Zobrazeno 1 - 10
of 81
pro vyhledávání: '"Asif Mir"'
Autor:
Georgina James, Asif Mir
Publikováno v:
BJPsych Open, Vol 10, Pp S191-S191 (2024)
Aims Rapid Tranquillisation (RT) is the administration of parenteral sedation to de-escalate situations where patients may harm themselves and/or others. RT is a restrictive intervention potentially breaching patients’ human rights and is reserved
Externí odkaz:
https://doaj.org/article/583332b21726431cb78493c3a364e076
Publikováno v:
Global Medical Genetics, Vol 11, Iss 01, Pp 001-012 (2024)
Dementia is a syndrome that can cause a number of progressive illnesses that affect memory, thinking, and ability to perform everyday tasks. Alzheimer's disease (AD) is the most common cause of dementia and represents a major public health problem. A
Externí odkaz:
https://doaj.org/article/851604380c3b4816b99760083902e8fe
Autor:
Ibrar Rafique, Asif Mir, Muhammad Arif Nadeem Saqib, Muhammad Naeem, Luc Marchand, Constantin Polychronakos
Publikováno v:
BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-6 (2021)
Abstract Background Maturity Onset Diabetes of the Young (MODY) is an autosomal dominant type of diabetes. Pathogenic variants in fourteen genes are reported as causes of MODY. Its symptoms overlap with type 1 and type 2 diabetes. Reviews for clinica
Externí odkaz:
https://doaj.org/article/89d9c2ea7205409caccbd8aa9c15f46c
Autor:
Taimoor I. Sheikh, Nasim Vasli, Stephen Pastore, Kimia Kharizi, Ricardo Harripaul, Zohreh Fattahi, Shruti Pande, Farooq Naeem, Abrar Hussain, Asif Mir, Omar Islam, Katta Mohan Girisha, Muhammad Irfan, Muhammad Ayub, Christoph Schwarzer, Hossein Najmabadi, Anju Shukla, Valentina C. Sladky, Vincent Zoran Braun, Irmina Garcia-Carpio, Andreas Villunger, John B. Vincent
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-13 (2021)
Abstract PIDD1 encodes p53-Induced Death Domain protein 1, which acts as a sensor surveilling centrosome numbers and p53 activity in mammalian cells. Early results also suggest a role in DNA damage response where PIDD1 may act as a cell-fate switch,
Externí odkaz:
https://doaj.org/article/59946732b5df4eecace75327ea1e1e2b
Autor:
Talal J. Qazi, Qiao Wu, Ailikemu Aierken, Daru Lu, Ihtisham Bukhari, Hafiz M. J. Hussain, Jingmin Yang, Asif Mir, Hong Qing
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Abstract Background Loss of function mutations in the spermine synthase gene (SMS) have been reported to cause a rare X-linked intellectual disability known as Snyder-Robinson Syndrome (SRS). Besides intellectual disability, SRS is also characterized
Externí odkaz:
https://doaj.org/article/7811a6da7dc94fc6a086ab5996774138
Autor:
Muhammad Ilyas, Stephanie Efthymiou, Vincenzo Salpietro, Nuzhat Noureen, Faisal Zafar, Sobiah Rauf, Asif Mir, Henry Houlden
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-8 (2020)
Abstract Background Intellectual disability (ID) is both a clinically diverse and genetically heterogeneous group of disorder, with an onset of cognitive impairment before the age of 18 years. ID is characterized by significant limitations in intelle
Externí odkaz:
https://doaj.org/article/e12db3ed56af4fa8b96452f503099b00
Publikováno v:
Pakistan Journal of Medical Research, Vol 60, Iss 2 (2021)
Background: Fragile XE (FRAXE) is an X-linked recessive condition that affects 1 in 50,000 of new born males with intellectual disability (ID). It is characterized by mild Intellectual disability (ID), speech delay cognitive impairment, and in some c
Externí odkaz:
https://doaj.org/article/00db3f978905459a8538f5761ac1fced
Autor:
Mehran Kausar, Saima Siddiqi, Muhammad Yaqoob, Sajid Mansoor, Outi Makitie, Asif Mir, Chiea Chuen Khor, Jia Nee Foo, Mariam Anees
Publikováno v:
Journal of Biomedical Science, Vol 25, Iss 1, Pp 1-10 (2018)
Abstract Introduction Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disease with skeletal fragility and variable extra-skeletal manifestations. To date several point mutations in 18 different genes causing different types
Externí odkaz:
https://doaj.org/article/4ee6f9ae808548d895c5a582c1faddf4
Autor:
Sajida Rasool, Jamshaid Mahmood Baig, Abubakar Moawia, Ilyas Ahmad, Maria Iqbal, Syeda Seema Waseem, Maria Asif, Uzma Abdullah, Ehtisham Ul Haq Makhdoom, Emrah Kaygusuz, Muhammad Zakaria, Shafaq Ramzan, Saif ul Haque, Asif Mir, Iram Anjum, Mehak Fiaz, Zafar Ali, Muhammad Tariq, Neelam Saba, Wajid Hussain, Birgit Budde, Saba Irshad, Angelika Anna Noegel, Stefan Höning, Shahid Mahmood Baig, Peter Nürnberg, Muhammad Sajid Hussain
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 9, Pp n/a-n/a (2020)
Abstract Background Primary microcephaly (MCPH) is a congenital neurodevelopmental disorder manifesting as small brain and intellectual disability. It underlies isolated reduction of the cerebral cortex that is reminiscent of early hominids which mak
Externí odkaz:
https://doaj.org/article/86efdf4d011a4c569530b984fe472c83
Publikováno v:
F1000Research, Vol 9 (2020)
Intellectual disability (ID) is a neurodevelopmental condition affecting 1–3% of the world’s population. Genetic factors play a key role causing the congenital limitations in intellectual functioning and adaptive behavior. The heterogeneity of ID
Externí odkaz:
https://doaj.org/article/c4adc21293624f0ba1c6f1992c1c0a40