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51

80. A novel mutation in the HEX B gene causing infantile Sandhoff disease: A high throughput semi-automated method for genetic screening of newborns

Denis Lehotay, Braden Fitterer, Nick Antonishyn, Roy Gravel, Robin Casey

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 41 KB

english, 2010

52

Molecular cloning, expression and physical mapping of the human methionine synthase reductase gene

Daniel Leclerc, Marie-Hélène Odièvre, Qing Wu, Aaron Wilson, Jack J Huizenga, Rima Rozen, Stephen W Scherer, Roy A Gravel

Journal:

Year:

1999

Language:

english

File:

PDF, 495 KB

english, 1999

53

Biotin-dependent Carboxylase Deficiencies (Propionyl-CoA and Pyruvate Carboxylases)

ROY A. GRAVEL, BRIAN H. ROBINSON

Journal:

Annals of the New York Academy of Sciences

Year:

1985

Language:

english

File:

PDF, 702 KB

english, 1985

54

Hexosaminidase B deficiency (Sandhoff disease) profoundly alters the enteric nervous system in mice

Keith A. Sharkey, Catherine M. Keenan, Wallace K. Macnaughton, Roy A. Gravel

Journal:

Gastroenterology

Year:

2001

Language:

english

File:

PDF, 368 KB

english, 2001

55

Effects of polymorphisms of methionine synthase and methionine synthase reductase on total plasma homocysteine in the NHLBI Family Heart Study

Paul F Jacques, Andrew G Bostom, Jacob Selhub, Sharron Rich, R Curtis Ellison, John H Eckfeldt, Roy A Gravel, Rima Rozen

Journal:

Atherosclerosis

Year:

2003

Language:

english

File:

PDF, 117 KB

english, 2003

56

Propionic acidemia: A clinical update

Barry Wolf, Y. Edward Hsia, Lawrence Sweetman, Roy Gravel, David J. Harris, William L. Nyhan

Journal:

The Journal of Pediatrics

Year:

1981

Language:

english

File:

PDF, 1.07 MB

english, 1981

57

Lactic acidosis in biotin-responsive multiple carboxylase deficiency caused by holocarboxylase synthetase deficiency of early and late onset

W. Geoffrey Sherwood, Mary Saunders, Brian H. Robinson, Thomas Brewster, Roy A. Gravel

Journal:

The Journal of Pediatrics

Year:

1982

Language:

english

File:

PDF, 462 KB

english, 1982

58

A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease

Zhang, Zhi-Xin, Wakamatsu, Nobuaki, Akerman, Beverly R., Mules, Emily H., Thomas, George H., Gravel, Roy A.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 3.55 MB

english, 1995

59

BLOOD PRESSURE AND ATRIAL FIBRILLATION: A COMBINED ATRIAL FIBRILLATION-CONGESTIVE HEART FAILURE AND ATRIAL FIBRILLATION FOLLOW-UP INVESTIGATION OF RHYTHM MANAGEMENT ANALYSIS

White, Michel, Tremblay-Gravel, Maxime, Roy, Denis, Leduc, Hugues, Wyse, D. George, Cadrin-Tourigny, Julia, Macle, Laurent, Dubuc, Marc, Andrade, Jason, Rivard, Lena, Guerra, Peter G., Thibault, Berna

Journal:

Journal of the American College of Cardiology

Year:

2013

Language:

english

File:

PDF, 147 KB

english, 2013

60

MENTAL DISORDERS DUE TO CORTICOTROPHIN AND CORTISONE

Guise, Kevin S., Korneluka, Robert G., Waye, John, Lamhonwah, Anne-Marie, Quan, Frank, Palmer, Robin, Ganschow, Roger E., Sly, William S., Gravel, Roy A.

Journal:

Year:

1955

Language:

english

File:

PDF, 197 KB

english, 1955

61

Holocarboxylase synthetase: A multitalented protein with roles in biotin transfer, gene regulation and chromatin dynamics

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 164 KB

english, 2014

62

BLOOD PRESSURE LEVELS MODULATE MORTALITY IN PATIENTS WITH ATRIAL FIBRILLATION AND HEART FAILURE WITH DEPRESSED BUT NOT IN PATIENTS WITH PRESERVED EJECTION FRACTION

White, Michel, Tremblay-Gravel, Maxime, Khairy, Paul, Roy, Denis, Leduc, Hugues, Wyse, D. George, Ahmed, Ali, Cadrin-Tourigny, Julia, Macle, Laurent, Dubuc, Marc, Andrade, Jason, Rivard, Lena, Guerra,

Journal:

Journal of the American College of Cardiology

Year:

2013

Language:

english

File:

PDF, 235 KB

english, 2013

63

Transgenerational effects of abnormal folate metabolism on fetal and placental development

Padmanabhan, Nisha, Jia, Wendy, Geary-Joo, Colleen, Wu, Xuchu, Ferguson-Smith, Anne, Gravel, Roy, Cross, James, Watson, Erica

Journal:

Year:

2013

Language:

english

File:

PDF, 42 KB

english, 2013

64

Characterization of the murine β-hexosaminidase (HEXB) gene

Triggs-Raine, Barbara L., Benoit, Guylaine, Salo, Timothy J., Trasler, Jacquetta M., Gravel, Roy A.

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

1994

Language:

english

File:

PDF, 791 KB

english, 1994

65

Rapid and reliable dideoxy sequencing of double-stranded DNA

Korneluk, Robert G., Quan, Frank, Gravel, Roy A.

Journal:

Year:

1985

Language:

english

File:

PDF, 3.64 MB

english, 1985

66

Blood Pressure Levels Modulate Mortality in Patients With Atrial Fibrillation and Heart Failure With Depressed but not in Patients With Preserved Ejection Fraction

Tremblay-Gravel, M., Khairy, P., Roy, D., Leduc, H., Wyse, D., Cadrin-Tourigny, J., Macle, L., Dubuc, M., Andrade, J., Rivard, L., Guerra, P.G., Thibault, B., Talajic, M., White, M.

Journal:

Canadian Journal of Cardiology

Year:

2013

Language:

english

File:

PDF, 183 KB

english, 2013

67

Two distinct mutations at the same site in the PCCB gene in propionic acidemia

Lamhonwah, Anne-Marie, Troxel, Charles E., Schuster, Sheldon, Gravel, Roy A.

Journal:

Year:

1990

Language:

english

File:

PDF, 1017 KB

english, 1990

68

[Part 1: Biological Sciences] || Evidence for Two Dissimilar Polypeptide Chains in the β2Subunit of Hexosaminidase

Don J. Mahuran, Florence Tsui, Roy A. Gravel and J. Alexander Lowden

Journal:

Proceedings of the National Academy of Sciences

Year:

1982

Language:

english

File:

PDF, 1.04 MB

english, 1982

69

Isolation of cDNA Clones Coding for the β Subunit of Human β -hexosaminidase

Brian F. O'Dowd, Frank Quan, Huntington F. Willard, Anne-Marie Lamhonwah, Robert G. Korneluk, J. Alexander Lowden, Roy A. Gravel and Don J. Mahuran

Journal:

Proceedings of the National Academy of Sciences

Year:

1985

Language:

english

File:

PDF, 1.38 MB

english, 1985

70

Isolation of cDNA Clones Coding for the α and β Chains of Human Propionyl-CoA Carboxylase: Chromosomal Assignments and DNA Polymorphisms Associated with PCCA and PCCB Genes

Anne-Marie Lamhonwah, Teresa J. Barankiewicz, Huntington F. Willard, Don J. Mahuran, Frank Quan and Roy A. Gravel

Journal:

Proceedings of the National Academy of Sciences

Year:

1986

Language:

english

File:

PDF, 975 KB

english, 1986

71

Cloning, Sequencing, and Expression of cDNA for Human β -glucuronidase

Akihiro Oshima, John W. Kyle, Raymond D. Miller, Joseph W. Hoffmann, Penelope P. Powell, Jeffrey H. Grubb, William S. Sly, Michael Tropak, Kevin S. Guise and Roy A. Gravel

Journal:

Proceedings of the National Academy of Sciences

Year:

1987

Language:

english

File:

PDF, 942 KB

english, 1987

72

Genetic Complementation in Heterokaryons of Human Fibroblasts Defective in Cobalamin Metabolism

Roy A. Gravel, Maurice J. Mahoney, Frank H. Ruddle and Leon E. Rosenberg

Journal:

Proceedings of the National Academy of Sciences

Year:

1975

Language:

english

File:

PDF, 1.41 MB

english, 1975

73

Biological Detection of Specific mRNA Molecules by Microinjection

Chih-Ping Liu, Doris L. Slate, Roy Gravel and Frank H. Ruddle

Journal:

Proceedings of the National Academy of Sciences

Year:

1979

Language:

english

File:

PDF, 1.10 MB

english, 1979

74

Analysis of Genetic Complementation by Whole-Cell Microtechniques in Fibroblast Heterokaryons

Roy A. Gravel, Amy Leung, Mary Saunders and Peter Hosli

Journal:

Proceedings of the National Academy of Sciences

Year:

1979

Language:

english

File:

PDF, 1.43 MB

english, 1979

75

Structure of MMACHC Reveals an Arginine-Rich Pocket and a Domain-Swapped Dimer for Its B 12 Processing Function

Froese, D. Sean, Krojer, Tobias, Wu, Xuchu, Shrestha, Roshi, Kiyani, Wasim, von Delft, Frank, Gravel, Roy A., Oppermann, Udo, Yue, Wyatt W.

Journal:

Year:

2012

Language:

english

File:

PDF, 4.10 MB

english, 2012

76

Structural Impact of Human and Escherichia coli Biotin Carboxyl Carrier Proteins on Biotin Attachment

Healy, Shannon, McDonald, Megan K., Wu, Xuchu, Yue, Wyatt W., Kochan, Grazyna, Oppermann, Udo, Gravel, Roy A.

Journal:

Year:

2010

Language:

english

File:

PDF, 2.43 MB

english, 2010

77

Oligosaccharide structure and amino acid sequence of the major glycopeptides of mature human .beta.-hexosaminidase

O'Dowd, Brian F., Cumming, Dale A., Gravel, Roy A., Mahuran, Don

Journal:

Year:

1988

Language:

english

File:

PDF, 1.61 MB

english, 1988

78

Systolic blood pressure and mortality in patients with atrial fibrillation and heart failure: insights from the AFFIRM and AF-CHF studies

Tremblay-Gravel, Maxime, Khairy, Paul, Roy, Denis, Leduc, Hugues, Wyse, D. George, Cadrin-Tourigny, Julia, Macle, Laurent, Dubuc, Marc, Andrade, Jason, Rivard, Lena, Guerra, Peter G., Thibault, Bernar

Journal:

European Journal of Heart Failure

Year:

2014

Language:

english

File:

PDF, 225 KB

english, 2014

79

Isolation of a cDNA Encoding Human Holocarboxylase Synthetase by Functional Complementation of a Biotin Auxotroph of Escherichia coli

Alfonso León-Del-Rio , Daniel Leclerc, Beverly Akerman, Nobuaki Wakamatsu and Roy A. Gravel

Journal:

Proceedings of the National Academy of Sciences

Year:

1995

Language:

english

File:

PDF, 390 KB

english, 1995

80

Structures of the Human GTPase MMAA and Vitamin B 12 -dependent Methylmalonyl-CoA Mutase and Insight into Their Complex Formation

Froese, D. Sean, Kochan, Grazyna, Muniz, João R. C., Wu, Xuchu, Gileadi, Carina, Ugochukwu, Emelie, Krysztofinska, Ewelina, Gravel, Roy A., Oppermann, Udo, Yue, Wyatt W.

Journal:

Journal of Biological Chemistry

Year:

2010

Language:

english

File:

PDF, 3.05 MB

english, 2010

81

Choline-O-sulphate utilization in Aspergillus nidulans

Journal:

Genetics Research

Year:

1976

Language:

english

File:

PDF, 1.05 MB

english, 1976

82

Paradoxical Regulation of Biotin Utilization in Brain and Liver and Implications for Inherited Multiple Carboxylase Deficiency

Pacheco-Alvarez, Diana, Solórzano-Vargas, R. Sergio, Gravel, Roy A., Cervantes-Roldán, Rafael, Velázquez, Antonio, León-Del-Río, Alfonso

Journal:

Journal of Biological Chemistry

Year:

2004

Language:

english

File:

PDF, 302 KB

english, 2004

83

Polymerase chain reaction detection of potentially pathogenic free-living amoebae in dental units

Leduc, Annie, Gravel, Sabrina, Abikhzer, Jérémie, Roy, Stéphane, Barbeau, Jean

Journal:

Canadian Journal of Microbiology

Year:

2012

File:

PDF, 108 KB

2012

84

Oral Dimenhydrinate Versus Placebo in Children With Gastroenteritis: A Randomized Controlled Trial

Gouin, S., Vo, T.-T., Roy, M., Lebel, D., Gravel, J.

Journal:

Year:

2012

Language:

english

File:

PDF, 547 KB

english, 2012

85

Human mitochondrial propionyl-CoA carboxylase: localization of the N-terminus of the pro- and mature α chains in the deduced primary sequence of a full-length cDNA

Lamhonwah, Anne-Marie, Mahuran, Don, Gravel, Roy A.

Journal:

Nucleic Acids Research

Year:

1989

Language:

english

File:

PDF, 83 KB

english, 1989

86

Interallelic complementation of β-subunit defects in fibroblasts of patients with propionyl-CoA carboxylase deficiency microinjected with mutant cDNA constructs

Loyer, Magali, Leclerc, Daniel, Gravel, Roy A.

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.52 MB

english, 1995

87

Blood Pressure and Atrial Fibrillation: A Combined AF-CHF and AFFIRM Analysis

TREMBLAY-GRAVEL, MAXIME, WHITE, MICHEL, ROY, DENIS, LEDUC, HUGUES, WYSE, D. GEORGE, CADRIN-TOURIGNY, JULIA, SHOHOUDI, AZADEH, MACLE, LAURENT, DUBUC, MARC, ANDRADE, JASON, RIVARD, LENA, GUERRA, PETER G

Journal:

Journal of Cardiovascular Electrophysiology

Year:

2015

Language:

english

File:

PDF, 365 KB

english, 2015

88

Screening for Carriers of Tay-Sachs Disease among Ashkenazi Jews

Triggs-Raine, Barbara L., Feigenbaum, Annette S.J., Natowicz, Marvin, Skomorowski, Marie-Anne, Schuster, Sheldon M., Clarke, Joe T.R., Mahuran, Don J., Kolodny, Edwin H., Gravel, Roy A.

Journal:

Boston Medical and Surgical Journal

Year:

1990

Language:

english

File:

PDF, 1.17 MB

english, 1990

89

Genetic disorders of vitamin B12 metabolism: eight complementation groups – eight genes

Froese, D. Sean, Gravel, Roy A.

Journal:

Expert Reviews in Molecular Medicine

Year:

2010

Language:

english

File:

PDF, 911 KB

english, 2010

90

Prenatal Administration of Biotin in Biotin Responsive Multiple Carboxylase Deficiency

Roth, Karl S, Yang, William, Allan, Lorraine, Saunders, Mary, Gravel, Roy A, Dakshinamurti, Krishnamurti

Journal:

Pediatric Research

Year:

1982

Language:

english

File:

PDF, 281 KB

english, 1982

91

Progress in Medical Genetics, Vol. 8by Arthur G. STEINBERG; Alexander G. Bearn

Review by: Roy Gravel

Journal:

American Scientist

Year:

1973

Language:

english

File:

PDF, 358 KB

english, 1973

92

Myoblast Transplantation in Monkeys: Control of Immune Response by FK506

Kinoshita, I, Roy, R, Dugré, F J, Gravel, C, Roy, B, Goulet, M, Asselin, I, Tremblay, J P

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

1996

File:

PDF, 693 KB

1996

93

Effects of Repeated Distension Arthrographies Combined with a Home Exercise Program Among Adults with Idiopathic Adhesive Capsulitis of the Shoulder

Piotte, France, Gravel, Denis, Moffet, H??l??ne, Fliszar, Evelyne, Roy, Andr??, Nadeau, Sylvie, B??dard, Danielle, Roy, Guylaine

Journal:

American Journal of Physical Medicine & Rehabilitation

Year:

2004

Language:

english

File:

PDF, 547 KB

english, 2004

94

Impacts des barrages sur les débits annuels minimums en fonction des régimes hydrologiques artificialisés au Québec (Canada); Impacts of dams on the annual minimum discharges according to artificialised hydrologic regimes in Quebec (Canada);

Assani, A. A., Gravel, É., Buffin-Bélanger, T., Roy, A. G.

Journal:

Revue des sciences de l'eau

Year:

2005

File:

PDF, 1.44 MB

2005

95

Should young children with TBI be compared to community or orthopedic control participants?

Beauchamp, Miriam Helen, Landry-Roy, Catherine, Gravel, Jocelyn, Beaudoin, Cindy, Bernier, Annie

Journal:

Journal of Neurotrauma

Year:

2017

Language:

english

File:

PDF, 504 KB

english, 2017

96

Biochemistry and Genetics of Tay-Sachs Disease

Gravel, Roy A., Triggs-Raine, Barbara L., Mahuran, Don J.

Journal:

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

Year:

1991

Language:

english

File:

PDF, 533 KB

english, 1991

97

Holocarboxylase Synthetase: A Moonlighting Transcriptional Coregulator of Gene Expression and a Cytosolic Regulator of Biotin Utilization

León-Del-Río, Alfonso, Valadez-Graham, Viviana, Gravel, Roy A.

Journal:

Annual Review of Nutrition

Year:

2017

Language:

english

File:

PDF, 2.12 MB

english, 2017

98

LECTIN-MEDIATED UPTAKE OF LYSOSOMAL HYDROLASES BY HUMAN FIBROBLASTS

Juliano, Rudy L, Moore, Maureen R, Gravel, Roy, Callahan, John W, Lowden, J Alexander

Journal:

Pediatric Research

Year:

1977

Language:

english

File:

PDF, 141 KB

english, 1977

99

1192 PRENATAL THERAPY OF HOLOCARBOXYLASE SYNTHETASE DEFICIENCY

Yang, William, Allan, Lorraine, Saunders, Mary, Gravel, Roy, Dakshinamurti, Krishnamurti, Roth, Karl S

Journal:

Pediatric Research

Year:

1981

Language:

english

File:

PDF, 144 KB

english, 1981

100

Behavioral consequences of mild traumatic brain injury in preschoolers

Gagner, Charlotte, Landry-Roy, Catherine, Bernier, Annie, Gravel, Jocelyn, Beauchamp, Miriam H.

Journal:

Psychological Medicine

Year:

2017

Language:

english

File:

PDF, 347 KB

english, 2017