Search Results - "Mostafa Neissi"

Mutation Detection in MYO15A Gene in an Iranian Family with Non-Syndromic Hearing Loss by Mostafa Neissi, Mostafa Neissi, Mohammadi-Asl, Misagh, Roghani, Mojdeh, Al-Badran, Adnan, Mohammadi-Asl, Javad

“…Hearing loss, recognized as one of the most prevalent sensory disorders, encompasses both syndromic and non-syndromic manifestations, with the identification…”
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Mutational spectrum of the AP3B1 gene in an Iraqi family affected with Hermansky-Pudlak syndrome type 2 by Neissi, Mostafa, Al-Badran, Adnan Issa

“…Background Hermansky-Pudlak syndrome type 2 (HPS2) is a rare autosomal recessive inherited disease present with partial oculocutaneous albinism, nystagmus,…”
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A Novel Deleterious MYO15A Gene Mutation Causes Nonsyndromic Hearing Loss by Neissi, Mostafa, Al-Badran, Adnan Issa, Mohammadi-Asl, Javad

“…Hearing loss (HL) is the most frequent sensory neurodeficiency, affecting a broad spectrum of individuals globally. Within this context, the role of genetic…”
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Usher Syndrome Type 2 in An Iranian Family: A Novel Founder Variation in The USH2A Gene by Neissi, Mostafa, Mohammadi-Asl, Javad, Mohammadi-Asl, Misagh, Roghani, Mojdeh, Sheikh-Hosseini, Motahareh, Issa Al-Badran, Adnan

“…This study delves into Usher syndrome type 2 (USH2), an uncommon genetic disorder characterized by sensorineural hearing loss (HL) and retinitis pigmentosa…”
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Retinitis pigmentosa‐1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation by Neissi, Mostafa, Sheikh‐Hosseini, Motahareh, Mohammadi‐Asl, Javad

“…Key Clinical Message The identification of a novel RP1 gene mutation highlights the importance of precise variant identification for retinitis pigmentosa…”
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A Novel Disease-Causing ASPA Gene Mutation (c.432+1 G>C) in an Iranian Patient with Canavan Disease: A Case Report by Neissi, Mostafa, Sheikh-Hosseini, Motahareh, Mohammadi-Asl, Javad

“…Canavan disease is an autosomal recessive genetic disease and rare fatal childhood neurological disorder caused by mutations in the ASPA gene, which resulted…”
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Exome sequencing identifies a novel GUCY2D mutation in an Iranian family with Leber congenital amaurosis-1: a case report by Neissi, Mostafa, Al-Badran, Adnan Issa, Mohammadi-Asl, Javad

“…Background Leber congenital amaurosis (LCA), the severe form of inherited retinal degenerative disorder, is a prevalent disorder in the first year of life…”
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AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report by Neissi, Mostafa, Mabudi, Hadideh, Mohammadi‐Asl, Javad

“…This point of detected mutation could be considered as a novel mutational hotspot point that carried in patient ancestors. Moreover, the obtained results and…”
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A Novel SLC9A6 Mutation Associated with Christianson Syndrome in a Non-Consanguineous Iranian Family: A Case Report by Mehdi Hashemipour, Mostafa Neissi, Mahsa Rashid, Karim Sevari, Motahareh Sheikh-Hosseini, Adnan Issa Al-Badran

“…Introduction: Christianson syndrome is a neurological disorder characterized by recurrent seizures resulting from abnormal brain neuron discharge. Primarily…”
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A novel missense mutation in PLEKHG5 gene causing an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease in an Iraqi family by Neissi, Mostafa, Mabudi, Hadideh, Al-Badran, Adnan Issa, Mohammadi-Asl, Javad, Al-Badran, Raed Abdulelah

“…Background Charcot-Marie-Tooth disease comprises a large spectrum of clinically heterogeneous disorders. PLEKHG5 variants have shown an intermediate form of…”
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A novel heterozygous TPM2 gene mutation in an Iranian family affected by distal arthrogryposis type 1: a case report by Neissi, Mostafa, Sheikh-Hosseini, Motahareh, Mohammadi-Asl, Javad, Al-Badran, Adnan Issa

“…Background Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders characterized by congenital contractures of the distal…”
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Unveiling a Novel THOC2 Mutation's Role in X-linked Intellectual Disability by Mehdi Hashemipour, Ayad Neissi, Mostafa Neissi, Misagh Mohammadi-Asl, Motahareh Sheikh-Hosseini, Sasan Bavi, Mojdeh Roghani, Javad Mohammadi-Asl

“…Background: Intellectual disabilities encompass a spectrum of neurodevelopmental disorders profoundly impacting an individual's cognitive abilities, adaptive…”
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Identification and characterization of NMNAT1 gene mutations in an Iranian patient with Leber congenital amaurosis 9 by Neissi, Mostafa, Sheikh‐Hosseini, Motahareh, Mohammadi‐Asl, Misagh, Al‐Badran, Adnan Issa, Roghani, Mojdeh, Mohammadi‐Asl, Javad, Jorfi, Kamele

“…Key Clinical Message The discovery of compound heterozygous NMNAT1 mutations (c.245T>C; p.Val82Ala and c.575A>G; p.Asp192Gly) provides a genetic explanation…”
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Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant by Neissi, Mostafa, Al-Badran, Adnan Issa, Mohammadi-Asl, Misagh, Al-Badran, Raed Abdulelah, Sheikh-Hosseini, Motahareh, Roghani, Mojdeh, Mohammadi-Asl, Javad

“…Background Niemann-Pick disease type C poses a significant challenge within the landscape of rare genetic disorders, marked by its connection to variants in…”
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Detection of an FYCO1 nonsense mutation in an affected patient with autosomal recessive cataract : a case report by Al-Badran, Raed Abdulelah, Al-Badran, Adnan Issa, Mabudi, Hadideh, Neissi, Mostafa, Mohammadi-Asl, Javad

“…Background Autosomal recessive cataract (CTRCT18) is a rare type of congenital cataract that develops to complete and lifelong childhood blindness. This…”
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Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss by Mohammadi-Asl, Javad, Saki, Nader, Dehdashtiyan, Masoud, Neissi, Mostafa, Ghanbari Mardasi, Farideh

“…Sensorineural hearing loss is the most frequent type of hearing impairment in the human population. Genetic factors account for over 60% of hearing loss in…”
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Homozygous LOXHD1 Nonsense Mutation (c.1787G>A; p.W596X) is Associated with Hearing Loss in an Iranian Family: A Case Report by Neissi, Mostafa, Abdulzahra, Husham, Sheikh-Hosseini, Motahareh, Mabudi, Hadideh, Mohammadi-Asl, Javad, Al-Badran, Raed

“…Hereditary hearing loss is the most common sensory neural disorder, which has been revealed to have high genetic heterogeneity. Herein, we aimed to figure out…”
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Homozygous AHI1 gene mutation (c.1213A>C; Thr405Pro) leads to Joubert syndrome in a consanguineous Iranian family: A case report by Neissi, Mostafa, Issa Al-Badran, Adnan, Mohammadi-Asl, Javad

“…Joubert syndrome (JS) is an autosomal recessive (AR) neurological disorder primarily characterized by aplasia/hypoplasia of the cerebellar vermis, retinal…”
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Joubert syndrome caused by a TMEM67 mutation: Genotype-phenotype analysis by Neissi, Mostafa, Misagh Mohammadi-Asl, Mojdeh Roghani, Issa Al-Badran, Adnan, Motahareh Sheikh-Hosseini, Mohammadi-Asl, Javad

“…Joubert syndrome (JS), a rare neurodevelopmental disorder, is characterized by a unique midbrain- hindbrain malformation known as the molar tooth sign, a…”
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Retinitis pigmentosa-1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation by Neissi, Mostafa, Sheikh-Hosseini, Motahareh, Mohammadi-Asl, Javad

“…Key Clinical MessageThe identification of a novel RP1 gene mutation highlights the importance of precise variant identification for retinitis pigmentosa…”
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