Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Rory J Tinker"'
Autor:
Kimberly M. Ezell, Yutaka Furuta, Devin Oglesbee, Eniko K. Pivnick, David Rinker, Jonathan H. Sheehan, Rory J. Tinker, Rizwan Hamid, Joy D. Cogan, Lynette Rives, Serena Neumann, Brian Corner, Mary Koziura, John A. Phillips, III
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101145- (2024)
Autosomal dominant congenital disorder of glycosylation (CDG) type Iw (OMIM# 619714) is caused by a heterozygous mutation in the STT3A gene. Most CDGs have an autosomal recessive (AR) mode of inheritance, but several cases with an autosomal dominant
Externí odkaz:
https://doaj.org/article/115228e2c35b4a0a9e2f7b38a2c25666
Publikováno v:
In Genetics in Medicine June 2023
Autor:
Rory J. Tinker, Tiffany Guess, David C. Rinker, Jonathan H. Sheehan, Daniel Lubarsky, Binu Porath, Mackenzie Mosera, Ping Mayo, Emily Solem, Laura A. Lee, Asha Sarma, Jennifer Brault
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 12, Pp n/a-n/a (2022)
Abstract Background A de novo, pathogenic, missense variant in UBTF, c.628G>A p.Glu210Lys, has been described as the cause of an emerging neurodegenerative disorder, Childhood‐Onset Neurodegeneration with Brain Atrophy (CONDBA). The p.Glu210Lys alt
Externí odkaz:
https://doaj.org/article/b91ff5b22f1346b884bf9f230a6e5293
Autor:
Roozbeh Tahmasebi, Antonio Charlys da Costa, Kaelan Tardy, Rory J. Tinker, Flavio Augusto de Padua Milagres, Rafael Brustulin, Maria da Aparecida Rodrigues Teles, Rogério Togisaki das Chagas, Cassia Vitória de Deus Alves Soares, Aripuana Sakurada Aranha Watanabe, Cecilia Salete Alencar, Fabiola Villanova, Xutao Deng, Eric Delwart, Adriana Luchs, Élcio Leal, Ester Cerdeira Sabino
Publikováno v:
Viruses, Vol 12, Iss 5, p 508 (2020)
Human Adenovirus species C (HAdV-C) is the most common etiologic agent of respiratory disease. In the present study, we characterized the nearly full-length genome of one potential new HAdV-C recombinant strain constituted by Penton and Fiber protein
Externí odkaz:
https://doaj.org/article/25fe59d9e2ae4971b308f4bfcc2997de
Autor:
Eric Delwart, Maria da Aparecida Rodrigues Teles, Rafael Brustulin, Roozbeh Tahmasebi, Élcio Leal, Alexis Jose-Abrego, Mariana Sequetin Cunha, Flavio Augusto de Pádua Milagres, Vanessa dos Santos Morais, Xutao Deng, Antonio Charlys da Costa, Rory J Tinker, Ester Cerdeira Sabino, Emerson Luiz Lima Araújo, Ramendra Pati Pandey, Adriana Luchs, Mariela Martínez Gómez
Publikováno v:
Archives of Virology. 166:905-913
From 2010-2016, a total of 251 stool samples were screened for norovirus using next-generation sequencing (NGS) followed by phylogenetic analysis to investigate the genotypic diversity of noroviruses in rural and low-income urban areas in northern Br
Autor:
George J Burghel, Shruti Garg, Rory J Tinker, Maggie Steggall, Sara Cuvertino, Siddharth Banka
Publikováno v:
Tinker, R J, Burghel, G J, Garg, S, Steggall, M, Cuvertino, S & Banka, S 2020, ' Haploinsufficiency of ATP6V0C possibly underlies 16p13.3 deletions that cause microcephaly, seizures, and neurodevelopmental disorder ', American Journal of Medical Genetics Part A . https://doi.org/10.1002/ajmg.a.61905
We recently contributed to the description of eight individuals with a novel condition caused by 16p13.3 microdeletions encompassing TBC1D24, ATP6V0C, and PDPK1 and resulting in epilepsy, microcephaly and neurodevelopmental problems. The phenotypic s
Autor:
Chad Chang, Geoff C. Bedford, Omar A. Ahmed, Iain B. Anderson, Samuel P. Munro, Maniram Ragbir, Rory J. Tinker
Publikováno v:
Journal of reconstructive microsurgery. 38(1)
Background The role of vasopressors has long been a subject of debate in microsurgery. Conventional wisdom dictates the avoidance of vasopressor use, due to concerns such as peripheral vasoconstriction, inducing vasospasm of the anastomoses, and lead
Autor:
Owrang Eilami, Xutao Deng, Rafael Brustulin, Philip Michael Hefford, Roozbeh Tahmasebi, Flavio Augusto de Pádua Milagres, Eric Delwart, Vanessa dos Santos Morais, Ester Cerdeira Sabino, Élcio Leal, Antonio Charlys da Costa, Renata Buccheri, Rory J Tinker, Emerson Luiz Lima Araújo, Maria da Aparecida Rodrigues Teles, Fabiola Villanova, Kaelan Tardy, Carlos Henrique Valente Moreira, Adriana Luchs
Publikováno v:
The Journal of general virology. 101(12)
Human enteric adenovirus species F (HAdV-F) is one of the most common pathogens responsible for acute gastroenteritis worldwide. Brazil is a country with continental dimensions where continuous multiregional surveillance is vital to establish a more
Autor:
Rory J, Tinker, Antonio Charlys, da Costa, Roozbeh, Tahmasebi, Flavio Augusto de Pádua, Milagres, Vanessa, Dos Santos Morais, Ramendra Pati, Pandey, Alexis, José-Abrego, Rafael, Brustulin, Maria da Aparecida, Rodrigues Teles, Mariana Sequetin, Cunha, Emerson Luiz Lima, Araújo, Mariela Martínez, Gómez, Xutao, Deng, Eric, Delwart, Ester Cerdeira, Sabino, Elcio, Leal, Adriana, Luchs
Publikováno v:
Archives of virology. 166(3)
From 2010-2016, a total of 251 stool samples were screened for norovirus using next-generation sequencing (NGS) followed by phylogenetic analysis to investigate the genotypic diversity of noroviruses in rural and low-income urban areas in northern Br
Publikováno v:
Tinker, R J, Wiltshire, R, Du Plessis, D & Lilleker, J B 2020, ' Fibrous myopathy induced by intramuscular injections of cyclizine ', BMJ Case Reports, vol. 13, no. 5, e233544 . https://doi.org/10.1136/bcr-2019-233544
BMJ Case Rep
BMJ Case Rep
A 63-year-old woman was referred to neurology with bilateral severe progressive pain and stiffness in her thighs. The patient had a 3-year history of injecting intramuscular cyclizine into the anterior thigh to treat nausea associated with a longstan
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1864507a8fed9f81a33e6e8ae45fbbf
https://pure.manchester.ac.uk/ws/files/173534664/AAM.pdf
https://pure.manchester.ac.uk/ws/files/173534664/AAM.pdf