Search Results - "Racher, H"

DNA hypermethylation/boundary control loss identified in retinoblastomas associated with genetic and epigenetic inactivation of the RB1 gene promoter by Raizis, AM, Racher, HM, Foucal, A, Dimaras, H, Gallie, BL, George, PM

“…DNA hypermethylation events occur frequently in human cancers, but less is known of the mechanisms leading to their initiation. Retinoblastoma, an intraocular…”
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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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Structural analysis of interior layered deposits in Northern Coprates Chasma, Mars by Fueten, F., Racher, H., Stesky, R., MacKinnon, P., Hauber, E., McGuire, P.C., Zegers, T., Gwinner, K.

“…Interior layered deposits within an embayment on the northern wall of Coprates Chasma in the Valles Marineris, Mars, are studied using HRSC, CTX, HiRISE and…”
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Specifications of the ACMG/AMP Variant Curation Guidelines for Hereditary Hemorrhagic Telangiectasia Genes—ENG and ACVRL1 by DeMille, Desiree, McDonald, Jamie, Bernabeu, Carmelo, Racher, Hilary, Olivieri, Carla, Cantarini, Claudia, Sbalchiero, Anna, Thompson, Bryony A., Jovine, Luca, Shovlin, Claire L., Dupuis-Girod, Sophie, Lesca, Gaetan, Tusseau, Maud, Ganguly, Arupa, Kasthuri, Raj S., Jessen, Jaime, Massink, Maarten P. G., Ichikawa, Shoji, Bayrak-Toydemir, Pinar

“…The 2015 ACMG/AMP standards and guidelines for interpretation of sequence variants are widely used by laboratories, including for variant curation of the…”
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ClinGen HHT Variant Curation Expert Panel's modified variant interpretation and classification guidelines by Demille, D, Sbalchiero, A, Cantarini, C, Thompson, B, McDonald, J, Bernabeu, C, Dupuis-Girod, S, Ganguly, A, Giraud, S, Ichikawa, S, Jessen, J, Jovine, L, Kasthuri, R, Olivieri, C, van Amstel, JKP, Racher, H, Shovlin, C, Bayrak-Toydemir, P

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ClinGen HHT Variant Curation Expert Panel's Modified Variant Interpretation and Classification Guidelines by DeMille, D, McDonald, J, Bernabeu, C, Dupuis-Girod, S, Ganguly, A, Giraud, S, Ichikawa, S, Jessen, J, Jovine, L, Kasthuri, RS, Olivieri, C, van Amstel, HKP, Racher, H, Shovlin, CL, Bayrak-Toydemir, P

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