Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Fatemeh Hoseininasab"'
Autor:
Nioosha Mostofinezhad, Saeed Reza Ghaffari, Zeinab Barati, Laya Fakhri, Fatemeh Hoseininasab, Faezeh Mohamadhashem, Azadeh Hoseini, Amir Hosein Mahmoudi, Somayeh Darzi Ramandi, Koosha Jalilian, Maryam Rafati, Hosna Amiri
Publikováno v:
Ophthalmic Genetics. 43:262-267
BACKGROUND Next-generation sequencing has been proven to be a reliable method for the detection of genetic causes in heterogeneous ocular disorders. In this report an NGS-based diagnostic approach was taken to uncover the genetic etiology in a patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bf2d57fb2c292793b7d4c075697aec4c
https://doi.org/10.1080/13816810.2021.2002915
https://doi.org/10.1080/13816810.2021.2002915
Autor:
Saeed R. Ghaffari, Maryam Rafati, Mahdi Shadnoush, Shokooh Pourbabaee, Mohammad Aghighi, Siamak Mirab Samiee, Jamshid Kermanchi, Mohammad R. Alaei, Shadab Salehpour, Davoud Amirkashani, Aria Setoodeh, Peymaneh Sarkhail, Reza Shervin Badv, Majid Aminzadeh, Siamak Shiva, Peyman Eshraghi, Hossein Moravej, Mahin Hashemipour, Noushin Rostampour, َAmir Ali Hamidieh, Bibi Shahin Shamsian, Sedigheh Shams, Daniel Zamanfar, Ayoub Ebrahimi, Ali Otadi, Seyedeh Zahra Tara, Zeinab Barati, Laya Fakhri, Azadeh Hoseini, Hosna Amiri, Somayeh Ramandi, Niusha Mostofinezhad, Zahra Pahlevani Kani, Elham Mohammadyari, Mahsa Khosravi, Masoome Saadati, Fatemeh Hoseininasab, Hamid Reza Khorram Khorshid, Younes Modaberisaber
Publikováno v:
Human mutationREFERENCES. 43(4)
Mucopolysaccharidoses (MPSs) are rare, heterogeneous inborn errors of metabolism (IEM) diagnosed through a combination of clinical, biochemical, and genetic investigations. The aim of this study was molecular characterization of the largest cohort of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0435c10f3a5e98cc74a094eba486a8f6
https://pubmed.ncbi.nlm.nih.gov/35005816
https://pubmed.ncbi.nlm.nih.gov/35005816
Autor:
Maryam, Rafati, Faezeh, Mohamadhashem, Koosha, Jalilian, Fatemeh, Hoseininasab, Laya, Fakhri, Azadeh, Hoseini, Hosna, Amiri, Zeinab, Barati, Somayeh, Darzi Ramandi, Nioosha, Mostofinezhad, Amir Hosein, Mahmoudi, Saeed Reza, Ghaffari
Publikováno v:
Ophthalmic genetics. 43(2)
Next-generation sequencing has been proven to be a reliable method for the detection of genetic causes in heterogeneous ocular disorders. In this report an NGS-based diagnostic approach was taken to uncover the genetic etiology in a patient with colo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::1848d75f0961dd0c272abef6047ad21a
https://pubmed.ncbi.nlm.nih.gov/34791963
https://pubmed.ncbi.nlm.nih.gov/34791963
Publikováno v:
Meta Gene. 17:167-171
Purpose Cone-Rod Dystrophies (CRDs) are pigmentary retinopathies predominantly involving the macular cone photoreceptors leading to visual loss at an early age. Mutation analysis, especially in syndromic forms helps with diagnosis and disease managem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b4e8f65dc66b8dbf664c997ded9e9315
https://doi.org/10.1016/j.mgene.2018.06.006
https://doi.org/10.1016/j.mgene.2018.06.006
Autor:
Faezeh Mohamadhashem, Maryam Rafati, S. Rostami, M. Keramatipour, Saeed Reza Ghaffari, R. Tabatabaie, S. Rezai, Fatemeh Hoseininasab
Publikováno v:
Climacteric. 20:498-502
To report a woman with primary ovarian insufficiency (POI) with reciprocal translocation between chromosomes 5 and 13.Chromosomal analysis (G-banding) of a 39-year-old woman with elevated gonadotropin levels and secondary amenorrhea and review of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0971a2bacd0ab2ddc1a4ae376c3e1bf8
https://doi.org/10.1080/13697137.2017.1316255
https://doi.org/10.1080/13697137.2017.1316255
Autor:
Azadeh Hoseini, Faezeh Mohamadhashem, Saeed Reza Ghaffari, Maryam Rafati, Fatemeh Hoseininasab
Publikováno v:
European Journal of Medical Genetics. 59:330-336
"Disorganized Development of Skeletal Component" (DDSC) is a group of genetic skeletal dysplasia, caused by mutations in 9 genes including ACVR1. The most known ACVR1-related disorder is fibrodysplasia ossificans progressiva (FOP). FOP variants are f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25b3db52756b738815c6ac2eafb3da84
https://doi.org/10.1016/j.ejmg.2016.05.007
https://doi.org/10.1016/j.ejmg.2016.05.007