Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Farah Talebi"'
Publikováno v:
Cell Journal, Vol 23, Iss 5, Pp 598-602 (2021)
In this study, we describe one Iranian patient who was diagnosed with Epidermolysis Bullosa (EB) because of mutations in three candidate genes, including 3 mutations. Two missense mutations in the LAMA3 (D3134H) and LAMB3 (Y339H) genes and also, a sy
Externí odkaz:
https://doaj.org/article/6c7b457e830a4806a700491d2da2d330
Publikováno v:
Acta Medica Iranica, Vol 58, Iss 6 (2020)
Cone-rod dystrophy (CORD) is one of the most common genetic eye disorders. Recent genetic studies have demonstrated that it is a genetically heterogeneous disease among patients. Molecular genetic analysis of the 22 genes was performed in a family wi
Externí odkaz:
https://doaj.org/article/8293e8cd6c39462e8e1d64e09e5b0160
Autor:
Farah Talebi, Farideh Ghanbari Mardasi, Javad Mohammadi Asl, Saeed Tizno, Marziyeh Najafvand Zadeh
Publikováno v:
Cell Journal, Vol 20, Iss 1, Pp 127-131 (2018)
Autosomal recessive non-syndromic hearing loss (ARNSHL) is defined as a genetically heterogeneous disorder. The aim of the present study was to screen for pathogenic variants in an Iranian pedigree with ARNSHL. Next-generation targeted sequencing of
Externí odkaz:
https://doaj.org/article/76329ade61ca404da62e6cbb3015fe6e
Publikováno v:
Cell Journal, Vol 20, Iss 2, Pp 290-292 (2018)
Norrie disease (ND) is a rare X-linked recessive disorder, which is characterized by congenital blindness and, in several cases, accompanied with mental retardation and deafness. ND is caused by mutations in NDP, located on the proximal short arm of
Externí odkaz:
https://doaj.org/article/56614344780c46a3bc591fc55947e872
Publikováno v:
Acta Medica Iranica, Vol 58, Iss 6 (2020)
Cone-rod dystrophy (CORD) is one of the most common genetic eye disorders. Recent genetic studies have demonstrated that it is a genetically heterogeneous disease among patients. Molecular genetic analysis of the 22 genes was performed in a family wi
Autor:
Seyed Nezhad Reza, Fatemeh Abdollahnejad, Ladan Sadeghian, Zahra Alavi, Morteza Chaleshtori Hashemzadeh, Parisa Tahmasebi, Mohammad Tabatabaiefar Amin, Farah Talebi, Nader Saki, Javad Mohammadi-Asl
Publikováno v:
Genetika, Vol 50, Iss 3, Pp 837-846 (2018)
Hearing loss is caused both by genetic and environmental factors. In this sense, more than half of the cases are genetic. Hereditary hearing loss is divided into syndromic and non-syndromic cases. Main pattern of inheritance (80%) in non-syndromic ca
Publikováno v:
Canadian Journal of Ophthalmology. 53:e87-e89
Publikováno v:
International journal of pediatric otorhinolaryngology. 103
Objectives Hearing impairment is the most common sensorineural disorder and is genetically heterogeneous. Identification of the pathogenic mutations underlying hearing impairment is difficult, since causative mutations in 127 different genes have so
Autor:
Saeed Tizno, Farideh Ghanbari Mardasi, Farah Talebi, Javad Mohammadi Asl, Amir Hooshang Bavarsad
Publikováno v:
International journal of pediatric otorhinolaryngology. 97
Lacrimo-auriculo-dento-digital syndrome (LADD) is a multiple congenital anomaly and a genetically heterogeneous disorder. The aim of this study was to identify the pathogenic gene in an Iranian family with LADD syndrome and review the literature on r
Publikováno v:
Zahedan Journal of Researches in Medical Sciences, Vol 18, Iss 10 (2016)
Background Hearing loss is one of the most common sensory disorders, which can be syndromic and non-syndromic. So far, 61 genes and more than 100 genetic loci have been identified in ARNSHL. Materials and Methods In this case report study, in order t