Search Results - "Thiffault, I"

Diversity of ARSACS mutations in French-Canadians by Thiffault, I, Dicaire, M J, Tetreault, M, Huang, K N, Demers-Lamarche, J, Bernard, G, Duquette, A, Larivière, R, Gehring, K, Montpetit, A, McPherson, P S, Richter, A, Montermini, L, Mercier, J, Mitchell, G A, Dupré, N, Prévost, C, Bouchard, J P, Mathieu, J, Brais, B

“…The growing number of spastic ataxia of Charlevoix-Saguenay (SACS) gene mutations reported worldwide has broadened the clinical phenotype of autosomal…”
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Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings by Caylor, R. C., Grote, L., Thiffault, I., Farrow, E. G., Willig, L., Soden, S., Amudhavalli, S. M., Nopper, A. J., Horii, K. A., Fleming, E., Jenkins, J., Welsh, H., Ilyas, M., Engleman, K., Abdelmoity, A., Saunders, C. J.

“…Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder characterized by lesions and benign tumors in multiple organ systems…”
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Correction to: Incidental diagnosis of tuberous sclerosis complex by exome sequencing in three families with subclinical findings by Caylor, R. C., Grote, L., Thiffault, I., Farrow, E. G., Willig, L., Soden, S., Amudhavalli, S. M., Nopper, A. J., Horii, K. A., Fleming, E., Jenkins, J., Welsh, H., Ilyas, M., Engleman, K., Abdelmoity, A., Saunders, C. J.

“…The published online version contain mistake in the author list. Instead of "A.M.Ilyas" it should have been "M.Ilyas "…”
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A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13–p12 by Jarry, J., Rioux, M. F., Bolduc, V., Robitaille, Y., Khoury, V., Thiffault, I., Tétreault, M., Loisel, L., Bouchard, J. P., Brais, B.

“…Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of pathologies. We have identified a cohort of 14 French–Canadian patients from eight…”
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A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34 by THIFLAULT, I, RIOUX, M. F, BOUCHARD, J. P, LESAGE, J, BRAIS, B, TETREAULT, M, JARRY, J, LOISELLE, L, POIRIER, J, GROS-LOUIS, F, MATHIEU, J, VANASSE, M, ROULEAU, G. A

“…Recessive ataxias are a heterogeneous group of diseases. We identified a group of 23 French-Canadian cases belonging to 17 families affected by an autosomal…”
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Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster by Tétreault, M, Srour, M, Allyson, J, Thiffault, I, Loisel, L, Robitaille, Y, Bouchard, J P, Brais, B

“…We have recruited a group of four living and reviewed the records of six deceased distantly related French-Canadians of Acadian descent affected by a…”
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A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians by ROSSIGNOL, E, MATHIEU, J, THIFFAULT, I, TETREAULT, M, DICAIRE, M.-J, CHRESTIAN, N, DUPRE, N, PUYMIRAT, J, BRAIS, B

“…Myotonia is observed in classic congenital myotonia caused by CLCN1 mutations and in sodium-channel myotonia (SCM) due to SCN4A mutations. We assessed 66…”
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A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21 by Tétreault, M., Duquette, A., Thiffault, I., Bherer, C., Jarry, J., Loisel, L., Banwell, B., D'Anjou, G., Mathieu, J., Robitaille, Y., Vanasse, M., Brais, B.

“…Congenital muscular dystrophies (CMDS) are a heterogeneous group of disorders. A growing number of CMDS have been found to be associated with joint…”
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The RNASEL 471delAAAG allele and prostate cancer in Ashkenazi Jewish men by Kotar, K, Hamel, N, Thiffault, I, Foulkes, W D

“…The correlation coefficient (r) was -0.106 (r2 = 0.01, p=0.32). [...]we have some evidence that our sample is, perhaps not surprisingly, slightly biased…”
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The HNPCC associated MSH21906G→C founder mutation probably originated between 1440 CE and 1715 CE in the Ashkenazi Jewish population by Sun, S, Greenwood, C M T, Thiffault, I, Hamel, N, Chong, G, Foulkes, W D

“…The MSH2*1906G→C mutation was recently shown to be a rare yet highly penetrant mutation leading to colorectal cancer. The mutation was only found among…”
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Germline truncating mutations in both MSH2 and BRCA2 in a single kindred by THIFLAULT, I, HAMEL, N, GOLDGAR, D, GRAHAM, T, NAROD, S, WATTERS, A. K, MACNAMARA, E, DU SART, D, CHONG, G, FOULKES, W. D, PAL, T, MCVETY, S, MARCUS, V. A, FARBER, D, COWIE, S, DESCHENES, J, MESCHINO, W, ODEFREY, F

“…There has been interest in the literature in the possible existence of a gene that predisposes to both breast cancer (BC) and colorectal cancer (CRC). We…”
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Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome by Thiffault, I., Schwartz, C.E., Der Kaloustian, V., Foulkes, W.D.

“…Proteus syndrome is a complex hamartomatous disorder characterized by asymmetrical gigantism, epidermal nevi, vascular malformations, hamartomas, lipomas, and…”
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The Challenge of Analyzing the Results of Next-Generation Sequencing in Children by Thiffault, Isabelle, Lantos, John

“…In recent years, next-generation sequencing technologies have revolutionized approaches to genetic studies. Whole-exome or whole-genome sequencing allows…”
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Hereditary ataxias, spastic parapareses and neuropathies in Eastern Canada by Dupré, N, Chrestian, N, Thiffault, I, Brais, B, Rouleau, G A, Bouchard, J-P

“…It has been demonstrated, for many inherited diseases, that historical events have shaped the various regional gene pools of Eastern Canada. In so doing, it…”
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Putative common origin of two MLH1 mutations in Italian-Quebec hereditary non-polyposis colorectal cancer families by Thiffault, I, Foulkes, WD, Marcus, VA, Farber, D, Kasprzak, L, MacNamara, E, Wong, N, Hutter, P, Radice, P, Bertario, L, Chong, G

“…Hereditary non‐polyposis colorectal cancer (HNPCC) is one of the most common inherited cancer syndromes, accounting for 3–5% of all cases of colorectal cancer…”
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An MLH1 haplotype is over-represented on chromosomes carrying an HNPCC predisposing mutation in MLH1 by Hutter, P, Wijnen, J, Rey-Berthod, C, Thiffault, I, Verkuijlen, P, Farber, D, Hamel, N, Bapat, B, Thibodeau, S N, Burn, J, Wu, J, MacNamara, E, Heinimann, K, Chong, G, Foulkes, W D

“…Background: The mismatch repair gene, MLH1, appears to occur as two main haplotypes at least in white populations. These are referred to as A and G types with…”
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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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Ataxies, paraparésies spastiques et neuropathies héréditaires fréquentes dans l’Est du Canada by Dupré, N., Chrestian, N., Thiffault, I., Brais, B., Rouleau, G.A., Bouchard, J.-P.

“…Les dernières décennies ont vu l’élaboration de meilleurs outils cliniques et moléculaires qui ont révolutionné la classification de nombreuses maladies. La…”
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MAGEL2‐related disorders: A study and case series by Patak, Jameson, Gilfert, James, Byler, Melissa, Neerukonda, Vamsee, Thiffault, Isabelle, Cross, Laura, Amudhavalli, Shivarajan, Pacio‐Miguez, Marta, Palomares‐Bralo, Maria, Garcia‐Minaur, Sixto, Santos‐Simarro, Fernando, Powis, Zoe, Alcaraz, Wendy, Tang, Sha, Jurgens, Julie, Barry, Brenda, England, Eleina, Engle, Elizabeth, Hess, Jonathon, Lebel, Robert R.

“…Pathogenic MAGEL2 variants result in the phenotypes of Chitayat‐Hall syndrome (CHS), Schaaf‐Yang syndrome (SYS) and Prader‐Willi syndrome (PWS). We present…”
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Mutation-specific pathophysiological mechanisms in a new SATB1-associated neurodevelopmental disorder by den Hoed, J., de Boer, E., Voisin, N., Guex, N., Blok, L. Snijders, Chrast, J., Manwaring, L., Willing, M., Waheeb, A., Osmond, M., Mcwalter, K., Vitobello, A., Demurger, F., Lavillaureix, A., Odent, S., Mazel, B., Faivre, L., Thiffault, I., Schwager, C., Amudhavalli, S. M., Rosenfeld, J. A., Radtke, K., Preiksaitiene, E., Ranza, E., Depienne, C., Kuechler, A., Mohammed, S., Abedi, Y. Hamzavi, Bonagura, V. R., Zuccarelli, B., Horist, B., Krishnamurthy, V., Kattentidt-Mouravieva, A. A., Granger, L., Petersen, A., Jones, K. L., Sinnema, M., Stegmann, A. P. A., Newbury-Ecob, R., Kini, U., Newbury, D. F., Gilissen, C., Brunner, H., Kleefstra, T., Reymond, A., Vissers, L. E. L. M., Fisher, S. E.

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