invest Dermatol. 2014 Sep;134(9):2331-2338. doi: 10.1038/jid.2014.191. Epub 2014 Apr 16. J Invest Dermatol. 2014. PMID: 24739904 Free article.
154 results