Výsledky vyhledávání - "Fatemeh Golnabi"

Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran

Autor: Pardis Ghazizadeh Tehrani, Mohammad Taheri, Masoume Amini, Mehrdad Hashemi, Maryam Abiri, Razieh Zeinali, Mohammad-Sadegh Fallah, Hossein Farahzadi, Fatemeh Golnabi, Zohreh Sharifi, Hamideh Bagherian, Sadaf Asnavandi, Flora Forouzesh, Sirous Zeinali, Marjan Alborji

Publikováno v: Journal of Molecular Neuroscience. 71:2281-2298

Spinal muscular atrophies (SMAs) are a heterogeneous group of neuromuscular diseases characterized by loss of motor neurons, muscle weakness, hypotonia and muscle atrophy, with different modes of inheritance; however, the survival motor neuron 1 (SMN

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4555c388f4b725a836efb7f9d13af9e8
https://doi.org/10.1007/s12031-020-01789-0

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Development and validation of a novel panel of 16 STR markers for simultaneous diagnosis of β-thalassemia, aneuploidy screening, maternal cell contamination detection and fetal sample authenticity in PND and PGD/PGS cases

Autor: Shirin Ghadami, Sirous Zeinali, Atefeh Joudaki, Fatemeh Golnabi, Yeganeh Keshvar, Zohreh Sharifi, Hossein Farahzadi, Mehdi Shafaat, Ameneh Sarhadi Bandehi, Sanaz Naderi, Maryam Abiri, Rasaneh Yazdani, Faezeh Rahiminejad

Publikováno v: Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)
Scientific Reports

Prenatal diagnosis (PND) may be complicated with sample mix-up; maternal cell contamination, non-paternity and allele drop out at different stages of diagnosis. Aneuploidy screening if combined with PND for a given single gene disorder, can help to d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f46418ba2efbbad4d08e35cb99da4d1
http://link.springer.com/article/10.1038/s41598-019-43892-2

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Molecular Dynamics Simulation of the Consequences of a PYCR1 Mutation (p.Ala189Val) in Patients with Complex Connective Tissue Disorder and Severe Intellectual Disability

Autor: Leila Youssefian, Taghi Baghdadi, Amir Hossein Saeidian, Sirous Zeinali, Jouni Uitto, Hassan Vahidnezhad, Fatemeh Golnabi, Razieh Karamzadeh, Mohammad Vasei, Soheila Sotoudeh

Publikováno v: Journal of Investigative Dermatology. 137:525-528

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2289c695f8d6231bd34b9e80980934c9
https://doi.org/10.1016/j.jid.2016.10.007

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