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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

Autor: Eden V. Haverfield, Edward D. Esplin, Sienna J. Aguilar, Kathryn E. Hatchell, Kelly E. Ormond, Andrea Hanson-Kahn, Paldeep S. Atwal, Sarah Macklin-Mantia, Stephanie Hines, Caron W.-M. Sak, Steven Tucker, Steven B. Bleyl, Peter J. Hulick, Ora K. Gordon, Lea Velsher, Jessica Y. J. Gu, Scott M. Weissman, Teresa Kruisselbrink, Christopher Abel, Michele Kettles, Anne Slavotinek, Bryce A. Mendelsohn, Robert C. Green, Swaroop Aradhya, Robert L. Nussbaum

Publikováno v: BMC Medicine, Vol 19, Iss 1, Pp 1-10 (2021)

Abstract Background The use of proactive genetic screening for disease prevention and early detection is not yet widespread. Professional practice guidelines from the American College of Medical Genetics and Genomics (ACMG) have encouraged reporting

Externí odkaz: https://doaj.org/article/7ae57346a2ed465d9bdbdfb8577900b2

Preventive drugs for Huntington’s disease: A choice-based conjoint survey of patient preferences

Autor: Marcus C. Parrish, Andrea Hanson-Kahn, V. Srinivasan, Kevin V. Grimes

Publikováno v: Journal of Clinical and Translational Science, Vol 6 (2022)

Abstract Introduction: This research examined the perspective of the Huntington’s disease (HD) community regarding the use of predictive biomarkers as endpoints for regulatory approval of therapeutics to prevent or delay the onset of clinical HD i

Externí odkaz: https://doaj.org/article/dccf8670eebc4c48b2695b9b5df5f695

Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study

Autor: Eden V. Haverfield, Edward D. Esplin, Sienna J. Aguilar, Kathryn E. Hatchell, Kelly E. Ormond, Andrea Hanson-Kahn, Paldeep S. Atwal, Sarah Macklin-Mantia, Stephanie Hines, Caron W.-M. Sak, Steven Tucker, Steven B. Bleyl, Peter J. Hulick, Ora K. Gordon, Lea Velsher, Jessica Y. J. Gu, Scott M. Weissman, Teresa Kruisselbrink, Christopher Abel, Michele Kettles, Anne Slavotinek, Bryce A. Mendelsohn, Robert C. Green, Swaroop Aradhya, Robert L. Nussbaum

Publikováno v: BMC Medicine, Vol 19, Iss 1, Pp 1-1 (2021)

Externí odkaz: https://doaj.org/article/0c0c1663790f40ce8a666b2757242ff1

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants inLARS1

Autor: Nicola Dikow, Alyssa Bianzano, Robert Kopajtich, James R. Lupski, Gajja S. Salomons, Jennifer E. Posey, Saskia Biskup, Jill A. Rosenfeld, Bruce H. R. Wolffenbuttel, Dominic Lenz, Saskia B. Wortmann, Denise Horn, Urania Kotzaeridou, Joanne Hughes, Maya Huijberts, Simone Kathemann, Tobias B. Haack, Stefan Kölker, Elke Lainka, Ralf A. Husain, Fleur Vansenne, Sébastien Küry, Andrea Hanson-Kahn, Bertrand Isidor, Matias Wagner, Ellen Crushell, Inga Harting, Jonathan A. Bernstein, Lucia Laugwitz, Dominique Caldari, Desirée E.C. Smith, Marisa I. Mendes, Christian Staufner, Julian Schröter, Claire Reynolds, Heiko Brennenstuhl, Claudia Weiß, Bader Alhaddad, Holger Prokisch, Georg F. Hoffmann

Publikováno v: Genet. Med. 22, 1863-1873 (2020)
Genetics in Medicine, 22(11), 1863-1873. Nature Publishing Group
Lenz, D, Smith, D E C, Crushell, E, Husain, R A, Salomons, G S, Alhaddad, B, Bernstein, J A, Bianzano, A, Biskup, S, Brennenstuhl, H, Caldari, D, Dikow, N, Haack, T B, Hanson-Kahn, A, Harting, I, Horn, D, Hughes, J, Huijberts, M, Isidor, B, Kathemann, S, Kopajtich, R, Kotzaeridou, U, Küry, S, Lainka, E, Laugwitz, L, Lupski, J R, Posey, J E, Reynolds, C, Rosenfeld, J A, Schröter, J, Vansenne, F, Wagner, M, Weiß, C, Wolffenbuttel, B H R, Wortmann, S B, Kölker, S, Hoffmann, G F, Prokisch, H, Mendes, M I & Staufner, C 2020, ' Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 ', Genetics in Medicine, vol. 22, no. 11, pp. 1863-1873 . https://doi.org/10.1038/s41436-020-0904-4
Genetics in medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins
Genetics in Medicine, 22(11), 1863-1873. Lippincott Williams and Wilkins

Purpose: Biallelic variants in LARS1, coding for the cytosolic leucyl-tRNA synthetase, cause infantile liver failure syndrome 1 (ILFS1). Since its description in 2012, there has been no systematic analysis of the clinical spectrum and genetic finding

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79a283fec073d0bfac9ee14639992eed
https://research.rug.nl/en/publications/03f5a315-5c5a-4d2f-8e51-7646d711e249