Pranesh Chakraborty
Pranesh Chakraborty
Associate Professor, Department of Pediatrics, University of Ottawa
Подтвержден адрес электронной почты в домене cheo.on.ca - Главная страница
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project
D McHugh, CA Cameron, JE Abdenur, M Abdulrahman, O Adair, ...
Genetics in Medicine 13 (3), 230-254, 2011
The association of vitamin D status with pediatric critical illness
JD McNally, K Menon, P Chakraborty, L Fisher, KA Williams, ...
Pediatrics 130 (3), 429-436, 2012
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)
PK Chakraborty, K Schmitz-Abe, EK Kennedy, H Mamady, T Naas, ...
Blood, The Journal of the American Society of Hematology 124 (18), 2867-2871, 2014
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency
GL Arnold, J Van Hove, D Freedenberg, A Strauss, N Longo, B Burton, ...
Molecular genetics and metabolism 96 (3), 85-90, 2009
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype
N Braverman, L Chen, P Lin, C Obie, G Steel, P Douglas, PK Chakraborty, ...
Human mutation 20 (4), 284-297, 2002
Dried blood spot analysis by digital microfluidics coupled to nanoelectrospray ionization mass spectrometry
SCC Shih, H Yang, MJ Jebrail, R Fobel, N McIntosh, OY Al-Dirbashi, ...
Analytical chemistry 84 (8), 3731-3738, 2012
Enhanced interpretation of newborn screening results without analyte cutoff values
G Marquardt, R Currier, D McHugh, D Gavrilov, MJ Magera, D Matern, ...
Genetics in medicine 14 (7), 648-655, 2012
DNM1L-related mitochondrial fission defect presenting as refractory epilepsy
JR Vanstone, AM Smith, S McBride, T Naas, M Holcik, G Antoun, ...
European Journal of Human Genetics 24 (7), 1084-1088, 2016
A digital microfluidic method for dried blood spot analysis
MJ Jebrail, H Yang, JM Mudrik, NM Lafreniere, C McRoberts, ...
Lab on a Chip 11 (19), 3218-3224, 2011
Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the …
SG Banugaria, SN Prater, TT Patel, SM DeArmey, C Milleson, KB Sheets, ...
PLoS One 8 (6), e67052, 2013
A systematic review of the association between coping strategies and quality of life among caregivers of children with chronic illness and/or disability
A Fairfax, J Brehaut, I Colman, L Sikora, A Kazakova, P Chakraborty, ...
BMC pediatrics 19, 1-16, 2019
A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)
DH Wiseman, A May, S Jolles, P Connor, C Powell, MM Heeney, ...
Blood, The Journal of the American Society of Hematology 122 (1), 112-123, 2013
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit
H Daoud, SM Luco, R Li, E Bareke, C Beaulieu, O Jarinova, N Carson, ...
Cmaj 188 (11), E254-E260, 2016
The lived experience of hope among parents of a child with Duchenne muscular dystrophy: perceiving the human being beyond the illness
A Samson, E Tomiak, J Dimillo, R Lavigne, S Miles, M Choquette, ...
Chronic illness 5 (2), 103-114, 2009
Newborn screening for cystic fibrosis
PM Farrell, EH Mischler, Cystic Fibrosis Neonatal Screening Study Group
Advances in pediatrics 39 (1), 35-70, 1992
Pyridoxine-dependent epilepsy in zebrafish caused by Aldh7a1 deficiency
IA Pena, Y Roussel, K Daniel, K Mongeon, D Johnstone, ...
Genetics 207 (4), 1501-1518, 2017
Estimate of the contemporary live-birth prevalence of recurrent 22q11. 2 deletions: a cross-sectional analysis from population-based newborn screening
C Blagojevic, T Heung, M Theriault, A Tomita-Mitchell, P Chakraborty, ...
Canadian Medical Association Open Access Journal 9 (3), E802-E809, 2021
Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion
PJ Ainsworth, PK Chakraborty, R Weksberg
Human mutation 9 (5), 452-457, 1997
Experiences of caregivers of children with inherited metabolic diseases: a qualitative study
S Siddiq, BJ Wilson, ID Graham, M Lamoureux, SD Khangura, K Tingley, ...
Orphanet journal of rare diseases 11, 1-10, 2016
Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood
S Lapalme-Remis, EC Lewis, C De Meulemeester, P Chakraborty, ...
Neurology 85 (10), 861-865, 2015
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