Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Loren Mackay-Loder"'
Autor:
Tamar Harel, Loren Mackay-Loder, Ian Lee, Zeynep Coban-Akdemir, Deborah Terespolsky, Jaya Punetha, Richard A. Gibbs, Jennifer E. Posey, James R. Lupski, Shalini N. Jhangiani
Publikováno v:
Molecular Genetics and Metabolism. 125:302-304
Charcot-Marie-Tooth (CMT) disease type 1 is an inherited peripheral neuropathy characterized by demyelination and reduced nerve conduction velocities. We present a multi-generational family with peripheral neuropathy in whom clinical CMT panel testin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecd8cc1faff7212d7886d400048624a9
https://doi.org/10.1016/j.ymgme.2018.08.005
https://doi.org/10.1016/j.ymgme.2018.08.005
Autor:
Michael E. Talkowski, Blake C. Ballif, Roger A. Schultz, Patricia I. Bader, Susan Sell, Zheng Fan, James F. Gusella, Debra J Keelean-Fuller, Suneeta Madan-Khetarpal, Loren Mackay-Loder, Deborah Terespolsky, Urvashi Surti, Jill Pouncey, Santhosh Girirajan, Marilyn C. Jones, Bénédicte Héron‐Longe, Ian Blumenthal, Kenneth N. Rosenbaum, Maria Descartes, Jill A. Rosenfeld, Cynthia C. Morton, Evan E. Eichler, Gwen M. Glew, Alain Verloes, Amy Shealy, Sandrine Passemard, Brigitte Benzacken, Cathy A. Stevens, Eva Pipiras, Nicholas J. Neill, Roger L. Ladda, Rocio Moran, Lisa G. Shaffer, John B. Moeschler, Allen N. Lamb, Judith A. Martin, Stephanie E. Vallee, Kent E. Opheim, Juliann Mcconnell, Bertrand Isidor, Andrée Delahaye, Cédric Le Caignec, Shawnia Ryan
Publikováno v:
Human Mutation. 33:728-740
SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and the development of the nervous system. Despite its important developmental roles, SOX5 disruption has yet to be associated with human disease. We report one individu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04d6ce34aa6fb60ead0a602f177b7a93
https://doi.org/10.1002/humu.22037
https://doi.org/10.1002/humu.22037