Kariminejad A - Search Results

1

Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts.

Deml B, Kariminejad A, Borujerdi RH, Muheisen S, Reis LM, Semina EV. Deml B, et al. Among authors: kariminejad a. PLoS Genet. 2015 Feb 26;11(2):e1005002. doi: 10.1371/journal.pgen.1005002. eCollection 2015. PLoS Genet. 2015. PMID: 25719200 Free PMC article.

2

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.

3

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes.

Marchegiani S, Davis T, Tessadori F, van Haaften G, Brancati F, Hoischen A, Huang H, Valkanas E, Pusey B, Schanze D, Venselaar H, Vulto-van Silfhout AT, Wolfe LA, Tifft CJ, Zerfas PM, Zambruno G, Kariminejad A, Sabbagh-Kermani F, Lee J, Tsokos MG, Lee CC, Ferraz V, da Silva EM, Stevens CA, Roche N, Bartsch O, Farndon P, Bermejo-Sanchez E, Brooks BP, Maduro V, Dallapiccola B, Ramos FJ, Chung HY, Le Caignec C, Martins F, Jacyk WK, Mazzanti L, Brunner HG, Bakkers J, Lin S, Malicdan MC, Boerkoel CF, Gahl WA, de Vries BB, van Haelst MM, Zenker M, Markello TC. Marchegiani S, et al. Among authors: kariminejad a. Am J Hum Genet. 2015 Jul 2;97(1):99-110. doi: 10.1016/j.ajhg.2015.05.017. Epub 2015 Jun 25. Am J Hum Genet. 2015. PMID: 26119818 Free PMC article.

4

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.

Deml B, Reis LM, Lemyre E, Clark RD, Kariminejad A, Semina EV. Deml B, et al. Among authors: kariminejad a. Eur J Hum Genet. 2016 Apr;24(4):535-41. doi: 10.1038/ejhg.2015.155. Epub 2015 Jul 1. Eur J Hum Genet. 2016. PMID: 26130484 Free PMC article.

5

Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.

Fattahi Z, Kalhor Z, Fadaee M, Vazehan R, Parsimehr E, Abolhassani A, Beheshtian M, Zamani G, Nafissi S, Nilipour Y, Akbari MR, Kahrizi K, Kariminejad A, Najmabadi H. Fattahi Z, et al. Among authors: kariminejad a. Clin Genet. 2017 Mar;91(3):386-402. doi: 10.1111/cge.12810. Epub 2016 Jul 21. Clin Genet. 2017. PMID: 27234031

6

Truncating CHRNG mutations associated with interfamilial variability of the severity of the Escobar variant of multiple pterygium syndrome.

Kariminejad A, Almadani N, Khoshaeen A, Olsson B, Moslemi AR, Tajsharghi H. Kariminejad A, et al. BMC Genet. 2016 May 31;17(1):71. doi: 10.1186/s12863-016-0382-5. BMC Genet. 2016. PMID: 27245440 Free PMC article.

7

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.

Reis LM, Tyler RC, Weh E, Hendee KE, Kariminejad A, Abdul-Rahman O, Ben-Omran T, Manning MA, Yesilyurt A, McCarty CA, Kitchner TE, Costakos D, Semina EV. Reis LM, et al. Among authors: kariminejad a. Mol Vis. 2016 Oct 17;22:1229-1238. eCollection 2016. Mol Vis. 2016. PMID: 27777502 Free PMC article.

8

Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.

Fattahi Z, Rostami P, Najmabadi A, Mohseni M, Kahrizi K, Akbari MR, Kariminejad A, Najmabadi H. Fattahi Z, et al. Among authors: kariminejad a. J Hum Genet. 2014 Jul;59(7):368-75. doi: 10.1038/jhg.2014.28. Epub 2014 May 22. J Hum Genet. 2014. PMID: 24849935

9

Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy.

Fattahi Z, Kahrizi K, Nafissi S, Fadaee M, Abedini SS, Kariminejad A, Akbari MR, Najmabadi H. Fattahi Z, et al. Among authors: kariminejad a. Arch Iran Med. 2015 Jan;18(1):60-4. Arch Iran Med. 2015. PMID: 25556389

10

A role for VAX2 in correct retinal function revealed by a novel genomic deletion at 2p13.3 causing distal Renal Tubular Acidosis: case report.

Norgett EE, Yii A, Blake-Palmer KG, Sharifian M, Allen LE, Najafi A, Kariminejad A, Karet Frankl FE. Norgett EE, et al. Among authors: kariminejad a. BMC Med Genet. 2015 Jun 13;16:38. doi: 10.1186/s12881-015-0182-1. BMC Med Genet. 2015. PMID: 26068435 Free PMC article.

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