Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Fatemeh, Peymani"'
Autor:
Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee, Raheleh Vazehan, Fatemeh Ahangari, Shima Dehdahsi, Mehrshid Faraji Zonooz, Elham Parsimehr, Zahra Kalhor, Fatemeh Peymani, Maryam Mozaffarpour Nouri, Mojgan Babanejad, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Fariba Afroozan, Hilda Yazdan, Bita Bozorgmehr, Azita Azarkeivan, Shokouh Sadat Mahdavi, Pooneh Nikuei, Farzad Fatehi, Payman Jamali, Mahmoud Reza Ashrafi, Parvaneh Karimzadeh, Haleh Habibi, Kimia Kahrizi, Shahriar Nafissi, Ariana Kariminejad, Hossein Najmabadi
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-11 (2024)
Abstract Next-generation sequencing (NGS) has been proven to be one of the most powerful diagnostic tools for rare Mendelian disorders. Several studies on the clinical application of NGS in unselected cohorts of Middle Eastern patients have reported
Externí odkaz:
https://doaj.org/article/d0de56f0485d43639ba3ed001723c22f
Autor:
Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee, Raheleh Vazehan, Fatemeh Ahangari, Shima Dehdahsi, Mehrshid Faraji Zonooz, Elham Parsimehr, Zahra Kalhor, Fatemeh Peymani, Maryam Mozaffarpour Nouri, Mojgan Babanejad, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Fariba Afroozan, Hilda Yazdan, Bita Bozorgmehr, Azita Azarkeivan, Shokouh Sadat Mahdavi, Pooneh Nikuei, Farzad Fatehi, Payman Jamali, Mahmoud Reza Ashrafi, Parvaneh Karimzadeh, Haleh Habibi, Kimia Kahrizi, Shahriar Nafissi, Ariana Kariminejad, Hossein Najmabadi
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101510- (2024)
Externí odkaz:
https://doaj.org/article/2b6cd8a2516d4c7dba834e7f5dd8bf1b
Publikováno v:
Pediatric Investigation, Vol 6, Iss 1, Pp 29-35 (2022)
ABSTRACT Although whole‐exome sequencing and whole‐genome sequencing has tremendously improved our understanding of the genetic etiology of human disorders, about half of the patients still do not receive a molecular diagnosis. The high fraction
Externí odkaz:
https://doaj.org/article/9f08ed8cdccb4b0f8685fd2bea14d1d6
Publikováno v:
Hum. Mutat. 43, 1056-1070 (2022)
Over the last 5 years, RNA sequencing (RNA-seq) has been established and is increasingly applied as an effective approach complementary to DNA sequencing in molecular diagnostics. Currently, three RNA phenotypes, aberrant expression, aberrant splicin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df3e42a26b14b190253ebbdbb0bc69db
https://doi.org/10.1002/humu.24416
https://doi.org/10.1002/humu.24416
Autor:
Kimia Kahrizi, Hossein Najmabadi, Farzane Zare Ashrafi, Sanaz Arzhangi, Goli Kazemi, Marzieh Mohseni, Fariba Ardalani, Fatemeh Aghakhani Moghaddam, Fatemeh Peymani
Publikováno v:
Archives of Iranian Medicine. 23:842-847
Background: Recently, we have reported mutations in LARP7 gene, leading to neurodevelopmental disorders (NDDs), the most frequent cause of disability in children with a broad phenotype spectrum and diverse genetic landscape. Methods: Here, we present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e342f34c3e3f94ae9182084fcded167b
https://doi.org/10.34172/aim.2020.112
https://doi.org/10.34172/aim.2020.112
Autor:
Goli, Kazemi, Fatemeh, Peymani, Marzieh, Mohseni, Farzane, Zare Ashrafi, Sanaz, Arzhangi, Fariba, Ardalani, Fatemeh, Aghakhani Moghaddam, Kimia, Kahrizi, Hossein, Najmabadi
Publikováno v:
Archives of Iranian medicine. 23(12)
Recently, we have reported mutations in LARP7 gene, leading to neurodevelopmental disorders (NDDs), the most frequent cause of disability in children with a broad phenotype spectrum and diverse genetic landscape.Here, we present two Iranian patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9e0ae230197f453936efbfe97cdabb3a
https://pubmed.ncbi.nlm.nih.gov/33356342
https://pubmed.ncbi.nlm.nih.gov/33356342
Publikováno v:
Neuroscience. 404
A significant level of genetic heterogeneity has been demonstrated in intellectual disability (ID). More than 700 genes have been identified in ID patients. To identify molecular pathways underlying this heterogeneity, we applied whole-transcriptome
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9fb1bf09fea51d656b13fe9420567e0d
https://pubmed.ncbi.nlm.nih.gov/30742961
https://pubmed.ncbi.nlm.nih.gov/30742961