Publications by authors named "Farshid Parvini"

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Identification of two novel pathogenic mutations in the SKOR2 gene linked to cerebellar hypoplasia and a broad spectrum of neurodevelopmental delay in two Iranian families.
Mohammad Ali Farazi Fard, Zahra Tabatabaei, Mobarakeh Ajam-Hosseini, Pooneh Nikuei, Fatemeh Gila, Farshid Parvini

J Hum Genet· December 2025

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First report of neonatal-onset glutaric aciduria type II in the Iranian population caused by a novel deleterious ETFA variant.
Farshid Parvini, Mobarakeh Ajam-Hosseini, Marziyeh Shadpour

Orphanet J Rare Dis· November 2025

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Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Negar Molaei, Parnian Alagha, Ali Khanbazi, Maryam Beheshtian, Fatemeh Ahangari, Farshid Parvini

Sci Rep· November 2025

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Bi-Allelic Variants in MICU1 Cause Myopathy With Extrapyramidal Signs: Case Series, Phenotypic Spectrum, and Genotype-Phenotype Correlations From 61 Patients.
Pegah Beheshti, Fahimeh Akbarian, Emran Esmaeilzadeh, Hamid Galehdari, Mehdi Khorrami, Farshid Parvini

Clin Genet· September 2025

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Gram-negative bacterial sRNAs encapsulated in OMVs: an emerging class of therapeutic targets in diseases.
Mobarakeh Ajam-Hosseini, Fatemeh Akhoondi, Farshid Parvini, Hossein Fahimi

Front Cell Infect Microbiol· July 2024

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A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum.
Mobarakeh Ajam-Hosseini, Farshid Parvini, Abdolhamid Angaji

BMC Med Genomics· February 2023

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A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss.
Hossein Fahimi, Samira Behroozi, Sadaf Noavar, Farshid Parvini

BMC Med Genomics· February 2021

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A Homozygous Truncating Mutation in Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature.
Amir Hossein Karimi, Mohammad Reza Karimi, Poopak Farnia, Farshid Parvini, Majid Foroutan

Appl Clin Genet· August 2020

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Association of IL-10 gene promoter polymorphisms with susceptibility to pseudoexfoliation syndrome, pseudoexfoliative and primary open-angle glaucoma.
Ghasem Fakhraie, Farshid Parvini, Jalaledin Ghanavi, Shima Saif, Poopak Farnia

BMC Med Genet· February 2020

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TNFα -857 C/T and TNFR2 +587 T/G polymorphisms are associated with cystic fibrosis in Iranian patients.
Maryam Hassanzad, Poopak Farnia, Jalaledin Ghanavi, Farshid Parvini, Shima Saif

Eur J Med Genet· November 2019

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A novel homozygous frame-shift mutation in the SLC29A3 gene: a new case report and review of literature.
Sadaf Noavar, Samira Behroozi, Taraneh Tatarcheh, Farshid Parvini, Majid Foroutan

BMC Med Genet· August 2019

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Dengue viruses and promising envelope protein domain III-based vaccines.
Hossein Fahimi, Mahshid Mohammadipour, Hamed Haddad Kashani, Farshid Parvini, Majid Sadeghizadeh

Appl Microbiol Biotechnol· April 2018

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Transcriptional Analysis of Stearoyl-Acyl Carrier Protein Desaturase Genes from Olive (Olea europaea) in Relation to the Oleic Acid Content of the Virgin Olive Oil.
Farshid Parvini, M Dolores Sicardo, Mehdi Hosseini-Mazinani, José M Martínez-Rivas, M Luisa Hernández

J Agric Food Chem· October 2016

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