Zobrazeno 1 - 10 of 23 pro vyhledávání: '"Alison, Eaton"'
1
Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG)
Autor: Melissa T Carter, Myriam Srour, Ping-Yee Billie Au, Daniela Buhas, Sarah Dyack, Alison Eaton, Michal Inbar-Feigenberg, Heather Howley, Anne Kawamura, Suzanne M E Lewis, Elizabeth McCready, Tanya N Nelson, Hilary Vallance
Publikováno v: Journal of Medical Genetics. 60:523-532
Purpose and scopeThe aim of this position statement is to provide recommendations for clinicians regarding the use of genetic and metabolic investigations for patients with neurodevelopmental disorders (NDDs), specifically, patients with global devel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2ac3960c3d9f7dcad0343e0bff398aa1
https://doi.org/10.1136/jmg-2022-108962
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2
Diagnostic yield of clinical exome sequencing in adulthood in medical genetics clinics
Autor: Apurba Mainali, Taryn Athey, Shalini Bahl, Clara Hung, Oana Caluseriu, Alicia Chan, Alison Eaton, Shailly Jain Ghai, Peter Kannu, Melissa MacPherson, Karen Y. Niederhoffer, Komudi Siriwardena, Saadet Mercimek‐Andrews
Publikováno v: American Journal of Medical Genetics Part A. 191:510-517
Clinical exome sequencing (ES) is the most comprehensive genomic test to identify underlying genetic diseases in Canada. We performed this retrospective cohort study to investigate the diagnostic yield of clinical ES in adulthood. Inclusion criteria
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d79e214f859370a4881855d5ab5fc7c
https://doi.org/10.1002/ajmg.a.63053
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3
The implementation of an enhanced clinical model to improve the diagnostic yield of exome sequencing for patients with a rare genetic disease: A Canadian experience
Autor: Grace Uwaila, Ediae, Gabrielle, Lemire, Caitlin, Chisholm, Taila, Hartley, Alison, Eaton, Matthew, Osmond, Samantha K, Rojas, Lijia, Huang, Meredith, Gillespie, Sarah L, Sawyer, Kym M, Boycott
Publikováno v: American Journal of Medical Genetics Part A. 191:338-347
The introduction of clinical exome sequencing (ES) has provided a unique opportunity to decrease the diagnostic odyssey for patients living with a rare genetic disease (RGD). ES has been shown to provide a diagnosis in 29%-57% of patients with a susp
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::833b228c473e139cc1685b1da73ce0ae
https://doi.org/10.1002/ajmg.a.63022
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4
Delineating the expanding phenotype of HERC2 ‐related disorders: The impact of biallelic loss of function versus missense variation
Autor: Vahid Reza Yassaee, Lauren Rudichuk, Helly Goez, Alison Eaton, Joanna Lazier, Mohammad Miryounesi, Feyzollah Hashemi-Gorji, Norma Leonard, Krista M. Vincent
Publikováno v: Clinical Genetics. 100:637-640
HECT And RLD Domain-Containing E3 Ubiquitin Protein Ligase 2, or HERC2, codes an ubiquitin ligase that has an important role in key cellular processes including cell cycle regulation, DNA repair, mitochondrial functions, and spindle formation during
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30e078cb990ec27c34bb835ffa2ad29b
https://doi.org/10.1111/cge.14039
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5
A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne–Kalscheuer syndrome
Autor: Meredith Wilson, Carmen Espejo-Serrano, Francisco Bustos, Anna Segarra-Fas, Kristin D. Kernohan, Rachel Toth, Lisa G. Riley, Greg M. Findlay, Alison Eaton
Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Scientific Reports
Tonne–Kalscheuer syndrome (TOKAS) is an X-linked intellectual disability syndrome associated with variable clinical features including craniofacial abnormalities, hypogenitalism and diaphragmatic hernia. TOKAS is caused exclusively by variants in t
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f3a0486a9dde3a9fdb4c4e793e2716f
https://doaj.org/article/2d52100e1cdb40aa897c41b55f0c87e6
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6
Strategic Variants of CSP Delivered as SynDNA Vaccines Demonstrate Heterogeneity of Immunogenicity and Protection from Plasmodium Infection in a Murine Model
Autor: Mamadou A. Bah, Ami Patel, Hugo Jhun, Kevin Kim, Fidel Zavala, Nicholas J. Tursi, Jacqueline Chu, Rianne Esquivel, Rebekah C. Brooks, David B. Weiner, Sophia M. Reeder, Alison Eaton, Ziyang Xu
Publikováno v: Infection and Immunity. 89
Malaria infects millions of people every year, and despite recent advances in controlling disease spread, such as vaccination, it remains a global health concern. The circumsporozoite protein (CSP) has long been acknowledged as a key target in antima
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2c38efdc5a911b57a054a8ee07b03021
https://doi.org/10.1128/iai.00728-20
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8
Strategic Variants of CSP Delivered as SynDNA Vaccines Demonstrate Heterogeneity of Immunogenicity and Protection from
Autor: Sophia M, Reeder, Mamadou A, Bah, Nicholas J, Tursi, Rebekah C, Brooks, Ami, Patel, Rianne, Esquivel, Alison, Eaton, Hugo, Jhun, Jacqueline, Chu, Kevin, Kim, Ziyang, Xu, Fidel, Zavala, David B, Weiner
Publikováno v: Infection and immunity. 89(10)
Malaria infects millions of people every year, and despite recent advances in controlling disease spread, such as vaccination, it remains a global health concern. The circumsporozoite protein (CSP) has long been acknowledged as a key target in antima
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::7e2d1e1613f4a5f29daebe36570fd2af
https://pubmed.ncbi.nlm.nih.gov/34152830
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9
A novel RLIM/RNF12 variant disrupts protein stability and function to cause severe Tonne-Kalscheuer syndrome
Autor: Alison Eaton, Carmen Espejo-Serrano, Lisa G. Riley, Francisco Bustos, Anna Segarra-Fas, Kristin D. Kernohan, Greg M. Findlay, Meredith Wilson
Tonne-Kalscheuer syndrome (TOKAS) is an X-linked intellectual disability syndrome associated with variable clinical features including craniofacial abnormalities, hypogenitalism and diaphragmatic hernia. TOKAS is caused exclusively by variants in the
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1390a8af11d053abe14a8f9db2b04c52
https://doi.org/10.1101/2020.12.09.417873
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10
Genetic mechanisms of neurodevelopmental disorders
Autor: P Y Billie, Au, Alison, Eaton, David A, Dyment
Publikováno v: Handbook of clinical neurology. 173
Neurodevelopmental disorders encompass a broad range of conditions, which include autism, epilepsy, and intellectual disability. These disorders are relatively common and have associated clinical and genetic heterogeneity. Technology has driven much
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::af7c555b031fcd67a8cb48b8b32543b6
https://pubmed.ncbi.nlm.nih.gov/32958182
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