Novel GAA sequence variant c.1211 A>G reduces enzyme activity but not protein expression in infantile and adult onset Pompe disease

Authors: Nilsson, M. I., Kroos, M. A., Reuser, A. J., Hatcher, E., Akhtar, M., McCready, M. E., Tarnopolsky, M. A.

Source: GENE -AMSTERDAM-. 537(1):41-45

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN346490274&indx=1&recIds=ETOCRN346490274

Apparent transmission distortion of a pericentric chromosome one inversion in a large multi-generation pedigree

Authors: Honeywell, C., Argiropoulos, B., Douglas, S., Blumenthal, A. L., Allanson, J., McGowan-Jordan, J., McCready, M. E.

Source: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. 158(6):1262-1268

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN312518841&indx=1&recIds=ETOCRN312518841

Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II

Authors: McCready, M. E., Carson, N. L., Chakraborty, P., Clarke, J. T., Callahan, J. W., Skomorowski, M. A., Chan, A. K., Bamforth, F., Casey, R., Rupar, C. A.

Source: MOLECULAR GENETICS AND METABOLISM. 92(4):325-335

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The PAT Answer Private annuity trusts can be an alternative - or complement - to 1031 exchanges

Authors: McCready, M. E., Cole, J., Gorak, M.

Source: COMMERCIAL INVESTMENT REAL ESTATE. 25(6):36-39

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN198201283&indx=1&recIds=ETOCRN198201283

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved

Authors: McCready, M. E., Sweeney, E., Fryer, A. E., Donnai, D., Baig, A., Racacho, L., Warman, M. L., Hunter, A. G., Bulman, D. E.

Source: HUMAN GENETICS -BERLIN-. 111(4/5):368-375

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A century later Farabee has his mutation

Authors: McCready, M. E., Grimsey, A., Styer, T., Nikkel, S. M., Bulman, D. E.

Source: HUMAN GENETICS -BERLIN-. 117(2-3):285-287

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN170309613&indx=1&recIds=ETOCRN170309613

Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus

Authors: Kirkpatrick, T. J., Au, K. S., Mastrobattista, J. M., McCready, M. E., Bulman, D. E., Northrup, H.

Source: JOURNAL OF MEDICAL GENETICS. 40(1):42-44

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN124986023&indx=1&recIds=ETOCRN124986023

A novel locus for brachydactyly type A1 on chromosome 5p 13.3-p 13.2

Authors: Armour, C. M., McCready, M. E., Baig, A., Hunter, A. G. W., Bulman, D. E.

Source: JOURNAL OF MEDICAL GENETICS. 39(3):186-188

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN110300529&indx=1&recIds=ETOCRN110300529

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A century later Farabee has his mutation

Authors: McCready, M. E., Grimsey, A., Styer, T., Nikkel, S. M., Bulman, D. E.

Source: HUMAN GENETICS -BERLIN-. 121(1):153-153

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN202854677&indx=1&recIds=ETOCRN202854677

A novel locus for brachydactyly type A1 on chromosome 5p13.3-p13.2.

Authors: Armour, C. M., McCready, M. E., Baig, A., Hunter, A. G. W., Bulman, D. E.

Source: Journal of Medical Genetics; Mar2002, Vol. 39 Issue 3, p186-189, 4p, 1 Diagram, 1 Chart

Subject Terms: LETTERS to the editor, GENETIC disorders