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Eponym: Johanson-Blizzard syndrome.
Rezaei N, Sabbaghian M, Liu Z, Zenker M. Rezaei N, et al. Eur J Pediatr. 2011 Feb;170(2):179-83. doi: 10.1007/s00431-010-1240-5. Epub 2010 Jun 17. Eur J Pediatr. 2011. PMID: 20556422 Review.
NPHS2 gene mutation in an Iranian family with familial steroid-resistant nephrotic syndrome.
Ameli S, Mazaheri M, Zare-Shahabadi A, Ozaltin F, Asgarian F, Monajemzadeh M, Bazargani B, Ataei N, Hajezadeh N, Madani A, Esfahani T, Isaian A, Zenker M, Rezaei N. Ameli S, et al. Among authors: rezaei n. Nefrologia. 2012;32(5):674-6. doi: 10.3265/Nefrologia.pre2012.Jun.11428. Nefrologia. 2012. PMID: 23013956 Free article. No abstract available.
Mutations in the human UBR1 gene and the associated phenotypic spectrum.
Sukalo M, Fiedler A, Guzmán C, Spranger S, Addor MC, McHeik JN, Oltra Benavent M, Cobben JM, Gillis LA, Shealy AG, Deshpande C, Bozorgmehr B, Everman DB, Stattin EL, Liebelt J, Keller KM, Bertola DR, van Karnebeek CD, Bergmann C, Liu Z, Düker G, Rezaei N, Alkuraya FS, Oğur G, Alrajoudi A, Venegas-Vega CA, Verbeek NE, Richmond EJ, Kirbiyik O, Ranganath P, Singh A, Godbole K, Ali FA, Alves C, Mayerle J, Lerch MM, Witt H, Zenker M. Sukalo M, et al. Among authors: rezaei n. Hum Mutat. 2014 May;35(5):521-31. doi: 10.1002/humu.22538. Epub 2014 Apr 9. Hum Mutat. 2014. PMID: 24599544 Review.
Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.
Sukalo M, Schäflein E, Schanze I, Everman DB, Rezaei N, Argente J, Lorda-Sanchez I, Deshpande C, Takahashi T, Kleger A, Zenker M. Sukalo M, et al. Among authors: rezaei n. Mol Genet Genomic Med. 2017 Nov;5(6):774-780. doi: 10.1002/mgg3.319. Epub 2017 Jul 31. Mol Genet Genomic Med. 2017. PMID: 29178640 Free PMC article.
1,587 results