Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Aria Jankhah"'
Autor:
Ali Khanbazi, Maryam Beheshtian, Maryam Azad, Masoumeh Akbari Kelishomi, Fariba Afroozan, Fatemeh Fatehi, Khadijeh Noudehi, Shima Zamanian Najafabadi, Mohammadamin Omrani, Haleh Habibi, Maryam Taghdiri, Isa Abdi Rad, Shahriar Nafissi, Aria Jankhah, Hilda Yazdan, Parvaneh Daneshmand, Seyed Hosseinali Saberi, Kimia Kahrizi, Ariana Kariminejad, Hossein Najmabadi
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)
Abstract Copy number variations in the SMN1 gene on chromosome 5 are the primary cause of Spinal Muscular Atrophy (SMA) disease, characterized by muscle weakness and degeneration due to impaired alpha motor neurons in the spinal cord. To obtain a com
Externí odkaz:
https://doaj.org/article/29d53f4c7756496b8660fa1327609193
Autor:
Hossein Jafari Khamirani, Sina Zoghi, Mehdi Dianatpour, Aria Jankhah, Seyed Sajjad Tabei, Sanaz Mohammadi, Seyed Alireza Dastgheib
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)
Abstract PTRH2 deficiency is associated with an extremely rare disease, infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). We report the first Iranian patient with IMNEPD. We detected a pathogenic variant in the PTRH2
Externí odkaz:
https://doaj.org/article/65d30e4d5ce041ababe457f0f3066f41
Autor:
Aria Jankhah, Mehdi Dianatpour, Hossein Jafari Khamirani, Seyed Sajjad Tabei, Sanaz Mohammadi, Seyed Alireza Dastgheib, Sina Zoghi
Publikováno v:
Human Genome Variation
Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)
Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)
PTRH2 deficiency is associated with an extremely rare disease, infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). We report the first Iranian patient with IMNEPD. We detected a pathogenic variant in the PTRH2 gene (NM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30b382f9bf904e3bb90affefbb4bcbb0
https://doi.org/10.1038/s41439-021-00147-9
https://doi.org/10.1038/s41439-021-00147-9
Autor:
Sarah Azimi, Leila Nouri Vahid, Krystyna Keleman, Pooneh Nikuei, Tara Akhtarkhavari, Thomas F. Wienker, Beate Albrecht, Hossein Khodaei, Mohammad Reza Ebrahimpour, Mohammad Javad Soltani Banavandi, Marzieh Mohseni, Vanessa Suckow, Aria Jankhah, Milad Bastami, Behzad Davarnia, Vera M. Kalscheuer, Farzaneh Larti, Saeide Akbari, Kimia Kahrizi, Jamileh Rezazadeh Varaghchi, Bettina Lipkowitz, Sanaz Arzhangi, Morteza Oladnabi, Monika Cohen, Sabine Otto, Zohreh Fattahi, Luciana Musante, Payman Jamali, Maryam Beheshtian, Masoumeh Hosseini, Maryam Taghdiri, Wei Chen, Seyedeh Sedigheh Abedini, Bernd Timmermann, Hans-Hilger Ropers, Andreas Tzschach, Gholamreza Bahrami, Birgit Zirn, Hossein Najmabadi, Dagmar Wieczorek, Ingrid Bader, Gabriele Gillessen-Kaesbach, Cornelia Oppitz, Elaheh Papari, Hao Hu, Ralf Herwig, Fatemeh Pourfatemi, Jutta Gärtner, Faezeh Mojahedi, Hossein Dehghani, Sepideh Mehvari, Seyed Hassan Tonekaboni
Publikováno v:
Molecular Psychiatry
Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual disability (ID) in countries with frequent parental consanguinity, which account for about 1/7th of the world population. Yet, compared to autosomal dominant de novo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eda29e76af95f3244bac3fef885f1ad6
https://hdl.handle.net/21.11116/0000-0000-638A-5
https://hdl.handle.net/21.11116/0000-0000-638A-5
