Aryani O - Search Results

1

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.

Van Damme T, Colige A, Syx D, Giunta C, Lindert U, Rohrbach M, Aryani O, Alanay Y, Simsek-Kiper PÖ, Kroes HY, Devriendt K, Thiry M, Symoens S, De Paepe A, Malfait F. Van Damme T, et al. Among authors: aryani o. Genet Med. 2016 Sep;18(9):882-91. doi: 10.1038/gim.2015.188. Epub 2016 Jan 14. Genet Med. 2016. PMID: 26765342 Free article.

2

WISP3 mutation associated with pseudorheumatoid dysplasia.

Sailani MR, Chappell J, Jingga I, Narasimha A, Zia A, Lynch JL, Mazrouei S, Bernstein JA, Aryani O, Snyder MP. Sailani MR, et al. Among authors: aryani o. Cold Spring Harb Mol Case Stud. 2018 Feb 1;4(1):a001990. doi: 10.1101/mcs.a001990. Print 2018 Feb. Cold Spring Harb Mol Case Stud. 2018. PMID: 29092958 Free PMC article.

3

A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease).

Aryani O, Manshadi MD, Tondar M, Khalili E, Kamalidehghan B, Ahmadipour F, Fani S, Houshmand M. Aryani O, et al. Mol Biol Rep. 2014 Sep;41(9):6211-4. doi: 10.1007/s11033-014-3500-3. Epub 2014 Jun 30. Mol Biol Rep. 2014. PMID: 24976573

4

Low incidence of alpha-1-antitrypsin deficiency in Iranian patients with neonatal cholestasis.

Motamed F, Mehrabani S, Monajemzadeh M, Haghi Ashtiani MT, Hosseinverdi S, Houshmand M, Aryani O, Najafi M, Farahmand F, Kiani MA, Khodadad A, Fallahi GH, Khatami G, Rezaei N. Motamed F, et al. Among authors: aryani o. Turk J Gastroenterol. 2015 May;26(3):251-3. doi: 10.5152/tjg.2015.6339. Turk J Gastroenterol. 2015. PMID: 26006201 Free article.

5

A novel PANK2 gene mutation in a Persian boy: the first report from Iran.

Aryani O, Houshmand M, Fatehi F. Aryani O, et al. Clin Neurol Neurosurg. 2013 Jul;115(7):1170-2. doi: 10.1016/j.clineuro.2012.10.004. Epub 2012 Oct 30. Clin Neurol Neurosurg. 2013. PMID: 23116688 No abstract available.

6

Late-onset pompe disease in Iran: A clinical and genetic report.

Nazari F, Sinaei F, Nilipour Y, Fatehi F, Streubel B, Ashrafi MR, Aryani O, Nafissi S. Nazari F, et al. Among authors: aryani o. Muscle Nerve. 2017 Jun;55(6):835-840. doi: 10.1002/mus.25413. Epub 2017 Feb 3. Muscle Nerve. 2017. PMID: 27649523

7

Novel Mutations in Sandhoff Disease: A Molecular Analysis among Iranian Cohort of Infantile Patients.

Aryan H, Aryani O, Banihashemi K, Zaman T, Houshmand M. Aryan H, et al. Among authors: aryani o. Iran J Public Health. 2012;41(3):112-8. Epub 2012 Mar 31. Iran J Public Health. 2012. PMID: 23113155 Free PMC article.

8

Alexander Disease: Report of Two Unrelated Infantile Form Cases, Identified by GFAP Mutation Analysis and Review of Literature; The First Report from Iran.

Ashrafi MR, Tavasoli A, Aryani O, Alizadeh H, Houshmand M. Ashrafi MR, et al. Among authors: aryani o. Iran J Pediatr. 2013 Aug;23(4):481-4. Iran J Pediatr. 2013. PMID: 24427505 Free PMC article.

9

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.

Buelow M, Süßmuth D, Smith LD, Aryani O, Castiglioni C, Stenzel W, Bertini E, Schuelke M, Knierim E. Buelow M, et al. Among authors: aryani o. Eur J Hum Genet. 2021 Jul;29(7):1121-1128. doi: 10.1038/s41431-021-00846-5. Epub 2021 Mar 26. Eur J Hum Genet. 2021. PMID: 33772159 Free PMC article.

10

Identification of a new mutation in an Iranian family with hereditary multiple osteochondromas.

Akbaroghli S, Balali M, Kamalidehghan B, Saber S, Aryani O, Meng GY, Houshmand M. Akbaroghli S, et al. Among authors: aryani o. Ther Clin Risk Manag. 2016 Dec 20;13:15-19. doi: 10.2147/TCRM.S111717. eCollection 2017. Ther Clin Risk Manag. 2016. PMID: 28053536 Free PMC article.

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