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Page 1
Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica.
Kariminejad A, Afroozan F, Bozorgmehr B, Ghanadan A, Akbaroghli S, Khorram Khorshid HR, Mojahedi F, Setoodeh A, Loh A, Tan YX, Escande-Beillard N, Malfait F, Reversade B, Gardeitchik T, Morava E. Kariminejad A, et al. Int J Mol Sci. 2017 Mar 15;18(3):635. doi: 10.3390/ijms18030635. Int J Mol Sci. 2017. PMID: 28294978 Free PMC article. Review.
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
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder.
Malfait F, Kariminejad A, Van Damme T, Gauche C, Syx D, Merhi-Soussi F, Gulberti S, Symoens S, Vanhauwaert S, Willaert A, Bozorgmehr B, Kariminejad MH, Ebrahimiadib N, Hausser I, Huysseune A, Fournel-Gigleux S, De Paepe A. Malfait F, et al. Among authors: kariminejad mh, kariminejad a. Am J Hum Genet. 2013 Jun 6;92(6):935-45. doi: 10.1016/j.ajhg.2013.04.016. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664118 Free PMC article.
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
Gardeitchik T, Mohamed M, Fischer B, Lammens M, Lefeber D, Lace B, Parker M, Kim KJ, Lim BC, Häberle J, Garavelli L, Jagadeesh S, Kariminejad A, Guerra D, Leão M, Keski-Filppula R, Brunner H, Nijtmans L, van den Heuvel B, Wevers R, Kornak U, Morava E. Gardeitchik T, et al. Among authors: kariminejad a. Eur J Hum Genet. 2014 Jul;22(7):888-95. doi: 10.1038/ejhg.2013.154. Epub 2013 Aug 21. Eur J Hum Genet. 2014. PMID: 23963297 Free PMC article.
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.
157 results