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Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A, Fattahi Z, Beheshtian M, Fadaee M, Vazehan R, Ahangari F, Dehdahsi S, Faraji Zonooz M, Parsimehr E, Kalhor Z, Peymani F, Mozaffarpour Nouri M, Babanejad M, Noudehi K, Fatehi F, Zamanian Najafabadi S, Afroozan F, Yazdan H, Bozorgmehr B, Azarkeivan A, Sadat Mahdavi S, Nikuei P, Fatehi F, Jamali P, Ashrafi MR, Karimzadeh P, Habibi H, Kahrizi K, Nafissi S, Kariminejad A, Najmabadi H. Abolhassani A, et al. Among authors: kariminejad a. NPJ Genom Med. 2024 Feb 19;9(1):12. doi: 10.1038/s41525-024-00393-0. NPJ Genom Med. 2024. PMID: 38374194 Free PMC article.
VSX2 mutations in autosomal recessive microphthalmia.
Reis LM, Khan A, Kariminejad A, Ebadi F, Tyler RC, Semina EV. Reis LM, et al. Among authors: kariminejad a. Mol Vis. 2011;17:2527-32. Epub 2011 Sep 28. Mol Vis. 2011. PMID: 21976963 Free PMC article.
Complete COL1A1 allele deletions in osteogenesis imperfecta.
van Dijk FS, Huizer M, Kariminejad A, Marcelis CL, Plomp AS, Terhal PA, Meijers-Heijboer H, Weiss MM, van Rijn RR, Cobben JM, Pals G. van Dijk FS, et al. Among authors: kariminejad a. Genet Med. 2010 Nov;12(11):736-41. doi: 10.1097/GIM.0b013e3181f01617. Genet Med. 2010. PMID: 21113976 Free 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
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrum.
Matejas V, Hinkes B, Alkandari F, Al-Gazali L, Annexstad E, Aytac MB, Barrow M, Bláhová K, Bockenhauer D, Cheong HI, Maruniak-Chudek I, Cochat P, Dötsch J, Gajjar P, Hennekam RC, Janssen F, Kagan M, Kariminejad A, Kemper MJ, Koenig J, Kogan J, Kroes HY, Kuwertz-Bröking E, Lewanda AF, Medeira A, Muscheites J, Niaudet P, Pierson M, Saggar A, Seaver L, Suri M, Tsygin A, Wühl E, Zurowska A, Uebe S, Hildebrandt F, Antignac C, Zenker M. Matejas V, et al. Among authors: kariminejad a. Hum Mutat. 2010 Sep;31(9):992-1002. doi: 10.1002/humu.21304. Hum Mutat. 2010. PMID: 20556798 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
157 results