Zobrazeno 1 - 10
of 162
pro vyhledávání: '"Javad Mohammadi‐Asl"'
Autor:
Mostafa Neissi, Adnan Issa Al-Badran, Misagh Mohammadi-Asl, Raed Abdulelah Al-Badran, Motahareh Sheikh-Hosseini, Mojdeh Roghani, Javad Mohammadi-Asl
Publikováno v:
Journal of Rare Diseases, Vol 3, Iss 1, Pp 1-9 (2024)
Abstract Background Niemann-Pick disease type C poses a significant challenge within the landscape of rare genetic disorders, marked by its connection to variants in the NPC1 or NPC2 genes. This autosomal recessive lipid storage disorder unfolds with
Externí odkaz:
https://doaj.org/article/6b7989370270443b8948f18fe9fb778c
Autor:
Mostafa Neissi, Javad Mohammadi-Asl, Misagh Mohammadi-Asl, Mojdeh Roghani, Motahareh Sheikh-Hosseini, Adnan Issa Al-Badran
Publikováno v:
Cell Journal, Vol 26, Iss 6, Pp 392-397 (2024)
This study delves into Usher syndrome type 2 (USH2), an uncommon genetic disorder characterized by sensorineuralhearing loss (HL) and retinitis pigmentosa (RP), often associated with the USH2A gene. Focusing on an Iranian familyexhibiting USH2 sympto
Externí odkaz:
https://doaj.org/article/9660720922d54b10a7849b220925e1ec
Autor:
Mehdi Hashemipour, Ayad Neissi, Mostafa Neissi, Misagh Mohammadi-Asl, Motahareh Sheikh-Hosseini, Sasan Bavi, Mojdeh Roghani, Javad Mohammadi-Asl
Publikováno v:
International Journal of Biomedicine, Vol 14, Iss 2, Pp 352-356 (2024)
Background: Intellectual disabilities encompass a spectrum of neurodevelopmental disorders profoundly impacting an individual's cognitive abilities, adaptive behaviors, and communication skills. This article delves into the complex challenges encount
Externí odkaz:
https://doaj.org/article/b3516dca4eac4955a5646f50a8083e3c
Autor:
Mostafa Neissi, Motahareh Sheikh‐Hosseini, Misagh Mohammadi‐Asl, Adnan Issa Al‐Badran, Mojdeh Roghani, Javad Mohammadi‐Asl, Kamele Jorfi
Publikováno v:
Clinical Case Reports, Vol 12, Iss 10, Pp n/a-n/a (2024)
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 for Leber congenital amaurosis 9 in an Iranian patient. The proband's symptoms—including se
Externí odkaz:
https://doaj.org/article/4518447d5e9049adb1c8fc4f78c59515
Publikováno v:
International Journal of Reproductive BioMedicine, Vol 22, Iss 2, Pp 127-138 (2024)
Abstract Background: Cytogenetics and association studies showed that folate gene polymorphisms can increase the risk of chromosomal nondisjunction and aneuploidies. The folate-metabolizing gene polymorphisms in Down syndrome mothers (DSM) have been
Externí odkaz:
https://doaj.org/article/5505900c8ce3485f9968a888f11bff67
Autor:
Masoud Sabzeghabaiean, Mohsen Maleknia, Javad Mohammadi-Asl, Hashem Kazemi, Fereshteh Golab, Zohreh Zargar, Maryam Naseroleslami
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 25, Iss 1, Pp 1-13 (2024)
Abstract Background Hydrocephalus is one of the most common pathophysiological disabilities with a high mortality rate, which occurs both congenitally and acquired. It is estimated that genetic components are the etiology for up to 40% of hydrocephal
Externí odkaz:
https://doaj.org/article/7f528cce5b4047ea9bda0d3ba1b05c75
Autor:
Mostafa Neissi, Misagh Mohammadi-Asl, Mojdeh Roghani, Adnan Issa Al-Badran, Javad Mohammadi-Asl
Publikováno v:
International Journal of Biomedicine, Vol 14, Iss 1, Pp 165-169 (2024)
Hearing loss, recognized as one of the most prevalent sensory disorders, encompasses both syndromic and non-syndromic manifestations, with the identification of 87 genes and over 100 genetic loci in autosomal recessive non-syndromic hearing loss mark
Externí odkaz:
https://doaj.org/article/e2c6e8b7605f436db0544979fb52c505
Publikováno v:
Iranian Journal of Otorhinolaryngology, Vol 36, Iss 1, Pp 355-360 (2024)
Introduction: Hearing loss (HL) is the most frequent sensory neurodeficiency, affecting a broad spectrum of individuals globally. Within this context, the role of genetic factors takes center stage, particularly in cases of hereditary HL. Case Report
Externí odkaz:
https://doaj.org/article/c368c458bfb044928e0f7fb52c5549de
Autor:
Maryam Mehrabi, Sara Alemohammad, Reza Dashtebozorgi, Maryam Tahmasebi Birgani, Mohammad Reza Hajjari, Javad Mohammadi-Asl
Publikováno v:
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, Vol 31, Iss 6, Pp 6718-6731 (2023)
Introduction: Breast cancer is one of the most common malignancies in women. Treatment with herbal drugs has been considered by researchers due to the lower side effects. Curcumin is a polyphenol extracted from turmeric with confirmed anti-cancer pro
Externí odkaz:
https://doaj.org/article/1ce3536dd76f4a10a89b0d9075f62e11
Publikováno v:
Clinical Case Reports, Vol 12, Iss 3, Pp n/a-n/a (2024)
Key Clinical Message The identification of a novel RP1 gene mutation highlights the importance of precise variant identification for retinitis pigmentosa prognosis and genetic consultations, emphasizing comprehensive genetic analysis for personalized
Externí odkaz:
https://doaj.org/article/733f23a80c5f4c478c38579feaf34e1c