Search Results - "Bernier, F"

Validation of an obstetric comorbidity index in an external population by Metcalfe, A, Lix, LM, Johnson, J‐A, Currie, G, Lyon, AW, Bernier, F, Tough, SC

“…Objectives An obstetric comorbidity index has been developed recently with superior performance characteristics relative to general comorbidity measures in an…”
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Geohydromechanical processes in the Excavation Damaged Zone in crystalline rock, rock salt, and indurated and plastic clays—in the context of radioactive waste disposal by Tsang, Chin-Fu, Bernier, F., Davies, C.

“…The creation of an excavation disturbed zone (EdZ) or excavation damaged zone (EDZ) is expected around all man-made openings in geologic formations. Macro- and…”
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Public health policy research: making the case for a political science approach by BERNIER, NICOLE F., CLAVIER, CAROLE

“…The past few years have seen the emergence of claims that the political determinants of health do not get due consideration and a growing demand for better…”
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Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing by Balci, T.B., Hartley, T., Xi, Y., Dyment, D.A., Beaulieu, C.L., Bernier, F.P., Dupuis, L., Horvath, G.A., Mendoza‐Londono, R., Prasad, C., Richer, J., Yang, X.‐R., Armour, C.M., Bareke, E., Fernandez, B.A., McMillan, H.J., Lamont, R.E., Majewski, J., Parboosingh, J.S., Prasad, A.N., Rupar, C.A., Schwartzentruber, J., Smith, A.C., Tétreault, M., Innes, A.M., Boycott, K.M.

“…Background Recent clinical whole exome sequencing (WES) cohorts have identified unanticipated multiple genetic diagnoses in single patients. However, the…”
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Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1‐related ciliopathy spectrum by Gillesse, E., Wade, A., Parboosingh, J. S., Au, P. Y. B., Bernier, F. P., Lamont, R. E., Innes, A. M.

“…Ciliopathies represent a major category of rare multisystem disease. Arriving at a specific diagnosis for a given patient is challenged by the significant…”
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Diagnostic criteria for respiratory chain disorders in adults and children by BERNIER, F. P, BONEH, A, DENNETT, X, CHOW, C. W, CLEARY, M. A, THORBURN, D. R

“…Respiratory chain (RC) disorders are clinically, biochemically, and molecularly heterogeneous. The lack of standardized diagnostic criteria poses difficulties…”
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Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition by Davey, K M, Parboosingh, J S, McLeod, D R, Chan, A, Casey, R, Ferreira, P, Snyder, F F, Bridge, P J, Bernier, F P

“…Background: A novel autosomal recessive condition, dilated cardiomyopathy with ataxia (DCMA) syndrome, has been identified in the Canadian Dariusleut Hutterite…”
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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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Whole‐exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families by Hartley, T., Wagner, J.D., Warman‐Chardon, J., Tétreault, M., Brady, L., Baker, S., Tarnopolsky, M., Bourque, P.R., Parboosingh, J.S., Smith, C., McInnes, B., Innes, A.M., Bernier, F., Curry, C.J., Yoon, G., Horvath, G.A., Bareke, E., Gillespie, M., Majewski, J., Bulman, D.E., Dyment, D.A., Boycott, K.M.

“…The inherited peripheral neuropathies (IPNs) are characterized by marked clinical and genetic heterogeneity and include relatively frequent presentations such…”
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“Ectomycorrhizal exploration type” could be a functional trait explaining the spatial distribution of tree symbiotic fungi as a function of forest humus forms by F, Khalfallah, L, Bon, M, El Mazlouzi, M R, Bakker, N, Fanin, R, Bellanger, F, Bernier, A, De Schrijver, C, Ducatillon, M N, Fotelli, G, Gateble, M J, Gundale, M, Larsson, A, Legout, W L, Mason, A, Nordin, A, Smolander, G, Spyroglou, E I, Vanguelova, K, Verheyen, L, Vesterdal, B, Zeller, L, Augusto, D, Derrien, M, Buée

“…Summary In European forests, most tree species form symbioses with ectomycorrhizal (EM) and arbuscular mycorrhizal (AM) fungi. The EM fungi are classified into…”
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HSP27 Multimerization Mediated by Phosphorylation-sensitive Intermolecular Interactions at the Amino Terminus by Lambert, H, Charette, S J, Bernier, A F, Guimond, A, Landry, J

“…Distinct biochemical activities have been reported for small and large molecular complexes of heat shock protein 27 (HSP27), respectively. Using glycerol…”
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Expansion of the GLE1‐associated arthrogryposis multiplex congenita clinical spectrum by Smith, C., Parboosingh, J.S., Boycott, K.M., Bönnemann, C.G., Mah, J.K., Lamont, R.E., Micheil Innes, A., Bernier, F.P.

“…Mutations in GLE1 cause two recessive subtypes of arthrogryposis multiplex congenita (AMC), a condition characterized by joint contractures at birth, and all…”
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Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care by Sawyer, S.L., Hartley, T., Dyment, D.A., Beaulieu, C.L., Schwartzentruber, J., Smith, A., Bedford, H.M., Bernard, G., Bernier, F.P., Brais, B., Bulman, D.E., Warman Chardon, J., Chitayat, D., Deladoëy, J., Fernandez, B.A., Frosk, P., Geraghty, M.T., Gerull, B., Gibson, W., Gow, R.M., Graham, G.E., Green, J.S., Heon, E., Horvath, G., Innes, A.M., Jabado, N., Kim, R.H., Koenekoop, R.K., Khan, A., Lehmann, O.J., Mendoza-Londono, R., Michaud, J.L., Nikkel, S.M., Penney, L.S., Polychronakos, C., Richer, J., Rouleau, G.A., Samuels, M.E., Siu, V.M., Suchowersky, O., Tarnopolsky, M.A., Yoon, G., Zahir, F.R., Majewski, J., Boycott, K.M.

“…An accurate diagnosis is an integral component of patient care for children with rare genetic disease. Recent advances in sequencing, in particular whole‐exome…”
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Mutations in the novel protocadherin PCDH15 cause usher syndrome type 1F by ALAGRAMAM, Kumar N, HUIJUN YUAN, SCHWARTZ, Stuart, LEE, Charles, MORTON, Cynthia C, MULLINS, Robert F, RAMESH, Arabandi, VAN CAMP, Guy, HAGEMEN, Gregory S, WOYCHIK, Richard P, SMITH, Richard J. H, KUEHN, Markus H, MURCIA, Crystal L, WAYNE, Sigrid, SRIKUMARI SRISAILPATHY, C. R, LOWRY, R. Brian, KNAUS, Russell, VAN LAER, Lut, BERNIER, F. P

“…We have determined the molecular basis for Usher syndrome type 1F (USH1F) in two families segregating for this type of syndromic deafness. By fluorescence in…”
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Germins and germin-like proteins: Plant do-all proteins. But what do they do exactly? by Bernier, François, Berna, Anne

“…Germins and germin-like proteins (GLPs) constitute a large and highly diverse family of ubiquitous plant proteins. The name germin was given because the first…”
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Evaluation of a method estimating real-time individual lysine requirements in two lines of growing–finishing pigs by Cloutier, L., Pomar, C., Létourneau Montminy, M. P., Bernier, J. F., Pomar, J.

“…The implementation of precision feeding in growing–finishing facilities requires accurate estimates of the animals’ nutrient requirements. The objectives of…”
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Bacterial contamination in platelet concentrates by Pietersz, R. N. I., Reesink, H. W., Panzer, S., Oknaian, S., Kuperman, S., Gabriel, C., Rapaille, A., Lambermont, M., Deneys, V., Sondag, D., Ramírez-Arcos, S., Goldman, M., Delage, G., Bernier, F., Germain, M., Vuk, T., Georgsen, J., Morel, P., Naegelen, C., Bardiaux, L., Cazenave, J.-P., Dreier, J., Vollmer, T., Knabbe, C., Seifried, E., Hourfar, K., Lin, C. K., Spreafico, M., Raffaele, L., Berzuini, A., Prati, D., Satake, M., de Korte, D., van der Meer, P. F., Kerkhoffs, J. L., Blanco, L., Kjeldsen-Kragh, J., Svard-Nilsson, A.-M., McDonald, C. P., Symonds, I., Moule, R., Brailsford, S., Yomtovian, R., Jacobs, M. R.

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Detection of unexpected multi-part objects from segmented contour maps by Bergevin, R., Bernier, J.-F.

“…A novel method is proposed to detect multi-part objects of unknown specific shape and appearance in natural images. It consists in first extracting a strictly…”
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Modeling the fate of dietary phosphorus in the digestive tract of growing pigs by LETOURNEAU-MONTMINY, M. P, NARCY, A, LESCOAT, P, MAGNIN, M, BERNIER, J. F, SAUVANT, D, JONDREVILLE, C, POMAR, C

“…Environmental effects of excess P from manure and the soaring price of phosphates are major issues in pig production. To optimize P utilization, it is crucial…”
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Differences in splanchnic metabolism between late gestation and early lactation dairy cows by Doepel, L, Lobley, G E, Bernier, J F, Dubreuil, P, Lapierre, H

“…In the transition from the pre- to postcalving state, the demands on the cow increase from support of gestation to high rates of milk production. This extra…”
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