Search Results - "Jafarinia, Ehsan"

Novel variants in critical domains of ATP8A2 and expansion of clinical spectrum by Heidari, Erfan, Harrison, Alexander N., Jafarinia, Ehsan, Tavasoli, Ali Reza, Almadani, Navid, Molday, Robert S., Garshasbi, Masoud

“…ATP8A2 is a P4‐ATPase that flips phosphatidylserine across membranes to generate and maintain transmembrane phospholipid asymmetry. Loss‐of‐function variants…”
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Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome by Bitarafan, Fatemeh, Razmara, Ehsan, Khodaeian, Mehrnoosh, Keramatipour, Mohammad, Kalhor, Alireza, Jafarinia, Ehsan, Garshasbi, Masoud

“…Background Marfan syndrome (MFS) is a multi‐systemic autosomal dominant disease of the connective tissue characterized by the early development of thoracic…”
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Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss by Zardadi, Safoura, Razmara, Ehsan, Asgaritarghi, Golareh, Jafarinia, Ehsan, Bitarafan, Fatemeh, Rayat, Sima, Almadani, Navid, Morovvati, Saeid, Garshasbi, Masoud

“…Background Hereditary hearing loss (HL) is a heterogeneous and most common sensory neural disorder. At least, 76 genes have been reported in association with…”
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A biallelic variant in POLR2C is associated with congenital hearing loss and male infertility: Case report by Bitarafan, Fatemeh, Razmara, Ehsan, Jafarinia, Ehsan, Almadani, Navid, Garshasbi, Masoud

“…Background DNA‐directed RNA polymerase II subunit 3 (RPB3) is the third largest subunit of RNA polymerase II and is encoded by the POLR2C (OMIM:180663). A…”
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A novel variant of ST3GAL3 causes non‐syndromic autosomal recessive intellectual disability in Iranian patients by Farajollahi, Zahra, Razmara, Ehsan, Heidari, Erfan, Jafarinia, Ehsan, Garshasbi, Masoud

“…Background The number of reported genes causing non‐syndromic autosomal recessive intellectual disability (NS‐ARID) is increasing. For example, mutations in…”
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Development of a New Technique for Safety Risk Assessment in Construction Projects Based on Fuzzy Analytic Hierarchy Process by Mahdinia, Mohsen, Yarandi, Mohsen Sadeghi, Jafarinia, Ehsan, Soltanzadeh, Ahmad

“…AbstractThis study follows the fuzzy analytic hierarchy process to develop a semiquantitative technique to assess the safety risk of construction projects…”
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Crystallographic modeling of the PNPT1:c.1453A>G variant as a cause of mitochondrial dysfunction and autosomal recessive deafness; expanding the neuroimaging and clinical features by Hosseini Bereshneh, Ali, Rezaei, Zahra, Jafarinia, Ehsan, Rajabi, Fatemeh, Ashrafi, Mahmoud Reza, Tavasoli, Ali Reza, Garshasbi, Masoud

“…Deficiency of the proteins involved in oxidative phosphorylation (OXPHOS) can lead to mitochondrial dysfunction. Polyribonucleotide nucleotidyltransferase 1…”
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Kabuki Syndrome: Identification of Two Novel Variants in KMT2D and KDM6A by Khodaeian, Mehrnoosh, Jafarinia, Ehsan, Bitarafan, Fatemeh, Shafeii, Shohreh, Almadani, Navid, Daneshmand, Mohammad Ali, Garshasbi, Masoud

“…Kabuki syndrome (KS) is a rare genetic disorder characterized by the following 5 crucial symptoms: dysmorphic facial features, growth retardation, skeletal…”
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Kabuki Syndrome: Identification of Two Novel Variants in KMT2D and KDM6A by Khodaeian, Mehrnoosh, Jafarinia, Ehsan, Bitarafan, Fatemeh, Shafeii, Shohreh, Almadani, Navid, Daneshmand, Mohammad Ali, Garshasbi, Masoud

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