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Items: 45

1.

Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies.

Mohammadzadeh A, Akbaroghli S, Aghaei-Moghadam E, Mahdieh N, Badv RS, Jamali P, Kariminejad R, Chavoshzadeh Z, Ghasemi Firouzabadi S, Mansour Ghanaie R, Nozari A, Banihashemi S, Hadipour F, Hadipour Z, Kariminejad A, Najmabadi H, Shafeghati Y, Behjati F.

Cell J. 2019 Oct;21(3):337-349. doi: 10.22074/ cellj.2019.6053. Epub 2019 Jun 15.

PMID:
31210441
2.

GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co-occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease.

Kalayinia S, Maleki M, Rokni-Zadeh H, Changi-Ashtiani M, Ahangar H, Biglari A, Shahani T, Mahdieh N.

J Clin Lab Anal. 2019 May 22:e22923. doi: 10.1002/jcla.22923. [Epub ahead of print]

PMID:
31115957
3.

Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients.

Rezaei Z, Hosseinpour S, Ashrafi MR, Mahdieh N, Alizadeh H, Mohammadpour M, Khosroshahi N, Amanat M, Tavasoli AR.

Neuropediatrics. 2019 Apr;50(2):130-134. doi: 10.1055/s-0039-1679911. Epub 2019 Feb 21.

PMID:
30791064
4.

Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report.

Kalayinia S, Shahani T, Biglari A, Maleki M, Rokni-Zadeh H, Razavi Z, Mahdieh N.

J Clin Lab Anal. 2019 Feb;33(2):e22663. doi: 10.1002/jcla.22663. Epub 2018 Sep 26.

PMID:
30259573
5.

Correction to: Clopidogrel Pharmacogenetics in Iranian Patients Undergoing Percutaneous Coronary Intervention.

Mahdieh N, Rabbani A, Firouzi A, Zahedmehr A, Hoseinimoghaddam M, Saedi S, Sanati H, Basiri H, Noohi F, Rabbani B, Maleki M.

Cardiovasc Toxicol. 2018 Oct;18(5):492. doi: 10.1007/s12012-018-9475-x.

PMID:
30094619
6.

A novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D.

Mahdieh N, Saedi S, Soveizi M, Rabbani B, Najafi N, Maleki M.

Med J Islam Repub Iran. 2018 Feb 6;32:5. doi: 10.14196/mjiri.32.5. eCollection 2018.

7.

Clopidogrel Pharmacogenetics in Iranian Patients Undergoing Percutaneous Coronary Intervention.

Mahdieh N, Rabbani A, Firouzi A, Zahedmehr A, Hoseinimoghaddam M, Saedi S, Sanati H, Basiri H, Noohi F, Rabbani B, Maleki M.

Cardiovasc Toxicol. 2018 Oct;18(5):482-491. doi: 10.1007/s12012-018-9459-x. Erratum in: Cardiovasc Toxicol. 2018 Aug 9;:.

PMID:
29777510
8.

Genotypic effect of a mutation of the MYBPC3 gene and two phenotypes with different patterns of inheritance.

Mahdieh N, Hosseini Moghaddam M, Motavaf M, Rabbani A, Soveizi M, Maleki M, Rabbani B, Alizadeh-Asl A.

J Clin Lab Anal. 2018 Mar 1. doi: 10.1002/jcla.22419. [Epub ahead of print]

PMID:
29493010
9.

Genotype, phenotype and in silico pathogenicity analysis of HEXB mutations: Panel based sequencing for differential diagnosis of gangliosidosis.

Mahdieh N, Mikaeeli S, Tavasoli AR, Rezaei Z, Maleki M, Rabbani B.

Clin Neurol Neurosurg. 2018 Apr;167:43-53. doi: 10.1016/j.clineuro.2018.02.011. Epub 2018 Feb 8.

PMID:
29448188
10.

Pathogenic significance of SCN1A splicing variants causing Dravet syndrome: Improving diagnosis with targeted sequencing for variants by in silico analysis.

Mahdieh N, Mikaeeli S, Badv RS, Shirazi AG, Maleki M, Rabbani B.

Clin Neurol Neurosurg. 2018 Mar;166:80-90. doi: 10.1016/j.clineuro.2018.01.030. Epub 2018 Jan 31.

PMID:
29408779
11.

Next generation sequencing applications for cardiovascular disease.

Kalayinia S, Goodarzynejad H, Maleki M, Mahdieh N.

Ann Med. 2018 Mar;50(2):91-109. doi: 10.1080/07853890.2017.1392595. Epub 2017 Oct 26.

PMID:
29027470
12.

Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.

Cengiz FB, Yilmazer R, Olgun L, Sennaroglu L, Kirazli T, Alper H, Olgun Y, Incesulu A, Atik T, Huesca-Hernandez F, Domínguez-Aburto J, González-Rosado G, Hernandez-Zamora E, Arenas-Sordo ML, Menendez I, Orhan KS, Avci H, Mahdieh N, Bonyadi M, Foster J 2nd, Duman D, Ozkinay F, Blanton SH, Bademci G, Tekin M.

Int J Pediatr Otorhinolaryngol. 2017 Oct;101:167-171. doi: 10.1016/j.ijporl.2017.08.006. Epub 2017 Aug 8.

13.

Autosomal Recessive Nonsyndromic Arrhythmogenic Right Ventricular Cardiomyopathy without Cutaneous Involvements: A Novel Mutation.

Soveizi M, Rabbani B, Rezaei Y, Saedi S, Najafi N, Maleki M, Mahdieh N.

Ann Hum Genet. 2017 Jul;81(4):135-140. doi: 10.1111/ahg.12193. Epub 2017 May 19. Review.

14.

The Frequency of HBB Mutations Among β-Thalassemia Patients in Hamadan Province, Iran.

Jalilian M, Azizi Jalilian F, Ahmadi L, Amini R, Esfehani H, Sosanian M, Rabbani B, Maleki M, Mahdieh N.

Hemoglobin. 2017 Jan;41(1):61-64. doi: 10.1080/03630269.2017.1302468. Epub 2017 Apr 10.

PMID:
28391758
15.

MYO15A splicing mutations in hearing loss: A review literature and report of a novel mutation.

Motavaf M, Soveizi M, Maleki M, Mahdieh N.

Int J Pediatr Otorhinolaryngol. 2017 May;96:35-38. doi: 10.1016/j.ijporl.2017.03.008. Epub 2017 Mar 6. Review.

PMID:
28390610
16.

Construction, expression, and activity of a novel immunotoxin comprising a humanized antiepidermal growth factor receptor scFv and modified Pseudomonas aeruginosa exotoxin A.

Akbari B, Farajnia S, Zarghami N, Mahdieh N, Rahmati M, Khosroshahi SA, Barzegar A, Rahbarnia L.

Anticancer Drugs. 2017 Mar;28(3):263-270. doi: 10.1097/CAD.0000000000000452.

PMID:
27861173
17.

Beta thalassemia in 31,734 cases with HBB gene mutations: Pathogenic and structural analysis of the common mutations; Iran as the crossroads of the Middle East.

Mahdieh N, Rabbani B.

Blood Rev. 2016 Nov;30(6):493-508. doi: 10.1016/j.blre.2016.07.001. Epub 2016 Jul 15. Review.

PMID:
27453201
18.

Design, expression and evaluation of a novel humanized single chain antibody against epidermal growth factor receptor (EGFR).

Akbari B, Farajnia S, Zarghami N, Mahdieh N, Rahmati M, Khosroshahi SA, Rahbarnia L.

Protein Expr Purif. 2016 Nov;127:8-15. doi: 10.1016/j.pep.2016.06.001. Epub 2016 Jun 11.

PMID:
27298212
19.

Next generation sequencing: implications in personalized medicine and pharmacogenomics.

Rabbani B, Nakaoka H, Akhondzadeh S, Tekin M, Mahdieh N.

Mol Biosyst. 2016 May 24;12(6):1818-30. doi: 10.1039/c6mb00115g. Review.

PMID:
27066891
20.

Comprehensive analysis via exome sequencing uncovers genetic etiology in autosomal recessive nonsyndromic deafness in a large multiethnic cohort.

Bademci G, Foster J 2nd, Mahdieh N, Bonyadi M, Duman D, Cengiz FB, Menendez I, Diaz-Horta O, Shirkavand A, Zeinali S, Subasioglu A, Tokgoz-Yilmaz S, Huesca-Hernandez F, de la Luz Arenas-Sordo M, Dominguez-Aburto J, Hernandez-Zamora E, Montenegro P, Paredes R, Moreta G, Vinueza R, Villegas F, Mendoza-Benitez S, Guo S, Bozan N, Tos T, Incesulu A, Sennaroglu G, Blanton SH, Ozturkmen-Akay H, Yildirim-Baylan M, Tekin M.

Genet Med. 2016 Apr;18(4):364-71. doi: 10.1038/gim.2015.89. Epub 2015 Jul 30. Erratum in: Genet Med. 2016 Aug;18(8):859.

21.

GJB2 mutations in deaf population of Ilam (Western Iran): a different pattern of mutation distribution.

Mahdieh N, Mahmoudi H, Ahmadzadeh S, Bakhtiyari S.

Eur Arch Otorhinolaryngol. 2016 May;273(5):1161-5. doi: 10.1007/s00405-015-3684-8. Epub 2015 Jun 10.

PMID:
26059209
22.

A case-control study on the association of common variants of CAPN10 gene and the risk of type 2 diabetes in an Iranian population.

Maleki F, Haghani K, Shokouhi S, Mahmoodi K, Sayehmiri K, Mahdieh N, Bakhtiyari S.

Clin Lab. 2014;60(4):663-70.

PMID:
24779302
23.

An overview of mutation detection methods in genetic disorders.

Mahdieh N, Rabbani B.

Iran J Pediatr. 2013 Aug;23(4):375-88. Review.

24.

PCR-ELISA: a diagnostic assay for identifying Iranian HIV seropositives.

Bagheri R, Rabbani B, Mahdieh N, Khanahmad H, Abachi M, Asgari S.

Mol Gen Mikrobiol Virusol. 2013;(3):36-9.

PMID:
24364144
25.

The promise of whole-exome sequencing in medical genetics.

Rabbani B, Tekin M, Mahdieh N.

J Hum Genet. 2014 Jan;59(1):5-15. doi: 10.1038/jhg.2013.114. Epub 2013 Nov 7. Review.

PMID:
24196381
26.

A novel PCBD gene mutation in an Iranian patient with hyperphenylalaninemia.

Raeisi M, Mahdieh N, Yousefzadeh A, Vahidi R, Rahimi N, Zeinali S.

Clin Lab. 2013;59(7-8):925-8.

PMID:
24133926
27.

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.

Int J Pediatr Otorhinolaryngol. 2013 May;77(5):821-6. doi: 10.1016/j.ijporl.2013.02.021. Epub 2013 Mar 21.

PMID:
23523375
28.

21-hydroxylase deficiency: newborn screening in iran?

Mahdieh N, Rabbani B, Rabbani A.

Iran J Pediatr. 2012 Sep;22(3):279-80. No abstract available.

29.

Whole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.

Diaz-Horta O, Duman D, Foster J 2nd, Sırmacı A, Gonzalez M, Mahdieh N, Fotouhi N, Bonyadi M, Cengiz FB, Menendez I, Ulloa RH, Edwards YJ, Züchner S, Blanton S, Tekin M.

PLoS One. 2012;7(11):e50628. doi: 10.1371/journal.pone.0050628. Epub 2012 Nov 30.

30.

A girl with 45,X/46,XX Turner syndrome and salt wasting form of congenital adrenal hyperplasia due to regulatory changes.

Rabbani B, Mahdieh N, Sayarifar F, Ashtiani MT, New M, Parsa A, Akbari MT, Rabbani A.

Clin Lab. 2012;58(9-10):1063-6.

PMID:
23163125
31.

Design of a biological method for rapid detection of presence of PCR inhibitors in aged bone DNA.

Ghasemi A, Mahdieh N, Tavallaei M, Aslani MM, Zafari Z, Shirkavand A, Farzad MS, Naderi M, Azariyan SH, Zeinali S.

Clin Lab. 2012;58(7-8):681-6.

PMID:
22997968
32.

Screening of OTOF mutations in Iran: a novel mutation and review.

Mahdieh N, Shirkavand A, Rabbani B, Tekin M, Akbari B, Akbari MT, Zeinali S.

Int J Pediatr Otorhinolaryngol. 2012 Nov;76(11):1610-5. doi: 10.1016/j.ijporl.2012.07.030. Epub 2012 Aug 18.

PMID:
22906306
33.

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders.

Rabbani B, Mahdieh N, Hosomichi K, Nakaoka H, Inoue I.

J Hum Genet. 2012 Oct;57(10):621-32. doi: 10.1038/jhg.2012.91. Epub 2012 Jul 26. Review.

PMID:
22832387
34.

In silico structural, functional and pathogenicity evaluation of a novel mutation: an overview of HSD3B2 gene mutations.

Rabbani B, Mahdieh N, Haghi Ashtiani MT, Setoodeh A, Rabbani A.

Gene. 2012 Jul 25;503(2):215-21. doi: 10.1016/j.gene.2012.04.080. Epub 2012 May 8.

PMID:
22579964
35.

Mutation analysis of the CYP21A2 gene in the Iranian population.

Rabbani B, Mahdieh N, Ashtiani MT, Larijani B, Akbari MT, New M, Parsa A, Schouten JP, Rabbani A.

Genet Test Mol Biomarkers. 2012 Feb;16(2):82-90. doi: 10.1089/gtmb.2011.0099. Epub 2011 Oct 21.

36.

Molecular Diagnosis of Congenital Adrenal Hyperplasia in Iran: Focusing on CYP21A2 Gene.

Rabbani B, Mahdieh N, Haghi Ashtiani MT, Akbari MT, Rabbani A.

Iran J Pediatr. 2011 Jun;21(2):139-50.

37.

Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant.

Mahdieh N, Rabbani B, Shirkavand A, Bagherian H, Movahed ZS, Fouladi P, Rahiminejad F, Masoudifard M, Akbari MT, Zeinali S.

Genet Test Mol Biomarkers. 2011 Jul-Aug;15(7-8):489-93. doi: 10.1089/gtmb.2010.0145. Epub 2011 Mar 9.

PMID:
21388256
38.

Investigation of GJB6 large deletions in Iranian patients using quantitative real-time PCR.

Mahdieh N, Raeisi M, Shirkavand A, Bagherian H, Akbari MT, Zeinali S.

Clin Lab. 2010;56(9-10):467-71.

PMID:
21086793
39.

Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: implication for genetic counseling.

Mahdieh N, Shirkavand A, Raeisi M, Akbari MT, Tekin M, Zeinali S.

Biochem Biophys Res Commun. 2010 Nov 12;402(2):305-7. doi: 10.1016/j.bbrc.2010.10.021. Epub 2010 Oct 19.

PMID:
20937258
40.

Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.

Mahdieh N, Rabbani B, Wiley S, Akbari MT, Zeinali S.

J Hum Genet. 2010 Oct;55(10):639-48. doi: 10.1038/jhg.2010.96. Epub 2010 Aug 26. Review.

PMID:
20739942
41.

High level of intrafamilial phenotypic variability of non-syndromic hearing loss in a Lur family due to delE120 mutation in GJB2 gene.

Mahdieh N, Bagherian H, Shirkavand A, Sharafi M, Zeinali S.

Int J Pediatr Otorhinolaryngol. 2010 Sep;74(9):1089-91. doi: 10.1016/j.ijporl.2010.06.005. Epub 2010 Jul 6.

PMID:
20609484
42.

Statistical study of 35delG mutation of GJB2 gene: a meta-analysis of carrier frequency.

Mahdieh N, Rabbani B.

Int J Audiol. 2009;48(6):363-70. doi: 10.1080/14992020802607449. Review.

PMID:
19925344
43.

Characterization of minor bands of STR amplification reaction of FVIII gene by PCR cloning.

Rabbani B, Khanahmad H, Bagheri R, Mahdieh N, Zeinali S.

Clin Chim Acta. 2008 Aug;394(1-2):114-5. doi: 10.1016/j.cca.2008.03.003. Epub 2008 Mar 18. No abstract available.

PMID:
18402778
44.

The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia.

Ramazani A, Kahrizi K, Razaghiazar M, Mahdieh N, Koppens P.

Iran Biomed J. 2008 Jan;12(1):49-53.

45.

GJB2 mutations: passage through Iran.

Najmabadi H, Nishimura C, Kahrizi K, Riazalhosseini Y, Malekpour M, Daneshi A, Farhadi M, Mohseni M, Mahdieh N, Ebrahimi A, Bazazzadegan N, Naghavi A, Avenarius M, Arzhangi S, Smith RJ.

Am J Med Genet A. 2005 Mar 1;133A(2):132-7.

PMID:
15666300

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