Works matching AU Sparkes, Rebecca

Results: 19

Cardiac features of a novel autosomal recessive dilated cardiomyopathic syndrome due to defective importation of mitochondrial protein.

Published in:

Cardiology in the Young, 2007, v. 17, n. 2, p. 215, doi. 10.1017/S1047951107000042

By:

Sparkes, Rebecca;
Patton, David;
Bernier, Francois

Publication type:

Article

Duplication of the 22q11.2 region associated with congenital cardiac disease.

Published in:

Cardiology in the Young, 2005, v. 15, n. 2, p. 229, doi. 10.1017/S1047951105000466

By:

Sparkes, Rebecca;
Chernos, Judy;
Dicke, Franciscus

Publication type:

Article

Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.

Published in:

2021

By:

Howie, Alison H.;
Tingley, Kylie;
Inbar-Feigenberg, Michal;
Mitchell, John J.;
Butcher, Nancy J.;
Offringa, Martin;
Smith, Maureen;
Angel, Kim;
Gentle, Jenifer;
Wyatt, Alexandra;
Campeau, Philippe M.;
Chan, Alicia;
Chakraborty, Pranesh;
El Turk, Farah;
Mamak, Eva;
Mhanni, Aizeddin;
Skidmore, Becky;
Sparkes, Rebecca;
Stockler, Sylvia;
Potter, Beth K.

Publication type:

corrected article

Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.

Published in:

2021

By:

Howie, Alison H.;
Tingley, Kylie;
Inbar-Feigenberg, Michal;
Mitchell, John J.;
Butcher, Nancy J.;
Offringa, Martin;
Smith, Maureen;
Angel, Kim;
Gentle, Jenifer;
Wyatt, Alexandra;
Campeau, Philippe M.;
Chan, Alicia;
Chakraborty, Pranesh;
El Turk, Farah;
Mamak, Eva;
Mhanni, Aizeddin;
Skidmore, Becky;
Sparkes, Rebecca;
Stockler, Sylvia;
Potter, Beth K.

Publication type:

Literature Review

Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys.

Published in:

2021

By:

Howie, Alison H.;
Tingley, Kylie;
Inbar-Feigenberg, Michal;
Mitchell, John J.;
Butcher, Nancy J.;
Offringa, Martin;
Smith, Maureen;
Angel, Kim;
Gentle, Jenifer;
Wyatt, Alexandra;
Campeau, Philippe M.;
Chan, Alicia;
Chakraborty, Pranesh;
El Turk, Farah;
Mamak, Eva;
Mhanni, Aizeddin;
Skidmore, Becky;
Sparkes, Rebecca;
Stockler, Sylvia;
Potter, Beth K.

Publication type:

journal article

Vitamin B12 Deficiency in Infancy: The Case for Screening.

Published in:

2016

By:

Singh, Gurpreet;
Le, Doan;
Schnabl, Kareena;
Leaker, Michael T.;
Steele, MacGregor;
Sparkes, Rebecca L.

Publication type:

journal article

Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.

Published in:

Nature Genetics, 2000, v. 26, n. 3, p. 319, doi. 10.1038/81619

By:

Bech-Hansen, N.Torben;
Naylor, Margaret J.;
Maybaum, Tracy A.;
Sparkes, Rebecca L.;
Koop, Ben;
Birch, David G.;
Bergen, Arthur A.B.;
Prinsen, Clemens F.M.;
Polomeno, Robert C.;
Gal, Andreas;
Drack, Arlene V.;
Musarella, Maria A.;
Jacobson, Samuel G.;
Young, Rockefeller S.L.;
Weleber, Richard G.

Publication type:

Article

Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.

Published in:

BMC Pediatrics, 2015, v. 15, n. 1, p. 1, doi. 10.1186/s12887-015-0323-x

By:

Khangura, Sara D.;
Karaceper, Maria D.;
Trakadis, Yannis;
Mitchell, John J.;
Chakraborty, Pranesh;
Tingley, Kylie;
Coyle, Doug;
Grosse, Scott D.;
Kronick, Jonathan B.;
Laberge, Anne-Marie;
Little, Julian;
Prasad, Chitra;
Sikora, Lindsey;
Siriwardena, Komudi;
Sparkes, Rebecca;
Speechley, Kathy N.;
Stockler, Sylvia;
Wilson, Brenda J.;
Wilson, Kumanan;
Zayed, Reem

Publication type:

Article

Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease.

Published in:

2015

By:

Khangura, Sara D;
Karaceper, Maria D;
Trakadis, Yannis;
Mitchell, John J;
Chakraborty, Pranesh;
Tingley, Kylie;
Coyle, Doug;
Grosse, Scott D;
Kronick, Jonathan B;
Laberge, Anne-Marie;
Little, Julian;
Prasad, Chitra;
Sikora, Lindsey;
Siriwardena, Komudi;
Sparkes, Rebecca;
Speechley, Kathy N;
Stockler, Sylvia;
Wilson, Brenda J;
Wilson, Kumanan;
Zayed, Reem

Publication type:

journal article

3‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS/MS method.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 445, doi. 10.1002/jimd.12486

By:

Sasarman, Florin;
Ferdinandusse, Sacha;
Sinasac, David S.;
Fung, Ernest;
Sparkes, Rebecca;
Reeves, Melanie;
Rombough, Catherine;
Sass, Jörn Oliver;
Voit, Renate;
Ruiter, Jos P. N.;
Koster, Janet;
Waterham, Hans R.;
Pasquini, Elisabetta;
Donati, Maria A.;
Marquardt, Thorsten;
Wanders, Ronald J. A.;
Al‐Hertani, Walla

Publication type:

Article

Child and family experiences with inborn errors of metabolism: a qualitative interview study with representatives of patient groups.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 139, doi. 10.1007/s10545-015-9881-1

By:

Khangura, Sara;
Tingley, Kylie;
Chakraborty, Pranesh;
Coyle, Doug;
Kronick, Jonathan;
Laberge, Anne-Marie;
Little, Julian;
Miller, Fiona;
Mitchell, John;
Prasad, Chitra;
Siddiq, Shabnaz;
Siriwardena, Komudi;
Sparkes, Rebecca;
Speechley, Kathy;
Stockler, Sylvia;
Trakadis, Yannis;
Wilson, Brenda;
Wilson, Kumanan;
Potter, Beth

Publication type:

Article

Interstitial deletion of 11q in a mother and fetus: implications of directly transmitted chromosomal imbalances for prenatal genetic counseling.

Published in:

Prenatal Diagnosis, 2009, v. 29, n. 3, p. 283, doi. 10.1002/pd.2209

By:

Sparkes, Rebecca L.;
Shetty, Shashirekha;
Chernos, Judy E.;
Mefford, Heather C.;
Micheil Innes, A.

Publication type:

Article

Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey.

Published in:

Patient, 2022, v. 15, n. 2, p. 171, doi. 10.1007/s40271-021-00538-8

By:

Chow, Andrea J.;
Pugliese, Michael;
Tessier, Laure A.;
Chakraborty, Pranesh;
Iverson, Ryan;
Coyle, Doug;
Kronick, Jonathan B.;
Wilson, Kumanan;
Hayeems, Robin;
Al-Hertani, Walla;
Inbar-Feigenberg, Michal;
Jain-Ghai, Shailly;
Laberge, Anne-Marie;
Little, Julian;
Mitchell, John J.;
Prasad, Chitra;
Siriwardena, Komudi;
Sparkes, Rebecca;
Speechley, Kathy N.;
Stockler, Sylvia

Publication type:

Article

PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only.

Published in:

American Journal of Medical Genetics. Part A, 2021, v. 185, n. 10, p. 2959, doi. 10.1002/ajmg.a.62383

By:

Benner, Anne;
Alhaidan, Yazeid;
Lines, Matthew A.;
Brusgaard, Klaus;
De Leon, Diva D.;
Sparkes, Rebecca;
Frederiksen, Anja L.;
Christesen, Henrik T.

Publication type:

Article

Response to correspondence of NDUFS4-related Leigh syndrome in Hutterites.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 5, p. 1452, doi. 10.1002/ajmg.a.38227

By:

Lamont, Ryan E.;
Beaulieu, Chandree L.;
Bernier, Francois P.;
Sparkes, Rebecca;
Innes, A. Micheil;
Jackel‐Cram, Candice;
Ober, Carole;
Parboosingh, Jillian S.;
Lemire, Edmond G.

Publication type:

Article

A novel NDUFS4 frameshift mutation causes Leigh disease in the Hutterite population.

Published in:

American Journal of Medical Genetics. Part A, 2017, v. 173, n. 3, p. 596, doi. 10.1002/ajmg.a.37983

By:

Lamont, Ryan E.;
Beaulieu, Chandree L.;
Bernier, Francois P.;
Sparkes, Rebecca;
Innes, A. Micheil;
Jackel‐Cram, Candice;
Ober, Carole;
Parboosingh, Jillian S.;
Lemire, Edmond G.

Publication type:

Article

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study.

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2272, doi. 10.1002/ajmg.a.37172

By:

Burton, Barbara K.;
Berger, Kenneth I.;
Lewis, Gregory D.;
Tarnopolsky, Mark;
Treadwell, Marsha;
Mitchell, John J.;
Muschol, Nicole;
Jones, Simon A.;
Sutton, V. Reid;
Pastores, Gregory M.;
Lau, Heather;
Sparkes, Rebecca;
Genter, Fred;
Shaywitz, Adam J.;
Harmatz, Paul

Publication type:

Article

Validation of the applied biosystems Prism™ 377 automated sequencer for forensic short tandem repeat analysis.

Published in:

Electrophoresis, 1996, v. 17, n. 10, p. 1550, doi. 10.1002/elps.1150171008

By:

Frazier, Rachael R. E.;
Millican, Emma S.;
Watson, Stephanie K.;
Oldroyd, Nicola J.;
Sparkes, Rebecca L.;
Taylor, Karen M.;
Panchal, Sasikala;
Bark, Linda;
Kimpton, Colin P.;
Gill, Peter D.

Publication type:

Article

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

Published in:

Human Mutation, 2015, v. 36, n. 11, p. 1048, doi. 10.1002/humu.22856

By:

Ng, Bobby G.;
Raymond, Kimiyo;
Kircher, Martin;
Buckingham, Kati J.;
Wood, Tim;
Shendure, Jay;
Nickerson, Deborah A.;
Bamshad, Michael J.;
Wong, Jonathan T.S.;
Monteiro, Fabiola Paoli;
Graham, Brett H.;
Jackson, Sheryl;
Sparkes, Rebecca;
Scheuerle, Angela E.;
Cathey, Sara;
Kok, Fernando;
Gibson, James B.;
Freeze, Hudson H.

Publication type:

Article