Search Results - "WADDELL, L. B"

Importance and challenge of making an early diagnosis in LMNA-related muscular dystrophy by MENEZES, M. P, WADDELL, L. B, HARBORD, M, NORTH, K. N, CLARKE, N. F, EVESSON, F. J, COOPER, S, WEBSTER, R, JONES, K, MOWAT, D, KIERNAN, M. C, JOHNSTON, H. M, CORBETT, A

“…To identify the most useful clinical and histologic markers that facilitate early diagnosis in LMNA-related muscular dystrophy and to assess the usefulness of…”
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Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5 by Penttilä, S, Palmio, J, Suominen, T, Raheem, O, Evilä, A, Muelas Gomez, N, Tasca, G, Waddell, L B, Clarke, N F, Barboi, A, Hackman, P, Udd, B

“…Description of 8 new ANO5 mutations and significant expansion of the clinical phenotype spectrum associated with previously known and unknown mutations to…”
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RE: “RELATION OF CIGARETTE SMOKING TO NON-HODGKIN'S LYMPHOMA AMONG MIDDLE-AGED MEN” by Waddell, Barry L., Blair, Aaron, Zahm, Shelia Hoar

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Agricultural Use of Organophosphate Pesticides and the Risk of Non-Hodgkin's Lymphoma among Male Farmers (United States) by Waddell, Barry L., Zahm, Shelia Hoar, Baris, Dalsu, Weisenburger, Dennis D., Holmes, Frederick, Burmeister, Leon F., Cantor, Kenneth P., Blair, Aaron

“…Objective: Data from three population-based case-control studies conducted in Kansas, Nebraska, Iowa, and Minnesota were pooled to evaluate the relationship…”
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MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement by Donkervoort, S., Sabouny, R., Yun, P., Gauquelin, L., Chao, K. R., Hu, Y., Al Khatib, I., Töpf, A., Mohassel, P., Cummings, B. B., Kaur, R., Saade, D., Moore, S. A., Waddell, L. B., Farrar, M. A., Goodrich, J. K., Uapinyoying, P., Chan, S.H. S., Javed, A., Leach, M. E., Karachunski, P., Dalton, J., Medne, L., Harper, A., Thompson, C., Thiffault, I., Specht, S., Lamont, R. E., Saunders, C., Racher, H., Bernier, F. P., Mowat, D., Witting, N., Vissing, J., Hanson, R., Coffman, K. A., Hainlen, M., Parboosingh, J. S., Carnevale, A., Yoon, G., Schnur, R. E., Boycott, K. M., Mah, J. K., Straub, V., Foley, A. Reghan, Innes, A. M., Bönnemann, C. G., Shutt, T. E.

“…MSTO1 encodes a cytosolic mitochondrial fusion protein, misato homolog 1 or MSTO1. While the full genotype–phenotype spectrum remains to be explored,…”
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Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by AN05 by PENTTILÄ, S, PALMIO, J, HACKMAN, P, UDD, B, SUOMINEN, T, RAHEEM, O, EVILÄ, A, MUELAS GOMEZ, N, TASCA, G, WADDELL, L. B, CLARKE, N. F, BARBOI, A

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G.P.41 The identification of LGMD2G (TCAP) in Australia by Waddell, L.B, Lek, M, Bahlo, M, Bromhead, C, Jones, K, North, K.N, Clarke, N.F

“…Abstract The limb-girdle MDs (LGMDs) are characterised by predominant weakness and wasting of pelvic and shoulder girdle muscles with onset after two years of…”
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G.P.46 Screening for deletion and duplication mutations in genes implicated in LGMD by Roxburgh, R.H, Marquis-Nicholson, R, Hutchinson, D.O, Waddell, L.B, Clarke, N.F, North, K.N, Love, D.R

“…Abstract LGMD is predominantly inherited in an autosomal recessive manner; however autosomal dominant and X-linked subtypes have also been described. To date,…”
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Mutations in Cardiac T-Box Factor Gene TBX20 Are Associated with Diverse Cardiac Pathologies, Including Defects of Septation and Valvulogenesis and Cardiomyopathy by Kirk, Edwin P., Sunde, Margaret, Costa, Mauro W., Rankin, Scott A., Wolstein, Orit, Castro, M. Leticia, Butler, Tanya L., Hyun, Changbaig, Guo, Guanglan, Otway, Robyn, Mackay, Joel P., Waddell, Leigh B., Cole, Andrew D., Hayward, Christopher, Keogh, Anne, Macdonald, Peter, Griffiths, Lyn, Fatkin, Diane, Sholler, Gary F., Zorn, Aaron M., Feneley, Michael P., Winlaw, David S., Harvey, Richard P.

“…The T-box family transcription factor gene TBX20 acts in a conserved regulatory network, guiding heart formation and patterning in diverse species. Mouse Tbx20…”
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Increased effectiveness of targeted skin cancer screening in the Veterans Affairs population of Northern California by Swetter, Susan M, Waddell, Barry L, Vazquez, Martin D, Khosravi, Vista S

“…Skin cancer screening in populations at increased risk may be more useful than mass screening. We assessed the effectiveness of screening a targeted population…”
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