Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Mohammad Reza Pourreza"'
Autor:
Aliasgar Mohammadi, Marziyeh Hoseinzadeh, Sina Narrei, Mohammad Reza Pourreza, Yousof Mohammadi, Mahnaz Norouzi, Ladan Sadeghian, Mohammad Amin Tabatabaiefar
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-8 (2024)
Abstract Background Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous group of disorders of the auditory system. SNHL can occur as a symptom in more than 400 syndromes, and mutations in more than 150 genes can lead to SN
Externí odkaz:
https://doaj.org/article/b98c4e75825f442c92fc2d8bd2454865
Autor:
Zahra Ataei, Zahra Nouri, Farial Tavakoli, Mohammad Reza Pourreza, Sina Narrei, Mohammad Amin Tabatabaiefar
Publikováno v:
PLoS ONE, Vol 18, Iss 2, p e0282304 (2023)
Metachromatic leukodystrophy (MLD) is a neurodegenerative lysosomal storage disease caused by a deficiency in the arylsulfatase A (ARSA). ARSA deficiency leads to sulfatide accumulation, which involves progressive demyelination. The profound impact o
Externí odkaz:
https://doaj.org/article/57f0200876094071a9f6057d8a9ded74
Autor:
Azam Ahmadi Shadmehri, Fahimeh Akbarian, Azadeh Rahimi, Mohammad Reza Pourreza, Mohammad Amin Tabatabaiefar
Publikováno v:
Advanced Biomedical Research, Vol 12, Iss 1, Pp 264-264 (2023)
Background: Recessive disruptive mutations in nucleotide excision repair genes are responsible for a wide range of cutaneous photosensitivity and, in some cases, are associated with multi-system involvement. The heterogeneous nature of these conditio
Externí odkaz:
https://doaj.org/article/6e104514212640ef981b8043a4f3a7e0
Autor:
Aliasgar Mohammadi, Aazam Ahmadi Shadmehri, Mahnaz Taghavi, Gholamhossein Yaghoobi, Mohammad Reza Pourreza, Mohammad Amin Tabatabaiefar
Publikováno v:
Iranian Journal of Basic Medical Sciences, Vol 23, Iss 8, Pp 1020-1027 (2020)
Objective(s): Granular and lattice corneal dystrophies (GCDs & LCDs) are autosomal dominant inherited disorders of the cornea. Due to genetic heterogeneity and large genes, unraveling the mutation is challenging.Materials and Methods: Patients underw
Externí odkaz:
https://doaj.org/article/5de735399d734e05aa45e541be2fe93c
Autor:
Mahtab Khosrofar, Mohammad Reza Pourreza, Samira Asgharzadeh, Parisa Tahmasebi, Elahe Ali Asgari, Reza Ghasemikhah, Nader Saki, Javad Mohammadi-asl, Morteza Hashemzadeh Chaleshtori, Mohammad Amin Tabatabaiefar
Publikováno v:
Majallah-i dānishgāh-i ̒ulūm-i pizishkī-i Arāk, Vol 20, Iss 3, Pp 31-38 (2017)
Abstract Background: Hearing loss (HL) is the most common congenital defect in humans. One or two in thousand newborn babies have prelingual hearing loss. Autosomal recessive non-syndromic hearing loss (ARNSHL) is the most common form of hereditary
Externí odkaz:
https://doaj.org/article/0b6436825bd847978cc57b11e4bf8bbf
Publikováno v:
Iranian Journal of Psychiatry, Vol 12, Iss 3 (2017)
Objective: The human prostacyclin receptor gene (PTGIR) encodes the human prostacyclin (PGI2) receptor. PTGIR is a part of vasodilator system during the migraine attacks and probably has an important role in the mechanism of this disease. Materials a
Externí odkaz:
https://doaj.org/article/f9c3c8ea774b47c890dded8cf152268c
Autor:
Mohammad Reza Pourreza, Hannane Mohammadi, Ladan Sadeghian, Samira Asgharzadeh, Mohammadreza Sehhati, Mohammad Amin Tabatabaiefar
Publikováno v:
Advanced Biomedical Research, Vol 7, Iss 1, Pp 141-141 (2018)
Background: Hearing loss (HL) is a highly prevalent heterogeneous deficiency of sensory-neural system with involvement of several dozen genes. Whole-exome sequencing (WES) is capable of discovering known and novel genes involved with HL. Materials an
Externí odkaz:
https://doaj.org/article/2d315402b9714eda880e30184f734faa
Autor:
Mohammad Hassan Emami, Sina Narrei, Mehrdad Zeinalian, Morteza Hashemzadeh-Chaleshtori, Mohammad Amin Tabatabaiefar, Paniz Miar, Mohammad Reza Pourreza
Purpose Lynch syndrome is the most common hereditary cancer syndromes due to a germline mutation in one of the mismatch-repair (MMR) genes. It results in early-onset colorectal cancer (CRC) and other Lynch-associated cancers in an autosomal dominant
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b635087b76b7d6404842ac62b5e4595f
https://doi.org/10.21203/rs.3.rs-158152/v1
https://doi.org/10.21203/rs.3.rs-158152/v1
Autor:
Mohammad Amin Tabatabaiefar, Mohammad Reza Pourreza, Najmeh Fattahi, Javad Tavakkoly Bazzaz, Reza Sharifi, Shahnaz Zarifi, Mojtaba Darbouy, Azam Ahmadi Shadmehri, Mahboobeh Koohiyan
Publikováno v:
Journal of Cellular Biochemistry. 120:3367-3372
Glutaric acidemia type I (GA-1) is an inborn error of metabolism due to deficiency of glutaryl-CoA dehydrogenase (GCDH), which catalyzes the conversion of glutaryl-CoA to crotonyl-CoA. GA-1 occurs in about 1 in 100 000 infants worldwide. The GCDH gen
Autor:
Mohammad Amin Tabatabaiefar, Hamidreza Abtahi, Morteza Hashemzadeh-Chaleshtori, Mohammad Reza Noori-Daloii, Mohammad Reza Pourreza, Mahbobeh Koohiyan, Somayeh Reiisi, Mansoor Salehi
Publikováno v:
International Journal of Pediatric Otorhinolaryngology. 107:121-126
Objective Hereditary hearing loss (HL) is a noticeable concern in medicine all over the world. On average, 1 in 166 babies born are diagnosed with HL in Iran, which makes it a major public health issue. Autosomal recessive non-syndromic HL (ARNSHL) i