Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Susan Ludwigsen"'
Publikováno v:
Methods and Protocols, Vol 3, Iss 3, p 54 (2020)
Stable isotopic tracer analysis is a technique used to determine carbon or nitrogen atom incorporation into biological systems. A number of mass spectrometry based approaches have been developed for this purpose, including high-resolution tandem mass
Externí odkaz:
https://doaj.org/article/f521364230124dada4ac16f70c7a52dd
Publikováno v:
Methods and Protocols
Volume 3
Issue 3
Methods and Protocols, Vol 3, Iss 54, p 54 (2020)
Volume 3
Issue 3
Methods and Protocols, Vol 3, Iss 54, p 54 (2020)
Stable isotopic tracer analysis is a technique used to determine carbon or nitrogen atom incorporation into biological systems. A number of mass spectrometry based approaches have been developed for this purpose, including high-resolution tandem mass
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::888f34e14c50542c80ffe07575f55b91
https://doi.org/10.3390/mps3030054
https://doi.org/10.3390/mps3030054
Autor:
Jason Cowan, Jessica D. Kushner, Ana Morales, Susan Ludwigsen, Duanxiang Li, James D. Potter, Sharie B. Parks, Michelle S. Parvatiyar, Ray E. Hershberger, Jose R. Pinto
Publikováno v:
Circulation: Cardiovascular Genetics. 2:306-313
Background— A key issue for cardiovascular genetic medicine is ascertaining if a putative mutation indeed causes dilated cardiomyopathy (DCM). This is critically important as genetic DCM, usually presenting with advanced, life-threatening disease,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25c5611862dcac7ba41cde2750397825
https://doi.org/10.1161/circgenetics.108.846733
https://doi.org/10.1161/circgenetics.108.846733
Autor:
Ray E. Hershberger, Susan Ludwigsen, George A. Pantely, Donna Burgess, Jessica D. Kushner, Sharie B. Parks, Deirdre Nauman, Emily Burkett
Publikováno v:
Journal of Cardiac Failure. 12:422-429
Background Familial dilated cardiomyopathy (FDC) is dilated cardiomyopathy of unknown cause occurring in 2 or more closely related family members. Methods and Results Members of 304 families suspected to have FDC were evaluated by family history (FH)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b76b5dd53a14798e68489e682c806b14
https://doi.org/10.1016/j.cardfail.2006.03.009
https://doi.org/10.1016/j.cardfail.2006.03.009
Autor:
Joanne C. Porter, Beverly S. Emanuel, David J. Duggan, Richard S. Spielman, Jennifer M. Puck, Susan Ludwigsen, Bosheng Yang, Kenneth H. Buetow, Marcia L. Budarf
Publikováno v:
Genomics. 18:329-339
Utilizing the CEPH (Centre d'Etude du Polymorphisme Humain) reference panel and genotyping data for 24 simple tandem repeat polymorphism (STRP) markers, we have constructed a 15-locus multipoint genetic framework map of human chromosome 22. The marke
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::468ce7544dde9d36de968b06d5e5ef29
https://doi.org/10.1006/geno.1993.1473
https://doi.org/10.1006/geno.1993.1473
Autor:
Jessica D. Kushner, Sharie B. Parks, Julie Partain, Ray E. Hershberger, Michael Litt, Susan Ludwigsen, Deirdre Nauman, Duanxiang Li, Donna Burgess, Petra M. Jakobs
Publikováno v:
Clinical and translational science. 1(1)
More than 20 genes have been reported to cause idiopathic and familial dilated cardiomyopathy (IDC/FDC), but the frequency of genetic causation remains poorly understood.Blood samples were collected and DNA prepared from 313 patients, 183 with FDC an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9c55c74ec50afb60e885887a0529bfa
https://pubmed.ncbi.nlm.nih.gov/19412328
https://pubmed.ncbi.nlm.nih.gov/19412328
Autor:
Peter S. Rahko, Deirdre Nauman, Petra M. Jakobs, Sharie B. Parks, Amanda Peterson, Duanxiang Li, Jessica D. Kushner, Charles B. Porter, Ray E. Hershberger, Michael Litt, Susan Ludwigsen, Donna Burgess
Publikováno v:
American heart journal. 156(1)
Background Lamin A/C mutations are a well-established cause of dilated cardiomyopathy (DCM), although their frequency has not been examined in a large cohort of patients. We sought to examine the frequency of mutations in LMNA , the gene encoding lam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35eb12a44ad53fc2faa0ecb600cfba1d
https://pubmed.ncbi.nlm.nih.gov/18585512
https://pubmed.ncbi.nlm.nih.gov/18585512
Autor:
Kenneth H. Buetow, Susan Ludwigsen, Titia Scherpbier-Heddema, John Quillen, Jeffrey C. Murray, Val C. Sheffield, Geoffrey M. Duyk, James L. Weber, Jean Weissenbach, Gabor Gyapay, Colette Dib, Alain Vignal, Ray White, Norisada Matsunami, Steven Gerken, Roberta Mells, Hans Albertsen, Kenneth Ward, Rosemarie Plaetke, Shannon Odelberg, David Ward, Patricia Bray-Ward, Joan Menninger, Jonathan Lieman, Trushna Desai, Amy Banks
Publikováno v:
Science (New York, N.Y.). 265(5181)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39afd75a9eecaa194241c673f9ed2e5c
https://pubmed.ncbi.nlm.nih.gov/8091228
https://pubmed.ncbi.nlm.nih.gov/8091228
Autor:
Geoffrey M. Duyk, James L. Weber, Kenneth H. Buetow, Susan Ludwigsen, T. Scherpbier-Heddema, Val C. Sheffield, Jeffrey C. Murray, Zhenyuan Wang
Publikováno v:
Nature genetics. 6(4)
High resolution linkage maps have proven to be invaluable tools in genetic investigations. We have assembled a collection of genetic maps constructed from primary data collected from investigators performing genotyping using the Centre Etude Polymorp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb7929b39e98c8cbc0c9f15892804d6d
https://pubmed.ncbi.nlm.nih.gov/8054980
https://pubmed.ncbi.nlm.nih.gov/8054980
Autor:
Jessica D. Kushner, Sharie B. Parks, Robert P. Irwin, Petra M. Jakobs, Julie Partain, Duanxiang Li, Donna Burgess, Charles N. Allen, Ray E. Hershberger, Michael Litt, Deirdre Nauman, Randal R. Nixon, Susan Ludwigsen
Publikováno v:
The American Journal of Human Genetics. (6):1030-1039
Two common disorders of the elderly are heart failure and Alzheimer disease (AD). Heart failure usually results from dilated cardiomyopathy (DCM). DCM of unknown cause in families has recently been shown to result from genetic disease, highlighting n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::355ed933674d192d26f126b08c290ee4