Davoudi-Dehaghani E - Search Results

1

Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.

Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A; SYNaPS Study Group; University of Washington Center for Mendelian Genomics; Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH. Yap ZY, et al. Among authors: davoudi dehaghani e. Am J Hum Genet. 2021 Dec 2;108(12):2368-2384. doi: 10.1016/j.ajhg.2021.11.003. Epub 2021 Nov 19. Am J Hum Genet. 2021. PMID: 34800363 Free PMC article.

2

A transversion mutation in non-coding exon 3 of the TMC1 gene in two ethnically related Iranian deaf families from different geographical regions; evidence for founder effect.

Davoudi-Dehaghani E, Zeinali S, Mahdieh N, Shirkavand A, Bagherian H, Tabatabaiefar MA. Davoudi-Dehaghani E, et al. Int J Pediatr Otorhinolaryngol. 2013 May;77(5):821-6. doi: 10.1016/j.ijporl.2013.02.021. Epub 2013 Mar 21. Int J Pediatr Otorhinolaryngol. 2013. PMID: 23523375

3

Reporting the presence of three different diseases causing GJB2 mutations in a consanguineous deaf family.

Davoudi-Dehaghani E, Fallah MS, Shirzad T, Tavakkoly-Bazzaz J, Bagherian H, Zeinali S. Davoudi-Dehaghani E, et al. Int J Audiol. 2014 Feb;53(2):128-31. doi: 10.3109/14992027.2013.850748. Epub 2013 Nov 13. Int J Audiol. 2014. PMID: 24224790

4

GJB2 c.-23+1G>A mutation is second most common mutation among Iranian individuals with autosomal recessive hearing loss.

Zeinali S, Davoudi-Dehaghani E, Azadmehr S, DabbaghBagheri S, Bagherian H, Jamali M, Zafarghandimotlagh F, Masoodifard M, BandehiSarhaddi A, Rejali L, Sahebi S. Zeinali S, et al. Eur Arch Otorhinolaryngol. 2015 Sep;272(9):2255-9. doi: 10.1007/s00405-014-3171-7. Epub 2014 Jul 11. Eur Arch Otorhinolaryngol. 2015. PMID: 25012701

5

Allelic heterogeneity among Iranian DFNB7/11 families: report of a new Iranian deaf family with TMC1 mutation identified by next-generation sequencing.

Davoudi-Dehaghani E, Fallah MS, Tavakkoly-Bazzaz J, Bagherian H, Zeinali S. Davoudi-Dehaghani E, et al. Acta Otolaryngol. 2015 Feb;135(2):125-9. doi: 10.3109/00016489.2014.969383. Epub 2014 Nov 25. Acta Otolaryngol. 2015. PMID: 25423259

6

The first successful application of preimplantation genetic diagnosis for hearing loss in Iran.

Karimi Yazdi A, Davoudi-Dehaghani E, Rabbani Anari M, Fouladi P, Ebrahimi E, Sabeghi S, Eftekharian A, Fatemi KS, Emami H, Sharifi Z, Ramezanzadeh F, Tajdini A, Zeinali S, Amanpour S. Karimi Yazdi A, et al. Cell Mol Biol (Noisy-le-grand). 2018 Jun 30;64(9):1718. Cell Mol Biol (Noisy-le-grand). 2018. PMID: 30030956

7

Characterization of Niemann-Pick diseases genes mutation spectrum in Iran and identification of a novel mutation in SMPD1 gene.

Zahedi Abghari F, Bayat F, Razipour M, Karimipoor M, Taghavi-Basmenj M, Zeinali S, Davoudi-Dehaghani E. Zahedi Abghari F, et al. Among authors: davoudi dehaghani e. Med J Islam Repub Iran. 2019 Nov 25;33:126. doi: 10.34171/mjiri.33.126. eCollection 2019. Med J Islam Repub Iran. 2019. PMID: 32280632 Free PMC article.

8

Regulatory Mutation Study in Cases with Unsolved Hypochromic Microcytic Anemia and α-Major Regulatory Element Haplotype Analysis in Iran.

Alimohammadi-Bidhendi S, Azadmehr S, Razipour M, Zeinali S, Eslami M, Davoudi-Dehaghani E. Alimohammadi-Bidhendi S, et al. Among authors: davoudi dehaghani e. Hemoglobin. 2021 Jan;45(1):37-40. doi: 10.1080/03630269.2021.1882482. Epub 2021 Mar 27. Hemoglobin. 2021. PMID: 33775199

9

The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A.

Azadmehr S, Rahiminejad F, Zafarghandi Motlagh F, Jamali M, Ghazizadeh Tehrani P, Shirzadeh T, Bagherian H, Karimipoor M, Davoudi-Dehaghani E, Zeinali S. Azadmehr S, et al. Among authors: davoudi dehaghani e. Arch Iran Med. 2021 Dec 1;24(12):887-896. doi: 10.34172/aim.2021.133. Arch Iran Med. 2021. PMID: 35014236 Free article.

10

Identification and characterization of the largest deletion in the PCCA gene causing severe acute early-onset form of propionic acidemia.

Maryami F, Davoudi-Dehaghani E, Khalesi N, Rismani E, Rahimi H, Talebi S, Zeinali S. Maryami F, et al. Among authors: davoudi dehaghani e. Mol Genet Genomics. 2023 Jul;298(4):905-917. doi: 10.1007/s00438-023-02023-3. Epub 2023 May 2. Mol Genet Genomics. 2023. PMID: 37131081

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