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Page 1
Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.
Bonafé L, Kariminejad A, Li J, Royer-Bertrand B, Garcia V, Mahdavi S, Bozorgmehr B, Lachman RL, Mittaz-Crettol L, Campos-Xavier B, Nampoothiri S, Unger S, Rivolta C, Levade T, Superti-Furga A. Bonafé L, et al. Among authors: kariminejad a. Arthritis Rheumatol. 2016 Sep;68(9):2323-7. doi: 10.1002/art.39659. Epub 2016 Jul 29. Arthritis Rheumatol. 2016. PMID: 26945816
Skull defects, alopecia and distinctive facies: a new syndrome?
Kariminejad A, Bozorgmehr B, Ashrafi MR, Kariminejad MH. Kariminejad A, et al. Among authors: kariminejad mh. Clin Dysmorphol. 2008 Jul;17(3):203-205. doi: 10.1097/MCD.0b013e3282fba59d. Clin Dysmorphol. 2008. PMID: 18541970 No abstract available.
Clinical variability in acro-cardio-facial-syndrome.
Kariminejad A, Bozorgmehr B, Sedighi Gilani MA, Almadani N, Kariminejad MH. Kariminejad A, et al. Among authors: kariminejad mh. Am J Med Genet A. 2008 Aug 1;146A(15):1977-9. doi: 10.1002/ajmg.a.32052. Am J Med Genet A. 2008. PMID: 18627040
Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities.
Kretz R, Bozorgmehr B, Kariminejad MH, Rohrbach M, Hausser I, Baumer A, Baumgartner M, Giunta C, Kariminejad A, Häberle J. Kretz R, et al. Among authors: kariminejad mh, kariminejad a. J Inherit Metab Dis. 2011 Jun;34(3):731-9. doi: 10.1007/s10545-011-9319-3. Epub 2011 Apr 13. J Inherit Metab Dis. 2011. PMID: 21487760
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H. Guergueltcheva V, et al. Among authors: kariminejad a. J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6. J Neurol. 2012. PMID: 21975507
Ullrich Congenital Muscular Dystrophy (UCMD): Clinical and Genetic Correlations.
Bozorgmehr B, Kariminejad A, Nafissi S, Jebelli B, Andoni U, Gartioux C, Ledeuil C, Allamand V, Richard P, Kariminejad MH. Bozorgmehr B, et al. Among authors: kariminejad mh, kariminejad a. Iran J Child Neurol. 2013 Summer;7(3):15-22. Iran J Child Neurol. 2013. PMID: 24665301 Free PMC article.
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.
157 results