Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Carol Negrijn"'
Autor:
Ada J. S. Chan, Worrawat Engchuan, Miriam S. Reuter, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Brett Trost, Thomas Nalpathamkalam, Carol Negrijn, Sylvia Lamoureux, Giovanna Pellecchia, Rohan V. Patel, Wilson W. L. Sung, Jeffrey R. MacDonald, Jennifer L. Howe, Jacob Vorstman, Neal Sondheimer, Nicole Takahashi, Judith H. Miles, Evdokia Anagnostou, Kristiina Tammimies, Mehdi Zarrei, Daniele Merico, Dimitri J. Stavropoulos, Ryan K. C. Yuen, Bridget A. Fernandez, Stephen W. Scherer
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)
Morphological subtypes of autism spectrum disorder (ASD) may differ in their genetic bases. Chan et al. develop a method for calculating a patient-level, genome-wide rare variant score and find significant differences in rare and common variant assoc
Externí odkaz:
https://doaj.org/article/daff05382e894c1ca9c8df1af30b6dc7
Autor:
Jacob A. S. Vorstman, Evdokia Anagnostou, Daniele Merico, Jeffrey R. MacDonald, Jennifer L. Howe, Zhuozhi Wang, Ryan K. C. Yuen, Thomas Nalpathamkalam, Judith H. Miles, Carol Negrijn, Miriam S. Reuter, Neal Sondheimer, Bridget A. Fernandez, Stephen W. Scherer, Wilson W L Sung, Kristiina Tammimies, Rohan V. Patel, Worrawat Engchuan, Giovanna Pellecchia, Nicole Takahashi, Mehdi Zarrei, Ada J.S. Chan, Dimitri J. Stavropoulos, Bhooma Thiruvahindrapuram, Sylvia Lamoureux, Brett Trost
Defining different genetic subtypes of autism spectrum disorder (ASD) can enable the prediction of developmental outcomes. Based on minor physical and major congenital anomalies, we categorized 325 Canadian children with ASD into dysmorphic and nondy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7de69aa76112317c617021b391f0c972
https://doi.org/10.1101/2021.10.20.21264950
https://doi.org/10.1101/2021.10.20.21264950
Autor:
Carol Negrijn, Anne Griffin, Susan J Moore, Mani Larijani, Lance P. Doucette, Justin J. King, David A McComiskey, Jim Houston, Kathy Hodgkinson, Terry-Lynn Young, Susan G. Stanton, Nelly Abdelfatah
Publikováno v:
European Journal of Human Genetics. 21:1112-1119
Autosomal dominant sensorineural hearing loss (ADSNHL) is extremely genetically heterogeneous, making it difficult to molecularly diagnose. We identified a multiplex (n=28 affected) family from the genetic isolate of Newfoundland, Canada with variabl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e9b0a4605fda2a8ca853d3b83b9eb16
https://doi.org/10.1038/ejhg.2013.5
https://doi.org/10.1038/ejhg.2013.5
Autor:
Carrie Tribula, Carol Negrijn, John Jeffery, Patrick S. Parfrey, Claudio Rigatto, Robert N. Foley
Publikováno v:
Journal of the American Society of Nephrology. 14:462-468
Left ventricular hypertrophy (LVH) is an independent risk factor for death and cardiovascular disease in the general population and dialysis patients. However, the causes and consequences of LVH have not been well described in renal transplant recipi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52cae173b34ef693aeda99c9c0496623
https://doi.org/10.1097/01.asn.0000043141.67989.39
https://doi.org/10.1097/01.asn.0000043141.67989.39
Autor:
John Jeffery, Robert N. Foley, Patrick S. Parfrey, Carol Negrijn, Carrie Tribula, Claudio Rigatto
Publikováno v:
Scopus-Elsevier
Cardiovascular disease (CVD) is the major cause of death in renal transplant recipients (RTR). Several cohort studies have examined CVD in RTR, but none have addressed the development of congestive heart failure (CHF). CHF would hypothetically be a f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32008aab513203831f64ef14438e86f6
https://pubmed.ncbi.nlm.nih.gov/11912270
https://pubmed.ncbi.nlm.nih.gov/11912270