Zobrazeno 1 - 10
of 29
pro vyhledávání: '"Saghar Ghasemi Firouzabadi"'
Autor:
Francesca Mattioli, Hossein Darvish, Sohail Aziz Paracha, Abbas Tafakhori, Saghar Ghasemi Firouzabadi, Marjan Chapi, Hafiz Muhammad Azhar Baig, Alexandre Reymond, Stylianos E. Antonarakis, Muhammad Ansar
Publikováno v:
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-5 (2021)
Abstract Intellectual disability (ID) is a highly heterogeneous disorder with hundreds of associated genes. Despite progress in the identification of the genetic causes of ID following the introduction of high-throughput sequencing, about half of aff
Externí odkaz:
https://doaj.org/article/400519f225054fa7a452b59040f859dd
Autor:
Akbar Mohammadzadeh, Susan Akbaroghli, Ehsan Aghaei-Moghadam, Nejat Mahdieh, Reza Shervin Badv, Payman Jamali, Roxana Kariminejad, Zahra Chavoshzadeh, Saghar Ghasemi Firouzabadi, Roxana Mansour Ghanaie, Ahoura Nozari, Sussan Banihashemi, Fatemeh Hadipour, Zahra Hadipour, Ariana Kariminejad, Hossein Najmabadi, Yousef Shafeghati, Farkhondeh Behjati
Publikováno v:
Cell Journal, Vol 21, Iss 3, Pp 337-349 (2019)
Objective: Major birth defects are inborn structural or functional anomalies with long-term disability and adverse impacts on individuals, families, health-care systems, and societies. Approximately 20% of birth defects are due to chromosomal and g
Externí odkaz:
https://doaj.org/article/7f76be7241904573b1cdae79e809ff61
Autor:
Vajiheh Aghamollaii, Shakila Meshkat, Somayeh Bakhtiari, Elham Alehabib, Saghar Ghasemi Firouzabadi, Samira Molaei, Michael C. Kruer, Hossein Darvish
Publikováno v:
Journal of Pediatric Epilepsy. 12:084-087
Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive inborn error of creatine synthesis that results in intellectual disability, epilepsy, expressive language delay, and dystonia. We report data from two siblings with an unc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::84360e5b5e0550017b13497fd75c2689
https://doi.org/10.1055/s-0042-1760291
https://doi.org/10.1055/s-0042-1760291
Autor:
Chiara Klöckner, J Pedro Fernández-Murray, Mahtab Tavasoli, Heinrich Sticht, Gisela Stoltenburg-Didinger, Leila Motlagh Scholle, Somayeh Bakhtiari, Michael C Kruer, Hossein Darvish, Saghar Ghasemi Firouzabadi, Alex Pagnozzi, Anju Shukla, Katta Mohan Girisha, Dhanya Lakshmi Narayanan, Parneet Kaur, Reza Maroofian, Maha S Zaki, Mahmoud M Noureldeen, Andreas Merkenschlager, Janina Gburek-Augustat, Elisa Cali, Selina Banu, Kamrun Nahar, Stephanie Efthymiou, Henry Houlden, Rami Abou Jamra, Jason Williams, Christopher R McMaster, Konrad Platzer
Publikováno v:
Brain
The Kennedy pathways catalyse the de novo synthesis of phosphatidylcholine and phosphatidylethanolamine, the most abundant components of eukaryotic cell membranes. In recent years, these pathways have moved into clinical focus because four of ten gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6bafae1ef1abf0055fba256b4eba891
https://doi.org/10.1093/brain/awac074
https://doi.org/10.1093/brain/awac074
Autor:
Shaghayegh Taghavi, Hossein Darvish, Safoura Zardadi, Elham Alehabib, Fatemeh Mohajerani, Luis J. Azcona, Abbas Tafakhori, Saghar Ghasemi Firouzabadi, Coro Paisán-Ruiz
Publikováno v:
Annals of Neurology. 90:319-323
We here describe the identification of a novel variant in the anti-inflammatory Annexin A1 protein likely to be the cause of disease in two siblings with autosomal recessive parkinsonism. The disease-segregating variant was ascertained through a comb
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a644d8c723ad703b46cb5f7cb74f43a7
https://doi.org/10.1002/ana.26148
https://doi.org/10.1002/ana.26148
Autor:
Francesca Mattioli, Lina Worpenberg, Cai-Tao Li, Nazia Ibrahim, Shagufta Naz, Saima Sharif, Saghar Ghasemi Firouzabadi, Shohreh Vosoogh, Radoslava Saraeva-Lamri, Laure Raymond, Carlos Trujillo, Nicolas Guex, Stylianos E. Antonarakis, Muhammad Ansar, Hossein Darvish, Ru-Juan Liu, Jean-Yves Roignant, Alexandre Reymond
Publikováno v:
Genetics in Medicine. :100900
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43551ce841c12b33c08d05e4ccaa5c78
https://doi.org/10.1016/j.gim.2023.100900
https://doi.org/10.1016/j.gim.2023.100900
Autor:
Soheila Khaksari, Ehsan Aghaei Moghadam, Ahoura Nozari, Zahra Boroughani, Saghar Ghasemi Firouzabadi, Farkhondeh Behjati
Publikováno v:
International Journal of Medical Laboratory.
Background and Aims: Congenital heart defects (CHD) are the most common type of congenital disability. Copy number variations (CNVs) have been found as one of the genetic etiology of non-syndromic CHD, and researchers have detected several pathogenic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2618e065f56b841ae3cbbfd832aaa1b3
https://doi.org/10.18502/ijml.v9i1.9087
https://doi.org/10.18502/ijml.v9i1.9087
Autor:
Hossein Darvish, Saghar Ghasemi-Firouzabadi, Gholam Reza Bahrami-Monajemi, Ideh Bahman, Marziyeh Mohseni, Mohammad Javad Soltani-Banavandi, Sousan Banihashemi , Sanaz Arjangi, Farkhondeh Behjati, Kimia Kahrizi, Hossein Najmabadi
Publikováno v:
Journal of Rehabilitation, Vol 11, Iss 3, Pp 25-32 (2010)
Objective: About 70 percent of mental retardation can be attributed to genetic causes. Whereas the recognization of genetic causes of mental retardation causes better programming and more precision council for prevention and control of mental retarda
Externí odkaz:
https://doaj.org/article/867fc03b62a34f38839cb6ead62ff817
Autor:
Reza Maroofian, Henry Houlden, Jess Williams, Maha S. Zaki, Andreas Merkenschlager, M. M. Noureldeen, Konrad Platzer, H. Darvish, Christopher R. McMaster, C. Kloeckner, Saghar Ghasemi Firouzabadi, Michael C. Kruer, Somayeh Bakhtiari, S. H. Banu, M. Tavasoli, J. P. Fernandez Murray, Heinrich Sticht, Anju Shukla, Parneet Kaur, Dhanya Lakshmi Narayanan, A. Pagnozzi, E. Cali, R. Abou Jamra, L. Scholle, Janina Gburek-Augustat, K. Nahar, Katta M. Girisha, Stephanie Efthymiou, G. Stoltenburg-Didinger
The Kennedy pathways catalyze the de novo synthesis of phosphatidylcholine and phosphatidylethanolamine, the most abundant components of eukaryotic cell membranes. In recent years, these pathways have moved into clinical focus since four out of ten g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::36c712d78b7f875e7be6b2605ff742ae
https://doi.org/10.1101/2021.10.21.21265050
https://doi.org/10.1101/2021.10.21.21265050
Autor:
Abbas Tafakhori, Stylianos E. Antonarakis, Francesca Mattioli, Hossein Darvish, Marjan Chapi, Sohail A. Paracha, Hafiz Muhammad Azhar Baig, Saghar Ghasemi Firouzabadi, Muhammad Ansar, Alexandre Reymond
Intellectual disability (ID) is a highly heterogeneous disorder with hundreds of associated genes. Despite progress in the identification of the genetic causes of ID following the introduction of high-throughput sequencing, about half of affected ind
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a975477970ecb92ccf89bd1272fc8c6
https://doi.org/10.1101/2021.05.31.21257832
https://doi.org/10.1101/2021.05.31.21257832