Mutations of the Flavin-Containing Monooxygenase Gene (FMO3) cause Trimethylaminuria, a Defect in Detoxication
Treacy, E. P., Akerman, B. R., Chow, L. M. L., Youil, R., Lin, C. Bibeau, J., Bruce, A. G., Knight, M., Danks, D. M., Cashman, J. R., Forrest, S. M.
Published in Human molecular genetics (01.05.1998)
Published in Human molecular genetics (01.05.1998)
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Dramatically Different Phenotypes in Mouse Models of Human Tay-Sachs and Sandhoff Diseases
Phaneuf, Daniel, Wakamatsu, Nobuaki, Huang, Jing-Qi, Borowski, Anita, Peterson, Alan C., Fortunato, Sheila R., Ritter, Gerd, Igdoura, Suleiman A., Morales, Carlos R., Benoit, Guylaine, Akerman, Beverly R., Leclerc, Daniel, Hanai, Nobuo, Marth, Jamey D., Trasler, Jacquetta M., Gravel, Roy A.
Published in Human molecular genetics (01.01.1996)
Published in Human molecular genetics (01.01.1996)
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Missense mutations in the phenylalanine hydroxylase gene (PAH) can cause accelerated proteolytic turnover of PAH enzyme: A mechanism underlying phenylketonuria
Waters, P. J., Parniak, M. A., Akerman, B. R., Jones, A. O., Scriver, C. R.
Published in Journal of inherited metabolic disease (01.05.1999)
Published in Journal of inherited metabolic disease (01.05.1999)
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Journal Article
Trimethylaminuria Is Caused by Mutations of the FMO3 Gene in a North American Cohort
Akerman, B.R., Lemass, H., Chow, L.M.L., Lambert, D.M., Greenberg, C., Bibeau, C., Mamer, O.A., Treacy, E.P.
Published in Molecular genetics and metabolism (01.09.1999)
Published in Molecular genetics and metabolism (01.09.1999)
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Journal Article
Two novel mutations of the FMO3 gene in a proband with trimethylaminuria
Akerman, B.R., Forrest, S., Chow, L., Youil, R., Knight, M., Treacy, E.P.
Published in Human mutation (1999)
Published in Human mutation (1999)
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Journal Article
Mutations participating in interallelic complementation in propionic acidemia
GRAVEL, R. A, AKERMAN, B. R, LAMHONWAH, A.-M, LOYER, M, LEON-DEL-RIO, A, ITALIANO, I
Published in American journal of human genetics (01.07.1994)
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Published in American journal of human genetics (01.07.1994)
Journal Article
Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease
AKERMAN, B. R, NATOWICZ, M. R, KABACK, M. M, LOYER, M, CAMPEAU, E, GRAVEL, R. A
Published in American journal of human genetics (01.05.1997)
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Published in American journal of human genetics (01.05.1997)
Journal Article
A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening
Triggs-Raine, B L, Mules, E H, Kaback, M M, Lim-Steele, J S, Dowling, C E, Akerman, B R, Natowicz, M R, Grebner, E E, Navon, R, Welch, J P
Published in American journal of human genetics (01.10.1992)
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Published in American journal of human genetics (01.10.1992)
Journal Article
Donor splice site mutation in intron 5 of the HEXA gene in a Turkish infant with Tay-Sachs disease
Ozkara, H A, Akerman, B R, Ciliv, G, Topçu, M, Renda, Y, Gravel, R A
Published in Human mutation (1995)
Published in Human mutation (1995)
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Journal Article
A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease
Zhang, Z X, Wakamatsu, N, Akerman, B R, Mules, E H, Thomas, G H, Gravel, R A
Published in Human molecular genetics (01.04.1995)
Published in Human molecular genetics (01.04.1995)
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Population-specific polymorphisms of the human FMO3 gene: significance for detoxication
Cashman, J R, Akerman, B R, Forrest, S M, Treacy, E P
Published in Drug metabolism and disposition (01.02.2000)
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Published in Drug metabolism and disposition (01.02.2000)
Journal Article
Characterization of Phenylketonuria Missense Substitutions, Distant from the Phenylalanine Hydroxylase Active Site, Illustrates a Paradigm for Mechanism and Potential Modulation of Phenotype
Waters, Paula J., Parniak, Michael A., Akerman, Beverly R., Scriver, Charles R.
Published in Molecular genetics and metabolism (01.02.2000)
Published in Molecular genetics and metabolism (01.02.2000)
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Journal Article
In Vivo Variability of TMA Oxidation Is Partially Mediated by Polymorphisms of the FMO3 Gene
Lambert, Deborah M., Mamer, Orval A., Akerman, Beverley R., Choinière, Luc, Gaudet, Daniel, Hamet, Pavel, Treacy, Eileen P.
Published in Molecular genetics and metabolism (01.07.2001)
Published in Molecular genetics and metabolism (01.07.2001)
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Journal Article
Identification of deletion and triple alpha-globin gene haplotypes in the Montreal beta-thalassemia screening program: implications for genetic medicine
Akerman, B R, Fujiwara, T M, Lancaster, G A, Morgan, K, Scriver, C R
Published in American journal of medical genetics (01.05.1990)
Published in American journal of medical genetics (01.05.1990)
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