Výsledky vyhledávání - "Faezeh Rahiminejad"

Akademický článek

A decade of molecular preimplantation genetic diagnosis of 350 blastomeres for beta-thalassemia combined with HLA typing, aneuploidy screening and sex selection in Iran

Autor: Yeganeh Keshvar, Solmaz Sabeghi, Zohreh Sharifi, Kiyana Sadat Fatemi, Panti Fouladi, Shahrzad Younesi Khah, Faezeh Rahiminejad, Atefeh Joudaki, Masoume Amini, Hamideh Bagherian, Marefat Ghaffari Novin, Mansoureh Movahedin, Marzieh Mojbafan, Sirous Zeinali

Publikováno v: BMC Pregnancy and Childbirth, Vol 22, Iss 1, Pp 1-7 (2022)

Abstract Background Preimplantation genetic diagnosis (PGD) has been developed to detect genetic disorders before pregnancy which is usually done on blastomeres biopsied from 8-cell stage embryos obtained from in vitro fertilization method (IVF). Her

Externí odkaz: https://doaj.org/article/21363afe98e74915b267e691cd93b675

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Akademický článek

Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report

Autor: Marzieh Mojbafan, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Seyed Hasan Tonekaboni, Sirous Zeinali

Publikováno v: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)

Abstract Background Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive mitochondrial disorder which is caused by mutation in mitochondrial calcium uptake 1 (MICU1) gene located on chromosome 10q22.1. Next Generation Sequencing (NGS)

Externí odkaz: https://doaj.org/article/4167086f9e1a40228260b97eab9a27f5

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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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The Spectrum of Pathogenic Variants in Iranian Families with Hemophilia A

Autor: Sarah Azadmehr, Faezeh Rahiminejad, Fatemeh Zafarghandi Motlagh, Mojdeh Jamali, Pardis Ghazizadeh Tehrani, Tina Shirzadeh, Hamideh Bagherian, Morteza Karimipoor, Elham Davoudi-Dehaghani, Sirous Zeinali

Publikováno v: Archives of Iranian medicine. 24(12)

Background: Hemophilia A (HA) is an X-linked recessive bleeding disorder with a high rate of genetic heterogeneity. The present study was conducted on a large cohort of Iranian HA patients and data obtained from databases. Methods: A total of 622 Ira

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9e2dbddcd4adc891975585c7f7112c5
https://pubmed.ncbi.nlm.nih.gov/35014236

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Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report

Autor: Sirous Zeinali, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Marzieh Mojbafan, Seyed Hasan Tonekaboni

Publikováno v: BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
BMC Medical Genetics

Background Myopathy with extrapyramidal signs (MPXPS) is an autosomal recessive mitochondrial disorder which is caused by mutation in mitochondrial calcium uptake 1 (MICU1) gene located on chromosome 10q22.1. Next Generation Sequencing (NGS) technolo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abc863ec15a77fc2151a1d951508138c
https://doi.org/10.1186/s12881-020-01016-y

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Additional file 1 of Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report

Autor: Mojbafan, Marzieh, Somayeh Takrim Nojehdeh, Faezeh Rahiminejad, Yalda Nilipour, Tonekaboni, Seyed Hasan, Sirous Zeinali

Additional file 1. Sequencing data.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5aa5cfe458866a2e8d3c8976fe1b3880

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Impact of consanguineous marriages in GJB2-related hearing loss in the Iranian population: a report of a novel variant

Autor: Mohammad Esmaeil Akbari, Masoumeh Masoudifard, Paanti Fouladi, zahra shahab movahed, Hamideh Bagherian, Bahareh Rabbani, Atefeh Shirkavand, Faezeh Rahiminejad, Nejat Mahdieh, Sirous Zeinali

Publikováno v: Genetic testing and molecular biomarkers. 15(7-8)

Mutations in GJB2 and GJB6 genes are the main causes of autosomal recessive nonsyndromic hearing loss (ARNSHL) in many populations. Here, we investigated GJB2 and GJB6 mutations in 114 patients from 77 affected ARNSHL families including 54 consanguin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3cf500cd7a3888f83764d458ad8fd76c
https://pubmed.ncbi.nlm.nih.gov/21388256

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