Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.

Autor: Hogue, J, Lee, C, Jelin, A, Strecker, MN, Cox, VA, Slavotinek, AM

Publikováno v: Clinical Genetics; Oct2013, Vol. 84 Issue 4, p392-393, 2p, 1 Black and White Photograph, 1 Chart

ADDENDUM: Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.

Autor: Goldman JS; Department of Nephrology, Sergievsky Center and Taub Institute for Research on Alzheimer Disease and the Aging Brain, Columbia University, New York City, NY, USA. jg2673@columbia.edu.; Sergievsky Center and Taub Institute for Research on Alzheimer Disease and the Aging Brain, Columbia University, New York City, NY, USA. jg2673@columbia.edu., Hahn SE; John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA., Catania JW; Department of Nephrology, Sergievsky Center and Taub Institute for Research on Alzheimer Disease and the Aging Brain, Columbia University, New York City, NY, USA.; Sergievsky Center and Taub Institute for Research on Alzheimer Disease and the Aging Brain, Columbia University, New York City, NY, USA., LaRusse-Eckert S; Sergievsky Center and Taub Institute for Research on Alzheimer Disease and the Aging Brain, Columbia University, New York City, NY, USA., Butson MB; Department of Bioethics, Case Western Reserve University, Cleveland, OH, USA., Rumbaugh M; Department of Neurology, University of Washington, Seattle Institute of Biomedical and Clinical Research, Seattle, WA, USA., Strecker MN; CombiMATRIX Diagnostics, Irvine, CA, USA.; Division of Medical Genetics, University of California San Francisco, San Francisco, CA, USA., Roberts JS; Department of Health Behavior & Health Education, University of Michigan School of Public Health, Ann Arbor, MI, USA., Burke W; Department of Bioethics and Humanities, University of Washington, Seattle, WA, USA., Mayeux R; Department of Nephrology, Sergievsky Center and Taub Institute for Research on Alzheimer Disease and the Aging Brain, Columbia University, New York City, NY, USA.; Sergievsky Center and Taub Institute for Research on Alzheimer Disease and the Aging Brain, Columbia University, New York City, NY, USA., Bird T; Division of Neurogenetics, University of Washington, Seattle, WA, USA.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2019 Oct; Vol. 21 (10), pp. 2404.

Comprehensive genetic analysis of pregnancy loss by chromosomal microarrays: outcomes, benefits, and challenges.

Autor: Sahoo T; CombiMatrix Diagnostics, Irvine, California, USA., Dzidic N; CombiMatrix Diagnostics, Irvine, California, USA., Strecker MN; CombiMatrix Diagnostics, Irvine, California, USA., Commander S; CombiMatrix Diagnostics, Irvine, California, USA., Travis MK; CombiMatrix Diagnostics, Irvine, California, USA., Doherty C; CombiMatrix Diagnostics, Irvine, California, USA., Tyson RW; Department of Pathology, SCL Health System, Denver, Colorado, USA., Mendoza AE; Department of Pathology, Sharp Memorial Hospital, San Diego, California, USA., Stephenson M; Department of Obstetrics and Gynecology, University of Illinois Hospital, Chicago, Illinois, USA., Dise CA; Morristown Medical Center, Morristown, New Jersey, USA., Benito CW; Morristown Medical Center, Morristown, New Jersey, USA., Ziadie MS; Memorial Regional Hospital, Hollywood, Florida, USA., Hovanes K; CombiMatrix Diagnostics, Irvine, California, USA.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2017 Jan; Vol. 19 (1), pp. 83-89. Date of Electronic Publication: 2016 Jun 23.

Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.

Autor: Langfelder-Schwind E; Beth Israel Medical Center, New York, NY, USA, eschwind@chpnet.org., Karczeski B, Strecker MN, Redman J, Sugarman EA, Zaleski C, Brown T, Keiles S, Powers A, Ghate S, Darrah R

Publikováno v: Journal of genetic counseling [J Genet Couns] 2014 Feb; Vol. 23 (1), pp. 5-15. Date of Electronic Publication: 2013 Sep 07.

Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.

Autor: Goldman JS; Department of Neurology, Columbia University, New York, New York, USA. jg2673@columbia.edu [corrected], Hahn SE, Catania JW, LaRusse-Eckert S, Butson MB, Rumbaugh M, Strecker MN, Roberts JS, Burke W, Mayeux R, Bird T

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2011 Jun; Vol. 13 (6), pp. 597-605.