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Your search keyword '"MacKenzie, Marius A."' showing total 4 results
Start Over Author "MacKenzie, Marius A." Journal new england journal of medicine
4 results on '"MacKenzie, Marius A."'

1. A Dominant-NegativeGFI1BMutation in the Gray Platelet Syndrome

Author

Monteferrario, Davide, primary, Bolar, Nikhita A., additional, Marneth, Anna E., additional, Hebeda, Konnie M., additional, Bergevoet, Saskia M., additional, Veenstra, Hans, additional, Laros-van Gorkom, Britta A.P., additional, MacKenzie, Marius A., additional, Khandanpour, Cyrus, additional, Botezatu, Lacramiora, additional, Fransen, Erik, additional, Van Camp, Guy, additional, Duijnhouwer, Anthonie L., additional, Salemink, Simone, additional, Willemsen, Brigith, additional, Huls, Gerwin, additional, Preijers, Frank, additional, Van Heerde, Waander, additional, Jansen, Joop H., additional, Kempers, Marlies J.E., additional, Loeys, Bart L., additional, Van Laer, Lut, additional, and Van der Reijden, Bert A., additional

Published
2014
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2. Accidental Deep Hypothermia.

Author

MacKenzie, Marius A.

Subjects
*LETTERS to the editor, *HYPOTHERMIA
Abstract

A letter to the editor is presented in response to the article "Outcome of survivors of accidental deep hypothermia and circulatory arrest treated with extracorporeal blood warming" by B. H. Walpoth, B. N. Walpoth-Aslan, H. P. Mattle and others which was published in the November 20, 1997 issue.

Published
1998
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3. The Neurologic Basis of Fever.

Author

MacKenzie, Marius A., Pieters, Gerlach F.F.M., and Hermus, Ad R.M.M.

Subjects
*LETTERS to the editor, *FEVER
Abstract

A letter to the editor is presented in response to the article "The neurologic basis of fever," by Clifford B. Saper and Christopher D. Breder published in the June 30, 1994 issue.

Published
1994
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4. A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome.

Author

Monteferrario, Davide, Bolar, Nikhita A., Marneth, Anna E., Hebeda, Konnie M., Bergevoet, Saskia M., Veenstra, Hans, Laros-van Gorkom, Britta A. P., MacKenzie, Marius A., Khandanpour, Cyrus, Botezatu, Lacramiora, Fransen, Erik, Van Camp, Guy, Duijnhouwer, Anthonie L., Salemink, Simone, Willemsen, Brigith, Huls, Gerwin, Preijers, Frank, Van Heerde, Waander, Jansen, Joop H., and Kempers, Marlies J. E.

Subjects
*TRANSCRIPTION factors, *NONSENSE mutation, *GROWTH factors, *GRAY platelet syndrome, *GENETIC mutation
Abstract

The article discusses the identification of a nonsense mutation in the transcription-factor gene, growth factor independent 1B (GFI1B) in a family of autosomal dominant gray platelet syndrome. Linkage and sequence analyses, molecular and functional characterization of mutated GFI1B and cellular analyses were conducted. It determined that GFI1B is a causative gene in autosomal dominant gray platelet syndrome.

Published
2014
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