Nooridaloii MR - Search Results

1

DFNB93, a novel locus for autosomal recessive moderate-to-severe hearing impairment.

Tabatabaiefar MA, Alasti F, Shariati L, Farrokhi E, Fransen E, Nooridaloii MR, Chaleshtori MH, Van Camp G. Tabatabaiefar MA, et al. Among authors: nooridaloii mr. Clin Genet. 2011 Jun;79(6):594-8. doi: 10.1111/j.1399-0004.2010.01593.x. Clin Genet. 2011. PMID: 21542834 No abstract available.

2

Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Pendred syndrome.

Tabatabaiefar MA, Alasti F, Peeters N, Wuyts W, Nooridaloii MR, Chaleshtori MH, Van Camp G. Tabatabaiefar MA, et al. Among authors: nooridaloii mr. Hum Genet. 2010 Apr;127(4):468-9. Hum Genet. 2010. PMID: 21488234 No abstract available.

3

Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: assessment of GJB4, GJA1, and GJC3.

Kooshavar D, Tabatabaiefar MA, Farrokhi E, Abolhasani M, Noori-Daloii MR, Hashemzadeh-Chaleshtori M. Kooshavar D, et al. Int J Pediatr Otorhinolaryngol. 2013 Feb;77(2):189-93. doi: 10.1016/j.ijporl.2012.10.015. Epub 2012 Nov 8. Int J Pediatr Otorhinolaryngol. 2013. PMID: 23141803 Free article.

4

A Novel Pathogenic Variant in the CABP2 Gene Causes Severe Nonsyndromic Hearing Loss in a Consanguineous Iranian Family.

Koohiyan M, Noori-Daloii MR, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Tabatabaiefar MA. Koohiyan M, et al. Audiol Neurootol. 2019;24(5):258-263. doi: 10.1159/000502251. Epub 2019 Oct 29. Audiol Neurootol. 2019. PMID: 31661684

5

Significant expressivity of Wolfram syndrome: phenotypic assessment of two known and one novel mutation in the WFS1 gene in three Iranian families.

Sobhani M, Tabatabaiefar MA, Rajab A, Kajbafzadeh AM, Noori-Daloii MR. Sobhani M, et al. Mol Biol Rep. 2014 Nov;41(11):7499-505. doi: 10.1007/s11033-014-3642-3. Epub 2014 Aug 31. Mol Biol Rep. 2014. PMID: 25173644

6

Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report.

Sobhani M, Tabatabaiefar MA, Ghafouri-Fard S, Rajab A, Hojjat A, Kajbafzadeh AM, Noori-Daloii MR. Sobhani M, et al. BMC Med Genet. 2020 Jan 14;21(1):13. doi: 10.1186/s12881-020-0950-4. BMC Med Genet. 2020. PMID: 31937257 Free PMC article.

7

A Novel Cadherin 23 Variant for Hereditary Hearing Loss Reveals Additional Support for a DFNB12 Nonsyndromic Phenotype of CDH23.

Koohiyan M, Hashemzadeh-Chaleshtori M, Salehi M, Abtahi H, Noori-Daloii MR, Tabatabaiefar MA. Koohiyan M, et al. Audiol Neurootol. 2020;25(5):258-262. doi: 10.1159/000506500. Epub 2020 Jun 2. Audiol Neurootol. 2020. PMID: 32485727

8

Molecular characterization of WFS1 in an Iranian family with Wolfram syndrome reveals a novel frameshift mutation associated with early symptoms.

Sobhani M, Tabatabaiefar MA, Rajab A, Kajbafzadeh AM, Noori-Daloii MR. Sobhani M, et al. Gene. 2013 Oct 10;528(2):309-13. doi: 10.1016/j.gene.2013.06.040. Epub 2013 Jul 8. Gene. 2013. PMID: 23845777

9

A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family.

Jalilian N, Tabatabaiefar MA, Farhadi M, Bahrami T, Noori-Daloii MR. Jalilian N, et al. Int J Pediatr Otorhinolaryngol. 2015 Oct;79(10):1736-40. doi: 10.1016/j.ijporl.2015.07.039. Epub 2015 Aug 3. Int J Pediatr Otorhinolaryngol. 2015. PMID: 26279250

10

SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.

Jalilian N, Tabatabaiefar MA, Alimadadi H, Noori-Daloii MR. Jalilian N, et al. Int J Pediatr Otorhinolaryngol. 2017 May;96:122-126. doi: 10.1016/j.ijporl.2017.03.016. Epub 2017 Mar 16. Int J Pediatr Otorhinolaryngol. 2017. PMID: 28390600

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