Sedghi M - Search Results

1

Homozygous MAPT R406W mutation causing FTDP phenotype: A unique instance of a unique mutation.

Behnam M, Ghorbani F, Shin JH, Kim DS, Jang H, Nouri N, Sedghi M, Salehi M, Ansari B, Basiri K. Behnam M, et al. Among authors: sedghi m. Gene. 2015 Oct 1;570(1):150-2. doi: 10.1016/j.gene.2015.06.033. Epub 2015 Jun 15. Gene. 2015. PMID: 26086902

2

A novel mutation in the aprataxin (APTX) gene in an Iranian individual suffering early-onset ataxia with oculomotor apraxia type 1(AOA1) disease.

Nouri N, Nouri N, Aryani O, Kamalidehghan B, Sedghi M, Houshmand M. Nouri N, et al. Among authors: sedghi m. Iran Biomed J. 2012;16(4):223-5. doi: 10.6091/ibj.1077.2012. Iran Biomed J. 2012. PMID: 23183622 Free PMC article.

3

A case report of 22q11 deletion syndrome confirmed by array-CGH method.

Sedghi M, Nouri N, Abdali H, Memarzadeh M, Nouri N. Sedghi M, et al. J Res Med Sci. 2012 Mar;17(3):310-2. J Res Med Sci. 2012. PMID: 23267387 Free PMC article.

4

Association between mismatch repair gene MSH3 codons 1036 and 222 polymorphisms and sporadic prostate cancer in the Iranian population.

Jafary F, Salehi M, Sedghi M, Nouri N, Jafary F, Sadeghi F, Motamedi S, Talebi M. Jafary F, et al. Among authors: sedghi m. Asian Pac J Cancer Prev. 2012;13(12):6055-7. doi: 10.7314/apjcp.2012.13.12.6055. Asian Pac J Cancer Prev. 2012. PMID: 23464402 Free article.

5

Clinical features in a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1.

Basiri K, Belaya K, Liu WW, Maxwell S, Sedghi M, Beeson D. Basiri K, et al. Among authors: sedghi m. Neuromuscul Disord. 2013 Jun;23(6):469-72. doi: 10.1016/j.nmd.2013.03.003. Epub 2013 Apr 13. Neuromuscul Disord. 2013. PMID: 23591138 Free PMC article.

6

Use of in silico tools for classification of novel missense mutations identified in dystrophin gene in developing countries.

Nouri N, Fazel-Najafabadi E, Behnam M, Nouri N, Aryani O, Ghasemi M, Nasiri J, Sedghi M. Nouri N, et al. Among authors: sedghi m. Gene. 2014 Feb 10;535(2):250-4. doi: 10.1016/j.gene.2013.11.022. Epub 2013 Nov 22. Gene. 2014. PMID: 24274981

7

Detection of intragenic SMN1 mutations in spinal muscular atrophy patients with a single copy of SMN1.

Ganji H, Nouri N, Salehi M, Aryani O, Houshmand M, Basiri K, Fazel-Najafabadi E, Sedghi M. Ganji H, et al. Among authors: sedghi m. J Child Neurol. 2015 Apr;30(5):558-62. doi: 10.1177/0883073814521297. Epub 2014 Feb 20. J Child Neurol. 2015. PMID: 24563475

8

Evaluation of multiplex ligation-dependent probe amplification analysis versus multiplex polymerase chain reaction assays in the detection of dystrophin gene rearrangements in an Iranian population subset.

Nouri N, Fazel-Najafabadi E, Salehi M, Hosseinzadeh M, Behnam M, Ghazavi MR, Sedghi M. Nouri N, et al. Among authors: sedghi m. Adv Biomed Res. 2014 Jan 27;3:72. doi: 10.4103/2277-9175.125862. eCollection 2014. Adv Biomed Res. 2014. PMID: 24627880 Free PMC article.

9

Genotype-phenotype correlation of survival motor neuron and neuronal apoptosis inhibitory protein genes in spinal muscular atrophy patients from Iran.

Sedghi M, Behnam M, Fazel E, Salehi M, Ganji H, Meamar R, Hosseinzadeh M, Nouri N. Sedghi M, et al. Adv Biomed Res. 2014 Jan 27;3:74. doi: 10.4103/2277-9175.125872. eCollection 2014. Adv Biomed Res. 2014. PMID: 24627882 Free PMC article.

10

Family-based association analysis between nonsyndromic cleft lip with or without cleft palate and IRF6 polymorphism in an Iranian population.

Nouri N, Memarzadeh M, Carinci F, Cura F, Scapoli L, Nouri N, Jafary F, Sedghi M, Sadri L, Salehi M. Nouri N, et al. Among authors: sedghi m. Clin Oral Investig. 2015 May;19(4):891-4. doi: 10.1007/s00784-014-1305-3. Epub 2014 Sep 16. Clin Oral Investig. 2015. PMID: 25220223

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