Zobrazeno 1 - 10
of 198
pro vyhledávání: '"rare genetic disease"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
Abstract Background The 22q11.2 Deletion Syndrome (22q11.2 DS) presents unique healthcare challenges for affected individuals, families, and healthcare systems. Despite its rarity, 22q11.2 DS is the most common microdeletion syndrome in humans, empha
Externí odkaz:
https://doaj.org/article/79f78062b914484d926dd6f779ce3638
Autor:
Numrah Fadra, Laura E Schultz-Rogers, Pritha Chanana, Margot A Cousin, Erica L Macke, Alejandro Ferrer, Filippo Pinto e Vairo, Rory J Olson, Gavin R Oliver, Lindsay A Mulvihill, Garrett Jenkinson, Eric W Klee
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-16 (2024)
Abstract Background X-chromosome inactivation (XCI) is an epigenetic process that occurs during early development in mammalian females by randomly silencing one of two copies of the X chromosome in each cell. The preferential inactivation of either t
Externí odkaz:
https://doaj.org/article/7c3188a7d01b477aa61d1fc1deab8a2f
Autor:
Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A. Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S. Al-Shabeeb Akil, Ramin Badii, Tawfeg Ben-Omran, Bernice Lo, The Qatar Genome Program Research Consortium, Younes Mokrab, Khalid A. Fakhro
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-17 (2024)
Abstract Background Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familial studies. Methods He
Externí odkaz:
https://doaj.org/article/b4266c219952427a95b95677aa94733a
Autor:
Mingyu Han, Wei Shi, Xiangxiang Chen, Dingwen Wu, Yi Sun, Weiyan Wang, Canyang Zhan, Lingling Hu, Tianming Yuan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 8, Pp n/a-n/a (2024)
ABSTRACT Background Feeding difficulties frequently co‐occur with multisystem disorders attributed to rare genetic diseases. In this study, we aimed to describe the genetic manifestations and phenotype spectrum in infants experiencing feeding diffi
Externí odkaz:
https://doaj.org/article/77c653713e4b4b75b90cc071f3ea5201
Autor:
M. Ilcheva
Publikováno v:
Trakia Journal of Sciences, Vol 21, Iss Suppl.1, Pp 451-455 (2023)
PURPOSE: The aim of the study is to monitor the effect of a specialized kinesitherapy program on motor development in a child with achondroplasia. METHODS: The study cohort was 1 infant with achondroplasia. The infant had physical therapy sessions
Externí odkaz:
https://doaj.org/article/2c8c6a0300404aa1b4f678e3f4e59d72
Autor:
Aina Gayà-Barroso, Juan González-Moreno, Adrián Rodríguez, Tomás Ripoll-Vera, Inés Losada-López, Margarita Gili, Milena Paneque, Sara Pérez-Martínez, Eugenia Cisneros-Barroso
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-8 (2023)
Abstract Background Hereditary transthyretin amyloidosis (ATTRv) is a rare genetic disease that negatively affects patients' quality of life through the involvement of various organs and tissues. Despite a large amount of research on medical and psyc
Externí odkaz:
https://doaj.org/article/7ecaeaeaa59e4f45be8fb91e15e07268
Publikováno v:
Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-6 (2023)
Abstract Background Metabolic bone disease causes significant morbidity and mortality, especially when misdiagnosed. With genetic testing, multiple disease pathologies can be analyzed. Case presentation A 5-year and 9-month-old otherwise healthy Yeme
Externí odkaz:
https://doaj.org/article/381ed1f61d754b6b91b6486f679f3e3c
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