Zobrazeno 1 - 10
of 31
pro vyhledávání: '"Dimas Mateos"'
Autor:
Jiafen Gong, Gengming He, Cheng Wang, Claire Bartlett, Naim Panjwani, Scott Mastromatteo, Fan Lin, Katherine Keenan, Julie Avolio, Anat Halevy, Michelle Shaw, Mohsen Esmaeili, Guillaume Côté-Maurais, Damien Adam, Stéphanie Bégin, Candice Bjornson, Mark Chilvers, Joe Reisman, April Price, Michael Parkins, Richard van Wylick, Yves Berthiaume, Lara Bilodeau, Dimas Mateos-Corral, Daniel Hughes, Mary J. Smith, Nancy Morrison, Janna Brusky, Elizabeth Tullis, Anne L. Stephenson, Bradley S. Quon, Pearce Wilcox, Winnie M. Leung, Melinda Solomon, Lei Sun, Emmanuelle Brochiero, Theo J. Moraes, Tanja Gonska, Felix Ratjen, Johanna M. Rommens, Lisa J. Strug
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-15 (2022)
Abstract Over 400 variants in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) are CF-causing. CFTR modulators target variants to improve lung function, but marked variability in response exists and current therapies do not address
Externí odkaz:
https://doaj.org/article/c9a883e6061748a2ad1bb0acfad420a2
Autor:
Scott Mastromatteo, Angela Chen, Jiafen Gong, Fan Lin, Bhooma Thiruvahindrapuram, Wilson W.L. Sung, Joe Whitney, Zhuozhi Wang, Rohan V. Patel, Katherine Keenan, Anat Halevy, Naim Panjwani, Julie Avolio, Cheng Wang, Guillaume Côté-Maurais, Stéphanie Bégin, Damien Adam, Emmanuelle Brochiero, Candice Bjornson, Mark Chilvers, April Price, Michael Parkins, Richard van Wylick, Dimas Mateos-Corral, Daniel Hughes, Mary Jane Smith, Nancy Morrison, Elizabeth Tullis, Anne L. Stephenson, Pearce Wilcox, Bradley S. Quon, Winnie M. Leung, Melinda Solomon, Lei Sun, Felix Ratjen, Lisa J. Strug
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100156- (2023)
Summary: Phasing of heterozygous alleles is critical for interpretation of cis-effects of disease-relevant variation. We sequenced 477 individuals with cystic fibrosis (CF) using linked-read sequencing, which display an average phase block N50 of 4.3
Externí odkaz:
https://doaj.org/article/000a1d3c634e4c91b0e728e58acc8bdb
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-7 (2021)
Abstract Background Shrinking lung syndrome (SLS), a rare complication of systemic lupus erythematosus (SLE) characterized by dyspnea, low lung volumes, and a restrictive pattern on pulmonary function tests (PFTs), has only been reported in a few chi
Externí odkaz:
https://doaj.org/article/0df2ce1ce4e944e89309599502fa6fd4
Autor:
Chee Y. Ooi, Rosie Sutherland, Carlo Castellani, Katherine Keenan, Margaret Boland, Joe Reisman, Candice Bjornson, Mark A. Chilvers, Richard van Wylick, Steven Kent, April Price, Dimas Mateos-Corral, Daniel Hughes, Melinda Solomon, Peter Zuberbuhler, Janna Brusky, Peter R. Durie, Felix Ratjen, Tanja Gonska
Publikováno v:
BMC Pediatrics, Vol 19, Iss 1, Pp 1-7 (2019)
Abstract Background Newborn screening (NBS) for cystic fibrosis (CF) not only identifies infants with a diagnosis of CF, but also those with an uncertain diagnosis of cystic fibrosis (CF), i.e. CF transmembrane conductance regulator (CFTR)-related me
Externí odkaz:
https://doaj.org/article/7b7dc0389d05407d9f20efd82bd3212f
Autor:
Dimas Mateos Corral, Allan L Coates, Yvonne CW Yau, Raymond Tellier, Mindy Glass, Steven M Jones, Valerie J Waters
Publikováno v:
Canadian Respiratory Journal, Vol 15, Iss 5, Pp 237-239 (2008)
Burkholderia pseudomallei is a pathogen identified with increasing frequency in the respiratory tracts of cystic fibrosis (CF) patients from endemic areas such as Southeast Asia and northern Australia. The following report describes the first known r
Externí odkaz:
https://doaj.org/article/e6ab6e7535bb4a9bac4f7be7001c7a0b
Autor:
Aaron St‐Laurent, David Zielinski, Adam Qazi, Aceel AlAwadi, Athari Almajed, Darryl J. Adamko, Tareq Alabdoulsalam, Jackie Chiang, Michael Derynck, Chris Gerdung, Karen Kam, Sherri L. Katz, Ian MacLusky, Kevan Mehta, Dimas Mateos, The Thanh D. Nguyen, Jean‐Paul Praud, Frederic Proulx, Michael Seear, Mary Jane Smith, David Wensley, Reshma Amin
Publikováno v:
Pediatric Pulmonology. 58:140-151
To describe the current clinical practice patterns of Canadian pediatric respirologists at pediatric tertiary care institutions regarding chronic tracheostomy tube care and management of home invasive ventilation.A pediatric respirologist/pediatricia
Autor:
Emmanuelle Brochiero, Pearce G. Wilcox, Lara Bilodeau, Mays Merjaneh, Nancy Morrison, Lisa J. Strug, Angela Hillaby, Julie Avolio, Katherine Keenan, Lynda Lazosky, Jennifer Itterman, Michael D. Parkins, Émilie Maille, Naim Panjwani, Mark A. Chilvers, Lei Sun, Jennifer Pike, Richard van Wylick, Yu Chung Lin, Raquel Consunji-Araneta, Caroline Burgess, Lorna Kosteniuk, Lori Fairservice, Christine Donnelly, Natalie Henderson, Damien Adam, Scott M. Blackman, Dimas Mateos-Corral, Bradley S. Quon, Mary Jackson, Janna Brusky, Felix Ratjen, Elizabeth Tullis, Garry R. Cutting, Clare Smith, Melinda Solomon, Harriet Corvol, Valerie Levesque, Daniel Hughes, Fan Lin, Nathalie Vadeboncoeur, Candice Bjornson, Yves Berthiaume, Guillaume Côté-Maurais, Anne L. Stephenson, Winnie Leung, Shaikh Iqbal, Jiafen Gong, Johanna M. Rommens, Mary Jane Smith, Paula Barrett, Joe Reisman, Terry Viczko, Katie Griffin, Danny Veniott, Vanessa McMahon, Stéphanie Bégin, April Price, Emma Karlsen, Andrea Dale
Publikováno v:
Genetics in Medicine
Purpose Cystic fibrosis (CF), caused by pathogenic variants in the CF transmembrane conductance regulator (CFTR), affects multiple organs including the exocrine pancreas, which is a causal contributor to cystic fibrosis–related diabetes (CFRD). Unt
Autor:
Scott Mastromatteo, Angela Chen, Jiafen Gong, Fan Lin, Bhooma Thiruvahindrapuram, Wilson WL Sung, Joe Whitney, Zhuozhi Wang, Rohan V Patel, Katherine Keenan, Anat Halevy, Naim Panjwani, Julie Avolio, Cheng Wang, Guillaume Côté-Maurais, Stéphanie Bégin, Damien Adam, Emmanuelle Brochiero, Candice Bjornson, Mark Chilvers, April Price, Michael Parkins, Richard van Wylick, Dimas Mateos-Corral, Daniel Hughes, Mary Jane Smith, Nancy Morrison, Elizabeth Tullis, Anne L Stephenson, Pearce Wilcox, Bradley S Quon, Winnie M Leung, Melinda Solomon, Lei Sun, Felix Ratjen, Lisa J Strug
Phasing of heterozygous alleles is critical for interpretation of cis-effects of disease-relevant variation. For population studies, phase is often inferred from external data but read-based phasing approaches that span long genomic distances would b
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f2bee7a4d3021ec41ff4c5915cdb67a8
https://doi.org/10.1101/2022.03.28.486092
https://doi.org/10.1101/2022.03.28.486092
Autor:
Jonathan McCormick, C. Donnelly, Colin Wallis, G. Padley, C. Dawson, M. Connon, S. Ghayyda, A. Macleod, Rebecca Thursfield, J. Wallenburg, P. Barrett, Dimas Mateos-Corral, April Price, N. Westrupp, S. MacFarlane, Jane C. Davies, Keith G. Brownlee, E. Fleischer, Eric W.F.W. Alton, L. Brown, Malcolm Brodlie, M. Surette, F. Baxter, C. Edmondson, Daniel Hughes, Paul Seddon, L. Blaikie, Andrew Bush, Richard Brooker, C. Olden, D. Rice, J. Itterman
Background CF is traditionally assessed in clinic. It is unclear if home monitoring of young people with CF is feasible or acceptable. The COVID-19 pandemic has made home monitoring more of a necessity. We report the results of CLIMB-CF, exploring ho
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a72941062ecb678f8fced5d56e3eb52
http://hdl.handle.net/10044/1/93556
http://hdl.handle.net/10044/1/93556
Autor:
Amanda Jober, Joe Reisman, Richard van Wylick, Christine Donnelly, Melinda Solomon, Joanne Hammel, Felix Ratjen, Jacky Au, Annie Dupuis, Katherine Keenan, Candice Bjornson, Shaikh Iqbal, Michael Derynck, Lori Fairservice, J. Itterman, Jocelyn Arpin, Tanja Gonska, Natalie Henderson, Lenna Morgan, April Price, Tamizan Kherani, Mark A. Chilvers, Lorna Kosteniuk, Janna Brusky, D. Hughes, Mary Jane Smith, Caroline Burgess, Dimas Mateos-Corral
Publikováno v:
Pediatrics. 148(6)
BACKGROUND AND OBJECTIVES Cystic fibrosis (CF) screen–positive infants with an inconclusive diagnosis (CFSPID) are infants in whom sweat testing and genetic analysis does not resolve a CF diagnosis. Lack of knowledge about the health outcome of the