Phenylketonuria in adulthood: A collaborative study
Koch, R., Burton, B., Hoganson, G., Peterson, R., Rhead, W., Rouse, B., Scott, R., Wolff, J., Stern, A. M., Guttler, F., Nelson, M., la Cruz, F., Coldwell, J., Erbe, R., Geraghty, M. T., Shear, C., Thomas, J., Azen, C.
Published in Journal of inherited metabolic disease (01.09.2002)
Published in Journal of inherited metabolic disease (01.09.2002)
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Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort
Yoon, G., Baskin, B., Tarnopolsky, M., Boycott, K. M., Geraghty, M. T., Sell, E., Goobie, S., Meschino, W., Banwell, B., Ray, P. N.
Published in Neurogenetics (01.11.2013)
Published in Neurogenetics (01.11.2013)
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PTEN Mutation Spectrum and Genotype-Phenotype Correlations in Bannayan-Riley-Ruvalcaba Syndrome Suggest a Single Entity With Cowden Syndrome
Marsh, Debbie J., Kum, Jennifer B., Lunetta, Kathryn L., Bennett, Michael J., Gorlin, Robert J., Ahmed, S. Faisal, Bodurtha, Joann, Crowe, Carol, Curtis, Mary A., Dasouki, Majed, Dunn, Teresa, Feit, Howard, Geraghty, Michael T., Graham, John M., Hodgson, Shirley V., Hunter, Alasdair, Korf, Bruce R., Manchester, David, Miesfeldt, Susan, Murday, Victoria A., Nathanson, Katherine L., Parisi, Melissa, Pober, Barbara, Romano, Corrado, Tolmie, John L., Trembath, Richard, Winter, Robin M., Zackai, Elaine H., Zori, Roberto T., Weng, Liang-Ping, Dahia, Patricia L. M., Eng, Charis
Published in Human molecular genetics (01.08.1999)
Published in Human molecular genetics (01.08.1999)
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Whole-exome sequencing expands the phenotype of Hunter syndrome
Nikkel, S.M., Huang, L., Lachman, R., Beaulieu, C.L., Schwartzentruber, J., Majewski, J., Geraghty, M.T., Boycott, K.M.
Published in Clinical genetics (01.08.2014)
Published in Clinical genetics (01.08.2014)
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Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue‐ or age‐related variation
White, S. L., Shanske, S., McGill, J. J., Mountain, H., Geraghty, M. T., DiMauro, S., Dahl, H.‐H. M., Thorburn, D. R.
Published in Journal of inherited metabolic disease (01.12.1999)
Published in Journal of inherited metabolic disease (01.12.1999)
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Mosaic deletion 11p13 in a child with dopamine beta‐hydroxylase deficiency—Case report and review of the literature
Erez, A., Li, J., Geraghty, M.T., Ben‐Shachar, S., Cooper, M.L., Mensing, D.E., Vonalt, K.D., Ou, Z., Pursley, A.N., Chinault, A.C., Patel, A., Cheung, S.W., Sahoo, T.
Published in American journal of medical genetics. Part A (01.03.2010)
Published in American journal of medical genetics. Part A (01.03.2010)
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Three cases of intravenous sodium benzoate and sodium phenylacetate toxicity occurring in the treatment of acute hyperammonaemia
Praphanproj, V., Boyadjiev, S. A., Waber, L. J., Brusilow, S. W., Geraghty, M. T.
Published in Journal of inherited metabolic disease (01.03.2000)
Published in Journal of inherited metabolic disease (01.03.2000)
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Multiple Molecular Mechanisms Underlying Subdiagnostic Variants of Marfan Syndrome
Montgomery, Robert A., Geraghty, Michael T., Bull, Evelyn, Gelb, Bruce D., Johnson, Maureen, McIntosh, Iain, Francomano, Clair A., Dietz, Harry C.
Published in American journal of human genetics (01.12.1998)
Published in American journal of human genetics (01.12.1998)
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The relationship of plasma glutamine to ammonium and of glycine to acid–base balance in propionic acidaemia
Al‐Hassnan, Z. N., Boyadjiev, S. A., Praphanphoj, V., Hamosh, A., Braverman, N. E., Thomas, G. H., Geraghty, M. T.
Published in Journal of inherited metabolic disease (01.07.2003)
Published in Journal of inherited metabolic disease (01.07.2003)
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Suppression of Peroxisomal Membrane Protein Defects by Peroxisomal ATP Binding Cassette (ABC) Proteins
Braiterman, Lelita T., Zheng, Siqun, Watkins, Paul A., Geraghty, Michael T., Johnson, Gerald, McGuinness, Martina C., Moser, Ann B., Smith, Kirby D.
Published in Human molecular genetics (01.02.1998)
Published in Human molecular genetics (01.02.1998)
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Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome
Goodman, B. K., Rutberg, J., Lin, W. W., Pulver, A. E., Thomas, G. H., Geraghty, M. T.
Published in Journal of inherited metabolic disease (01.12.2000)
Published in Journal of inherited metabolic disease (01.12.2000)
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B.06 Whole exome sequencing in genetic ataxias associated with cerebellar atrophy: the Canadian experience
Gauquelin, L, Hartley, T, Tarnopolsky, M, Dyment, DA, Brais, B, Geraghty, MT, Tétreault, M, Ahmed, S, Rojas, S, Majewski, J, Bernier, F, Innes, A, Rouleau, G, Suchowersky, O, Boycott, KM, Yoon, G
Published in Canadian journal of neurological sciences (01.06.2019)
Published in Canadian journal of neurological sciences (01.06.2019)
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Cobalamin C defect associated with hemolytic-uremic syndrome
Geraghty, Michael T., Perlman, Elizabeth J., Martin, Laura S., Hayflick, Susan J., Casella, James F., Rosenblatt, David S., Valle, David
Published in The Journal of pediatrics (01.06.1992)
Published in The Journal of pediatrics (01.06.1992)
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Molecular Cytogenetic Evaluation in a Patient with a Translocation (3;21) Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES)
Praphanphoj, Verayuth, Goodman, Barbara K., Thomas, George H., Niel, Kerry M., Toomes, Carmel, Dixon, Michael J., Geraghty, Michael T.
Published in Genomics (San Diego, Calif.) (01.04.2000)
Published in Genomics (San Diego, Calif.) (01.04.2000)
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Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome
Flanagan, N, Boyadjiev, S A, Harper, J, Kyne, L, Earley, M, Watson, R, Jabs, E W, Geraghty, M T
Published in Journal of medical genetics (01.09.1998)
Published in Journal of medical genetics (01.09.1998)
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Molecular cloning of the synovial sarcoma-specific translocation (X;18)(p11.2;q11.2) breakpoint
de Leeuw, B, Balemans, M, Weghuis, D O, Seruca, R, Janz, M, Geraghty, M T, Gilgenkrantz, S, Ropers, H H, Geurts van Kessel, A
Published in Human molecular genetics (01.05.1994)
Published in Human molecular genetics (01.05.1994)
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