Publications by authors named "Nejat Mahdieh"

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Comprehensive Iranian guidelines for the diagnosis and management of mitochondrial disorders: an evidence- and consensus-based approach.
Setila Dalili, Noushin Rostampour, Seyedeh Tahereh Mousavi, Saeid Sadeghi Joni, Nejat Mahdieh

Orphanet J Rare Dis· December 2025

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An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl.
Setila Dalili, Seyyedeh Azade Hoseini Nouri, Ameneh Sharifi, Reza Bayat, Saeid Talebi, Nejat Mahdieh

Mol Genet Genomic Med· November 2025

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The role of viruses and molecular markers in the diagnosis and treatment of cancers and rare diseases: challenges and perspectives.
Amirhassan Rabbani, Nejat Mahdieh

Gastroenterol Hepatol Bed Bench· October 2025

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Association of Obstructive Sleep Apnea Syndrome with Leptin Receptor Gene Q223R and K109R Single Nucleotide Polymorphisms in the Iranian Kurdish Population.
Ali Alizadeh Severi, Sharareh Rasouli, Mohammad Abdolsamadi, Fatemeh Safari, Farhad Salari, Nejat Mahdieh

Genet Test Mol Biomarkers· July 2025

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Novel EDARADD Variant in Ectodermal Dysplasia Unveiled by Whole-Exome Sequencing.
Samira Kalayinia, Saranaz Seyed AliAkbar, Amirali Soheili, Ali Rabbani, Tannaz Masoumi, Nejat Mahdieh

Biochem Genet· May 2025

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Reevaluation of the Impact of the Novel Likely Pathogenic Variant c.1286_1288delAGA in the ATP8A2 Gene: A 7-Year Follow-Up With Clinical, Genetic, and ACMG Insights in an Iranian Family.
Samira Kalayinia, Hamed Hesami, Reza Shervin Badv, Maryam Rabbani, Zahra Rezaei, Nejat Mahdieh

Mol Genet Genomic Med· February 2025

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Intrafamilial phenotypic variability due to a missense pathogenic variant in FBP1 gene.
Setila Dalili, Nasrin Sedighi Pirsaraei, Ameneh Sharifi, Alireza Pouryousef, Fatemeh Aghaee, Nejat Mahdieh

Mol Genet Metab Rep· December 2024

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The Association Between the C-Reactive Protein Gene Variants rs1130864 and rs2794521 and Obstructive Sleep Apnea in the Iranian Kurdish Population.
Sharareh Rasouli, Ali Alizadeh Severi, Mohammad Abdolsamadi, Yaser Mohassel, Fatemeh Safari, Nejat Mahdieh

Genet Test Mol Biomarkers· December 2024

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Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the Gene.
Shohreh Maleknejad, Setila Dalili, Ameneh Sharifi, Afagh Hassanzadeh Rad, Reza Bayat, Nejat Mahdieh

Int J Endocrinol· August 2024

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Evaluation of the presence of integrons, sul and smqnr genes and the prevalence of antibiotic resistance in Stenotrophomonas maltophilia clinical isolates.
Maryam Mokhtari Bibalan, Ali Mojtahedi, Nejat Mahdieh, Alireza Jafari, Zahra Atrkar Roushan

Indian J Med Microbiol· June 2024

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Pancreatitis as a Main Consequence of -Related Hypertriglyceridemia: The Role of Nonsense and Frameshift Variants.
Bahareh Rabbani, Mohadeseh Aghli Moghadam, Shiva Esmaeili, Amirhassan Rabbani, Bahman Akbari, Nejat Mahdieh

Int J Genomics· May 2024

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A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies.
Sareh Hosseinpour, Ehsan Razmara, Morteza Heidari, Zahra Rezaei, Mahmoud Reza Ashrafi, Nejat Mahdieh

Brain Dev· April 2024

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The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.
Nejat Mahdieh, Morteza Heidari, Zahra Rezaei, Ali Reza Tavasoli, Sareh Hosseinpour

Hum Genomics· April 2024

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The Association Between the 5-Hydroxytryptamine Receptor 2A Gene Variants rs6311 and rs6313 and Obstructive Sleep Apnea in the Iranian Kurdish Population.
Mohammad Abdolsamadi, Sharareh Rasouli, Ali Alizadeh Severi, Mohammad Reza Khirehgesh, Fatemeh Safari, Nejat Mahdieh

Genet Test Mol Biomarkers· April 2024

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Variants in Iranian patients: A Novel Pathogenic Homozygous Variant Causing Neuronal Ceroid Lipofuscinosis 2.
Nahid Vafaei, Ali Mohebbi, Zahra Rezaei, Morteza Heidari, Sareh Hosseinpour, Nejat Mahdieh

Mol Syndromol· February 2024

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A Mutational Hotspot in The Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of The c.877C>T Variant: A Descriptive Study.
Saeideh Kavousi, Mohammad Dalili, Bahareh Rabbani, Mehrdad Behmanesh, Mehrdad Noruzinia, Nejat Mahdieh

Cell J· January 2024

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Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.
Memoona Ramzan, Duygu Duman, LeShon Chere Peart Hendricks, Shengru Guo, Ahmet Mutlu, Nejat Mahdieh

J Hum Genet· October 2023

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High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
Mahmoudreza Ashrafi, Reyhaneh Kameli, Sareh Hosseinpour, Ehsan Razmara, Zahra Zamani, Mahdieh Soveizi, Nejat Mahdieh

Neurogenetics· October 2023

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Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry.
Mahmoudreza Ashrafi, Reyhaneh Kameli, Sareh Hosseinpour, Ehsan Razmara, Zahra Zamani, Mahdieh Soveizi, Nejat Mahdieh

Neurogenetics· October 2023

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TCAP gene is not a common cause of cardiomyopathy in Iranian patients.
Zahra Alaei, Nasrin Zamani, Bahareh Rabbani, Nejat Mahdieh

Eur J Med Res· September 2023

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COLQ-related congenital myasthenic syndrome: An integrative view.
Tina Eshaghian, Bahareh Rabbani, Reza Shervin Badv, Sahar Mikaeeli, Behdad Gharib, Nejat Mahdieh

Neurogenetics· July 2023

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Expanding the genetic spectrum of giant axonal neuropathy: Two novel variants in Iranian families.
Mahmoud Reza Ashrafi, Ali Zare Dehnavi, Ali Reza Tavasoli, Morteza Heidari, Masoud Ghahvechi Akbari, Nejat Mahdieh

Mol Genet Genomic Med· June 2023

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Determinants of perivascular adipose tissue stranding as a novel imaging marker and its relation to inflammatory biomarker high-sensitivity C-reactive protein.
Hamidreza Pouraliakbar, Abolfazl Abouie, Elham Ziaeifar, Nima Rakhshankhah, Abbas Arjmand Shabestari, Nejat Mahdieh

Pol J Radiol· March 2023

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Neurofibromatosis-Noonan syndrome and growth deficiency in an Iranian girl due to a pathogenic variant in NF1 gene.
Setila Dalili, Seyyedeh Azade Hoseini Nouri, Reza Bayat, Shahin Koohmanaee, Manijeh Tabrizi, Nejat Mahdieh

Hum Genomics· February 2023

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A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1.
Samira Kalayinia, Mohammad Dalili, Maryam Pourirahim, Majid Maleki, Nejat Mahdieh

Eur J Med Res· January 2023

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