PMC Links for Books (Select 4431564) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Abstract Article PDF–776K

Select item 88859672.

Factor V east Texas variant causes bleeding in a three-generation family

Julie A. Peterson, Sweta Gupta, Nicholas D. Martinez, Brandon Hardesty, Susan A. Maroney, Alan E. Mast

J Thromb Haemost. Author manuscript; available in PMC 2023 Mar 1.

Published in final edited form as: J Thromb Haemost. 2022 Mar; 20(3): 565–573. Published online 2021 Dec 7. doi: 10.1111/jth.15612

PMCID:: PMC8885967

Abstract Article PDF–2.1M

Select item 78073913.

Identification of Cardiac Fibrosis in Young Adults With a Homozygous Frameshift Variant in SERPINE1

Sadiya S. Khan, Sanjiv J. Shah, Jennifer L. Strande, Abigail S. Baldridge, Panagiotis Flevaris, Megan J. Puckelwartz, Elizabeth M. McNally, Laura J. Rasmussen-Torvik, Daniel C. Lee, James C. Carr, Brandon C. Benefield, Muhammad Zeeshan Afzal, Meadow Heiman, Sweta Gupta, Amy D. Shapiro, Douglas E. Vaughan

JAMA Cardiol. 2021 Jul; 6(7): 1–6. Published online 2021 Jan 13. doi: 10.1001/jamacardio.2020.6909

Correction in:: JAMA Cardiol. 2021 Jul; 6(7): 855.

PMCID:: PMC7807391

Abstract Article

Select item 74972894.

The Human Gene Mutation Database (HGMD^®): optimizing its use in a clinical diagnostic or research setting

Peter D. Stenson, Matthew Mort, Edward V. Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S. Millar, Andrew D. Phillips, David N. Cooper

Hum Genet. 2020; 139(10): 1197–1207. Published online 2020 Jun 28. doi: 10.1007/s00439-020-02199-3

PMCID:: PMC7497289

Abstract Article PDF–2.5M

Select item 57844005.

Plasminogen Activator Inhibitor Type I Controls Cardiomyocyte Transforming Growth Factor-β and Cardiac Fibrosis

Panagiotis Flevaris, Sadiya S. Khan, Mesut Eren, Adam J. T. Schuldt, Sanjiv J. Shah, Daniel C. Lee, Sweta Gupta, Amy D. Shapiro, Paul W. Burridge, Asish K. Ghosh, Douglas E. Vaughan

Circulation. Author manuscript; available in PMC 2018 Aug 15.

Published in final edited form as: Circulation. 2017 Aug 15; 136(7): 664–679. Published online 2017 Jun 6. doi: 10.1161/CIRCULATIONAHA.117.028145

PMCID:: PMC5784400

Abstract Article PDF–1.0M

Select item 45447536.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 36658227.

Global Gene Expression Profiling in PAI-1 Knockout Murine Heart and Kidney: Molecular Basis of Cardiac-Selective Fibrosis

Asish K. Ghosh, Sheila B. Murphy, Raj Kishore, Douglas E. Vaughan

PLoS One. 2013; 8(5): e63825. Published online 2013 May 28. doi: 10.1371/journal.pone.0063825

PMCID:: PMC3665822

Abstract Article PDF–13M

Select item 3038858.

Bleeding diathesis due to decreased functional activity of type 1 plasminogen activator inhibitor.

R R Schleef, D L Higgins, E Pillemer, L J Levitt

J Clin Invest. 1989 May; 83(5): 1747–1752. doi: 10.1172/JCI114076

PMCID:: PMC303885

Summary Page Browse PDF–1.7M

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