Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Saeid Morovvati"'
Autor:
Sima Rayat, Nasim Ramezanidoraki, Nima Kazemi, Mohammad H. Modarressi, Masoumeh Falah, Safoura Zardadi, Saeid Morovvati
Publikováno v:
BMC Cardiovascular Disorders, Vol 22, Iss 1, Pp 1-9 (2022)
Abstract Background Coronary artery disease (CAD) is the most common heart disease. Several studies have shown association between some polymorphism in different genes with CAD. Finding this association can be used in order to early diagnosis and pre
Externí odkaz:
https://doaj.org/article/3aa47ba280404fde85368c446927b64f
Publikováno v:
BMC Medical Genomics, Vol 15, Iss 1, Pp 1-10 (2022)
Abstract Background Transmembrane inner ear (TMIE) protein is an essential component of the mechanotransduction complex. In collaboration with other components, TMIE aids the maintenance and function of the sensory hair cells. Autosomal recessive dea
Externí odkaz:
https://doaj.org/article/e92d8271d23e48c3aef2735fd677ac22
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-7 (2022)
Abstract Background Cystinosis is an autosomal recessive disorder characterized by an accumulation of the amino acid cystine in lysosomes throughout the body. Cystinosis is an inherited disease resulting from the failure of lysosomal cystine transpor
Externí odkaz:
https://doaj.org/article/12736bd39acf401cbffaa39d13a37d72
Publikováno v:
BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)
Abstract Background Early infantile epileptic encephalopathy is a severe form of epilepsy that is genetically extremely heterogeneous and characterized by seizures or spasms at the beginning of infancy. Homozygous or compound heterozygous mutation in
Externí odkaz:
https://doaj.org/article/27aaa8a2068b43deb83a345d70f28bb1
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)
Abstract Background The characteristics of Waardenburg syndrome (WS) as a scarce heritable disorder are sensorineural hearing loss and deficits of pigmentation in the skin, hair, and eye. Here, clinical features and detection of the mutation in the M
Externí odkaz:
https://doaj.org/article/291a0a42e4ec499ab4c321351595360b
Autor:
Safoura Zardadi, Sima Rayat, Maryam Hassani Doabsari, Aliagha Alishiri, Mohammad Keramatipour, Zeynab Javanfekr Shahri, Saeid Morovvati
Publikováno v:
BMC Pediatrics, Vol 21, Iss 1, Pp 1-12 (2021)
Abstract Background Waardenburg syndrome (WS) is a rare genetic disorder. The purpose of this study was to investigate clinical and molecular characteristics of WS in four probands from four different Iranian families. Case presentation The first pat
Externí odkaz:
https://doaj.org/article/9c6c719d81d44197acc4e208dd8e6b43
Publikováno v:
Clinical Case Reports, Vol 10, Iss 3, Pp n/a-n/a (2022)
Abstract This investigation revealed a homozygous c.5069‐1G>C variation in TENM3 gene although has not been reported for its pathogenicity and can be considered as a novel mutation. The present finding can be used for genetic diagnosis and detectio
Externí odkaz:
https://doaj.org/article/288e9245c29944f7bf4d28c6b26458f6
Publikováno v:
International Journal of Basic Science in Medicine, Vol 5, Iss 3, Pp 96-100 (2020)
Introduction: Coronary artery diseases (CAD) are still among the top causes of death in most populations. The polymorphisms of the cholesteryl ester transfer protein (CETP) gene can influence the risk of CAD through modulating cholesterol metabolism.
Externí odkaz:
https://doaj.org/article/beef3493dd88489586d0276bb61b7216
Autor:
Sima Rayat, Saeid Morovvati
Publikováno v:
Clinical Case Reports, Vol 9, Iss 9, Pp n/a-n/a (2021)
Abstract Our findings revealed the mutation c.536T>C (p. Leu179Pro) in GCDH gene although has not been reported so far, but the in‐silico analysis and clinical symptoms of the patient indicated that the mutation is pathogenic full stop. Also, it ca
Externí odkaz:
https://doaj.org/article/eefd7515ac5e41b6a225721ccd01c980
Autor:
Marzieh Rahbaran, Maryam Hassani Doabsari, Simindokht Salavitabar, Neda Mokhberian, Ziba Morovvati, Saeid Morovvati
Publikováno v:
Cellular & Molecular Biology Letters, Vol 24, Iss 1, Pp 1-8 (2019)
Abstract Purpose Ectodermal dysplasias are characterized by developmental abnormalities in ectodermal structures. Hypohidrotic ectodermal dysplasias (HED) are the most common subtype. They are most commonly inherited via X-linked recessive routes. We
Externí odkaz:
https://doaj.org/article/41baa1c3fec74390b0eca820f9c5c84a