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Page 1
Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies.
Vaseghi P, Habibi L, Neidich JA, Cao Y, Fattahi N, Rashidi-Nezhad R, Salehnezhad T, Dalili H, Rahimi Sharbaf F, Zarkesh MR, Malekian M, Mokhberdezfuli M, Mehrtash A, Ardeshirdavani A, Kariminejad R, Ghorbansabagh V, Sadeghimoghadam P, Naddaf A, Esmaeilnia Shirvany T, Mosayebi Z, Sahebdel B, Golshahi F, Shirazi M, Shamel S, Moeini R, Heidari A, Daneshmand MA, Ghasemi R, Akrami SM, Rashidi-Nezhad A. Vaseghi P, et al. Among authors: kariminejad r. Eur J Hum Genet. 2024 Oct;32(10):1238-1249. doi: 10.1038/s41431-024-01533-x. Epub 2024 Jan 26. Eur J Hum Genet. 2024. PMID: 38278869
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.
Kahrizi K, Hu CH, Garshasbi M, Abedini SS, Ghadami S, Kariminejad R, Ullmann R, Chen W, Ropers HH, Kuss AW, Najmabadi H, Tzschach A. Kahrizi K, et al. Among authors: kariminejad r. Eur J Hum Genet. 2011 Jan;19(1):115-7. doi: 10.1038/ejhg.2010.132. Epub 2010 Aug 11. Eur J Hum Genet. 2011. PMID: 20700148 Free PMC article.
Pericentric inversion of chromosome 18 in parents leading to a phenotypically normal child with segmental uniparental disomy 18.
Kariminejad A, Kariminejad R, Moshtagh A, Zanganeh M, Kariminejad MH, Neuenschwander S, Okoniewski M, Wey E, Schinzel A, Baumer A. Kariminejad A, et al. Among authors: kariminejad mh, kariminejad r. Eur J Hum Genet. 2011 May;19(5):555-60. doi: 10.1038/ejhg.2010.252. Epub 2011 Feb 16. Eur J Hum Genet. 2011. PMID: 21326286 Free PMC article.
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
Kuechler A, Zink AM, Wieland T, Lüdecke HJ, Cremer K, Salviati L, Magini P, Najafi K, Zweier C, Czeschik JC, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi M, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad R, Schlessinger A, Wieczorek D, Strom TM, Novarino G, Engels H. Kuechler A, et al. Among authors: kariminejad r. Eur J Hum Genet. 2015 Jun;23(6):753-60. doi: 10.1038/ejhg.2014.165. Epub 2014 Aug 20. Eur J Hum Genet. 2015. PMID: 25138099 Free PMC article.
Chromosome abnormality rate among Iranian patients with idiopathic mental retardation from consanguineous marriages.
Behjati F, Ghasemi Firouzabadi S, Kahrizi K, Kariminejad R, Bagherizadeh I, Ansari J, Fallah M, Mojtahedi F, Darvish H, Bahrami Monajemi G, Abedini SS, Jamali P, Mojahedi F, Zadeh-Vakili A, Najmabadi H. Behjati F, et al. Among authors: kariminejad r. Arch Med Sci. 2011 Apr;7(2):321-5. doi: 10.5114/aoms.2011.22085. Epub 2011 May 17. Arch Med Sci. 2011. PMID: 22291774 Free PMC article.
45 results