Nejat Mahdieh

ResearcherID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 24

Top Topics

Genome Wide Association

Congenital Heart Disease

Top Venues

International journal of genomics

International journal of endocrinology

Journal of clinical laboratory analysis

This page only lists publications with an associated author ORCID identifier.

Publications

Saeideh Kavousi, Mohammad Dalili, Bahareh Rabbani, Mehrdad Behmanesh, Mehrdad Noruzinia, Nejat Mahdieh
A Mutational Hotspot in The LAMP2 Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of The c.877C>T Variant: A Descriptive Study. Cell journal 26 (1) (2024)
Bahareh Rabbani, Mohadeseh Aghli Moghadam, Shiva Esmaeili, Amirhassan Rabbani, Bahman Akbari, Nejat Mahdieh
Pancreatitis as a Main Consequence of APOC2 -Related Hypertriglyceridemia: The Role of Nonsense and Frameshift Variants. International journal of genomics 2024 (2024)
Bahareh Rabbani, Mohadeseh Aghli Moghadam, Shiva Esmaeili, Amirhassan Rabbani, Bahman Akbari, Nejat Mahdieh
Pancreatitis as a Main Consequence of APOC2 -Related Hypertriglyceridemia: The Role of Nonsense and Frameshift Variants. International journal of genomics 2024 (2024)
Shohreh Maleknejad, Setila Dalili, Ameneh Sharifi, Afagh Hassanzadeh Rad, Reza Bayat, Bahareh Rabbani, Nejat Mahdieh
Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene. International journal of endocrinology 2024 (2024)
Shohreh Maleknejad, Setila Dalili, Ameneh Sharifi, Afagh Hassanzadeh Rad, Reza Bayat, Bahareh Rabbani, Nejat Mahdieh
Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene. International journal of endocrinology 2024 (2024)
Saeideh Kavousi, Mohammad Dalili, Bahareh Rabbani, Mehrdad Behmanesh, Mehrdad Noruzinia, Nejat Mahdieh
A Mutational Hotspot in The LAMP2 Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of The c.877C>T Variant: A Descriptive Study. Cell journal 26 (1) (2024)
Bahareh Rabbani, Mohadeseh Aghli Moghadam, Shiva Esmaeili, Amirhassan Rabbani, Bahman Akbari, Nejat Mahdieh
Pancreatitis as a Main Consequence of APOC2 -Related Hypertriglyceridemia: The Role of Nonsense and Frameshift Variants. International journal of genomics 2024 (2024)
Mohammad Abdolsamadi, Sharareh Rasouli, Ali Alizadeh Severi, Mohammad Reza Khirehgesh, Fatemeh Safari, Nejat Mahdieh, Habibolah Khazaie, Bijan Soleymani, Bahman Akbari
The Association Between the 5-Hydroxytryptamine Receptor 2A Gene Variants rs6311 and rs6313 and Obstructive Sleep Apnea in the Iranian Kurdish Population. Genetic testing and molecular biomarkers 28 (4) (2024)
Mohammad Abdolsamadi, Sharareh Rasouli, Ali Alizadeh Severi, Mohammad Reza Khirehgesh, Fatemeh Safari, Nejat Mahdieh, Habibolah Khazaie, Bijan Soleymani, Bahman Akbari
The Association Between the 5-Hydroxytryptamine Receptor 2A Gene Variants rs6311 and rs6313 and Obstructive Sleep Apnea in the Iranian Kurdish Population. Genetic testing and molecular biomarkers 28 (4) (2024)
Bahareh Rabbani, Mohadeseh Aghli Moghadam, Shiva Esmaeili, Amirhassan Rabbani, Bahman Akbari, Nejat Mahdieh
Pancreatitis as a Main Consequence of APOC2 -Related Hypertriglyceridemia: The Role of Nonsense and Frameshift Variants. International journal of genomics 2024 (2024)
Tina Eshaghian, Bahareh Rabbani, Reza Shervin Badv, Sahar Mikaeeli, Behdad Gharib, Stanley Iyadurai, Nejat Mahdieh
COLQ-related congenital myasthenic syndrome: An integrative view. Neurogenetics (2023)
Mahmoud Reza Ashrafi, Pouria Mohammadi, Ali Reza Tavasoli, Morteza Heidari, Sareh Hosseinpour, Maryam Rasulinejad, Mohammad Rohani, Masoud Ghahvechi Akbari, Reza Azizi Malamiri, Reza Shervin Badv, Davood Fathi, Ali Zare Dehnavi, Shahram Savad, Ali Rabbani, Matthis Synofzik, Nejat Mahdieh, Zahra Rezaei
Clinical and Molecular Findings of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay: an Iranian Case Series Expanding the Genetic and Neuroimaging Spectra. Cerebellum (London, England) (2022)
Samira Kalayinia, Majid Maleki, Mohammad Mahdavi, Nejat Mahdieh
Whole-Exome Sequencing Reveals a Novel Mutation of FLNA Gene in an Iranian Family with Nonsyndromic Tetralogy of Fallot. Laboratory medicine 52 (6) (2022)
Pouria Mohammadi, Morteza Heidari, Mahmoud Reza Ashrafi, Nejat Mahdieh, Masoud Garshasbi
A novel homozygous missense variant in the NAXE gene in an Iranian family with progressive encephalopathy with brain edema and leukoencephalopathy. Acta neurologica Belgica (2021)
Bahareh Rabbani, Mohammadrafi Khorgami, Mohammad Dalili, Nasrin Zamani, Nejat Mahdieh, Michael H Gollob
Novel cases of pediatric sudden cardiac death secondary to TRDN mutations presenting as long QT syndrome at rest and catecholaminergic polymorphic ventricular tachycardia during exercise: The TRDN arrhythmia syndrome. American journal of medical genetics. Part A 185 (11) (2021)
Samira Kalayinia, Saeed Talebi, Mohammad Miryounesi, Peymaneh Sarkhail, Nejat Mahdieh
An Iranian Congenital Adrenal Hypoplasia Patient with Elevated Testosterone in Infancy due to a Novel Pathogenic Frameshift Variant in NR0B1 . International journal of endocrinology 2021 (2021)
Ameneh Sharifi, Nejat Mahdieh
HBB mutations and HbA2 level: Escaping the carrier screening programs. Clinical case reports 9 (2) (2020)
Pouria Mohammadi, Mohammad Ali Daneshmand, Nejat Mahdieh, Mahmoud Reza Ashrafi, Morteza Heidari, Masoud Garshasbi
Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy. Acta neurologica Belgica 121 (1) (2020)
Setilla Dalili, Bahareh Rabbani, Afagh Hassanzadeh Rad, Shaahin Koohmanaee, Nejat Mahdieh
A novel pathogenic variant of SRD5A2 in an Iranian psuedohermaphrodite male. Clinical case reports 8 (10) (2020)
Samira Kalayinia, Serwa Ghasemi, Nejat Mahdieh
A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease. Journal of cardiovascular and thoracic research 11 (4) (2019)
Zahra Rezaei, Sareh Hosseinpour, Mahmoud Reza Ashrafi, Nejat Mahdieh, Houman Alizadeh, Masoud Mohammadpour, Nahideh Khosroshahi, Man Amanat, Ali Reza Tavasoli
Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients. Neuropediatrics 50 (2) (2019)
Samira Kalayinia, Majid Maleki, Mohammad Mahdavi, Nejat Mahdieh
A novel de novo dominant mutation of NOTCH1 gene in an Iranian family with non-syndromic congenital heart disease. Journal of clinical laboratory analysis 34 (4) (2019)
Samira Kalayinia, Majid Maleki, Hassan Rokni-Zadeh, Majid Changi-Ashtiani, Hassan Ahangar, Alireza Biglari, Tina Shahani, Nejat Mahdieh
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. Journal of clinical laboratory analysis 33 (7) (2019)
Samira Kalayinia, Tina Shahani, Alireza Biglari, Majid Maleki, Hassan Rokni-Zadeh, Zahra Razavi, Nejat Mahdieh
Mosaic trisomy 22 in a 4-year-old boy with congenital heart disease and general hypotrophy: A case report. Journal of clinical laboratory analysis 33 (2) (2018)