Zobrazeno 1 - 7 of 7 pro vyhledávání: '"Aliasgar Mohammadi"'
1
Akademický článek
Identification of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family
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
Zobrazit plný text záznamu
2
Akademický článek
A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review
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
Zobrazit plný text záznamu
3
Akademický článek
Molecular genetic study in a cohort of Iranian families suspected to maturity-onset diabetes of the young, reveals a recurrent mutation and a high-risk variant in the CEL gene
Autor: Akram Sarmadi, Aliasgar Mohammadi, Fatemeh Tabatabaei, Zahra Nouri, Morteza Hashemzadeh Chaleshtori, Mohammad Amin Tabatabaiefar
Publikováno v: Advanced Biomedical Research, Vol 9, Iss 1, Pp 25-25 (2020)
Background: Diabetes mellitus (DM) is a group of metabolic disorders in the body, accompanied with increasing blood sugar levels. Diabetes is classified into three groups: Type 1 DM (T1DM), Type 2 DM (T2DM), and monogenic diabetes. Maturity-onset dia
Externí odkaz: https://doaj.org/article/a85b13760df5402db45ec18f016876aa
Zobrazit plný text záznamu
4
Akademický článek
Genetic Study of Hepatocyte Nuclear Factor 1 Alpha Variants in Development of Early-Onset Diabetes Type 2 and Maturity-Onset Diabetes of the Young 3 in Iran
Autor: Aliasgar Mohammadi, Ameneh Eskandari, Akram Sarmadi, Mehrali Rahimi, Bijan Iraj, Mahin Hashemipour, Morteza Hashmezadeh Chaleshtori, Mohammad Amin Tabatabaiefar
Publikováno v: Advanced Biomedical Research, Vol 8, Iss 1, Pp 55-55 (2019)
Background: Maturity-onset diabetes of the young (MODY) is a clinically and genetically heterogeneous group of diabetes characterized by noninsulin-dependent, autosomal-dominant disorder with strong familial history, early age of onset, and pancreati
Externí odkaz: https://doaj.org/article/fbf233f2964c4b0fb9d1101255d519f5
Zobrazit plný text záznamu
5
A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred
Autor: Javad Mohammadi-Asl, Sima Mozafar-Jalali, Aliasgar Mohammadi, Mohammad Amin Tabatabaiefar, Ameneh Eskandari, Mohammad Reza Pourreza
Publikováno v: Journal of Dermatological Science. 88:134-138
Background Nail disorder nonsyndromic congenital (NDNC) is a very rare clinically and genetically heterogeneous disease inherited both in recessive or dominant modes. FZD6 is a component of Wnt-FZD signaling pathway in which recessive loss-of-functio
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2175431c7645ca2dfec6fd2875553572
https://doi.org/10.1016/j.jdermsci.2017.04.017
Zobrazit plný text záznamu
6
Molecular genetic study in a cohort of Iranian families suspected to maturity-onset diabetes of the young, reveals a recurrent mutation and a high-risk variant in the CEL gene
Autor: Mohammad Amin Tabatabaiefar, Zahra Nouri, Morteza Hashemzadeh Chaleshtori, Akram Sarmadi, Aliasgar Mohammadi, Fatemeh Tabatabaei
Publikováno v: Advanced Biomedical Research, Vol 9, Iss 1, Pp 25-25 (2020)
Advanced Biomedical Research
Background: Diabetes mellitus (DM) is a group of metabolic disorders in the body, accompanied with increasing blood sugar levels. Diabetes is classified into three groups: Type 1 DM (T1DM), Type 2 DM (T2DM), and monogenic diabetes. Maturity-onset dia
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9917bbce7f7c6f7ee0ba4be070be3f05
http://www.advbiores.net/article.asp?issn=2277-9175
Zobrazit plný text záznamu
7
Genetic Study of Hepatocyte Nuclear Factor 1 Alpha Variants in Development of Early-Onset Diabetes Type 2 and Maturity-Onset Diabetes of the Young 3 in Iran
Autor: Akram Sarmadi, Mehrali Rahimi, Bijan Iraj, Mahin Hashemipour, Aliasgar Mohammadi, Ameneh Eskandari, Morteza Hashmezadeh Chaleshtori, Mohammad Amin Tabatabaiefar
Publikováno v: Advanced Biomedical Research, Vol 8, Iss 1, Pp 55-55 (2019)
Advanced Biomedical Research
Background: Maturity-onset diabetes of the young (MODY) is a clinically and genetically heterogeneous group of diabetes characterized by noninsulin-dependent, autosomal-dominant disorder with strong familial history, early age of onset, and pancreati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::053c0f9012b35adeff53b7cbf6d0899d
http://www.advbiores.net/article.asp?issn=2277-9175
Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání

Omezení vyhledávání
Plný text Recenzováno Digitální knihovna AV ČR
Zdroje