Zobrazeno 1 - 10
of 2 426
pro vyhledávání: '"M, Helm"'
Autor:
Benjamin M. Helm, Lindsey R. Helvaty, Erin Conboy, Gabrielle C. Geddes, Brett H. Graham, Melissa Lah, Leah Wetherill, Benjamin J. Landis, Stephanie M. Ware
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 11, Pp n/a-n/a (2024)
ABSTRACT Background Dysmorphology evaluation is important for congenital heart disease (CHD) assessment, but there are no prior investigations quantifying the screening performance compared to standardized genetics evaluations. We investigated this t
Externí odkaz:
https://doaj.org/article/551b950817c64a61b3f25def3273b75d
Autor:
Morad Ansari, Kamli N.W. Faour, Akiko Shimamura, Graeme Grimes, Emeline M. Kao, Erica R. Denhoff, Ana Blatnik, Daniel Ben-Isvy, Lily Wang, Benjamin M. Helm, Helen Firth, Amy M. Breman, Emilia K. Bijlsma, Aiko Iwata-Otsubo, Thomy J.L. de Ravel, Vincent Fusaro, Alan Fryer, Keith Nykamp, Lara G. Stühn, Tobias B. Haack, G. Christoph Korenke, Panayiotis Constantinou, Kinga M. Bujakowska, Karen J. Low, Emily Place, Jennifer Humberson, Melanie P. Napier, Jessica Hoffman, Jane Juusola, Matthew A. Deardorff, Wanqing Shao, Shira Rockowitz, Ian Krantz, Maninder Kaur, Sarah Raible, Victoria Dortenzio, Sabine Kliesch, Moriel Singer-Berk, Emily Groopman, Stephanie DiTroia, Sonia Ballal, Siddharth Srivastava, Kathrin Rothfelder, Saskia Biskup, Jessica Rzasa, Jennifer Kerkhof, Haley McConkey, Bekim Sadikovic, Sarah Hilton, Siddharth Banka, Frank Tüttelmann, Donald F. Conrad, Anne O’Donnell-Luria, Michael E. Talkowski, David R. FitzPatrick, Philip M. Boone
Publikováno v:
HGG Advances, Vol 5, Iss 2, Pp 100273- (2024)
Summary: Heterozygous missense variants and in-frame indels in SMC3 are a cause of Cornelia de Lange syndrome (CdLS), marked by intellectual disability, growth deficiency, and dysmorphism, via an apparent dominant-negative mechanism. However, the spe
Externí odkaz:
https://doaj.org/article/be0b7360900245738bb5fa3eedf88913
Autor:
Matthew D. Durbin, Lindsey R. Helvaty, Ming Li, William Border, Sara Fitzgerald-Butt, Vidu Garg, Gabrielle C. Geddes, Benjamin M. Helm, Seema R. Lalani, Kim L. McBride, Alexis McEntire, Dana K. Mitchell, Chaya N. Murali, Stephanie B. Wechsler, Benjamin J. Landis, Stephanie M. Ware
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100814- (2023)
Purpose: For patients with congenital heart disease (CHD), the most common birth defect, genetic evaluation is not universally accepted, and current practices are anecdotal. Here, we analyzed genetic evaluation practices across centers, determined di
Externí odkaz:
https://doaj.org/article/6e7126e01ae843229c6b557e44a82b1c
Autor:
Rebecca M. Tuska, Sophia M. Helm, C. Foster Graf, Courtney James, Gabriel Kong, Leah T. Stiemsma, David B. Green, Susan Edgar Helm
Publikováno v:
Frontiers in Nutrition, Vol 9 (2023)
Intestinal microbiota, diet, and physical activity are inextricably linked to inflammation occurring in the presence of tumor progression and declining neurocognition. This study aimed to explore how fecal microbiota, inflammatory biomarkers, and neu
Externí odkaz:
https://doaj.org/article/2e66e7ff048f47e58adbd8fd40b3b5b5
Autor:
Benjamin J. Landis, Benjamin M. Helm, Jeremy L. Herrmann, Madeline C. Hoover, Matthew D. Durbin, Lindsey R. Elmore, Manyan Huang, Michael Johansen, Ming Li, Leon F. Przybylowski, Gabrielle C. Geddes, Stephanie M. Ware
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 11, Iss 19 (2022)
Background Our cardiac center established a systematic approach for inpatient cardiovascular genetics evaluations of infants with congenital heart disease, including routine chromosomal microarray (CMA) testing. This provides a new opportunity to inv
Externí odkaz:
https://doaj.org/article/40115732d18f4259bb543ce4c57ec276
Publikováno v:
Technologies, Vol 11, Iss 3, p 71 (2023)
As wearable technology (WT) has evolved, devices have developed the ability to track a range of physiological variables. These include maximal aerobic capacity (VO2max) and lactate threshold (LT). With WT quickly growing in popularity, independent ev
Externí odkaz:
https://doaj.org/article/3d0e5078af224e15902212019fa6c17c
Publikováno v:
Antioxidants, Vol 12, Iss 6, p 1182 (2023)
Cardiometabolic conditions are closely associated with inflammation and oxidative stress. Dietary berries may serve as a beneficial nutrition intervention to address the features of cardiometabolic dysfunction and associated oxidative stress. The hig
Externí odkaz:
https://doaj.org/article/519f73fa9ebf4b96b74fc1ea3bec109a
Autor:
T Wurmb, N Schorscher, P Justice, S Dietz, R Schua, T Jarausch, U Kinstle, J Greiner, G Möldner, J Müller, M Kraus, S Simon, U Wagenhäuser, J Hemm, N Roewer, M Helm
Publikováno v:
Scandinavian Journal of Trauma, Resuscitation and Emergency Medicine, Vol 26, Iss 1, Pp 1-15 (2018)
Abstract Background Until now there has been a reported lack of systematic reports and scientific evaluations of rescue missions during terror attacks. This however is urgently required in order to improve the performance of emergency medical service
Externí odkaz:
https://doaj.org/article/7db10d245d53405b942d612267855e17
Autor:
Margaret E. Armstrong, David D. Weaver, Melissa D. Lah, Gail H. Vance, Benjamin J. Landis, Stephanie M. Ware, Benjamin M. Helm
Publikováno v:
Molecular Cytogenetics, Vol 11, Iss 1, Pp 1-9 (2018)
Abstract Background Supernumerary marker chromosomes derived from chromosome 5 (SMC5) and 5p13 duplication syndrome are rare disorders, and phenotypic descriptions of patients are necessary to better define genotype-phenotype correlations for accurat
Externí odkaz:
https://doaj.org/article/c2f6926b75584a169aec0e6ed77b3a2d
Autor:
Allison F. Rickman, Sara M. Fitzgerald‐Butt, Katherine G. Spoonamore, Stephanie M. Ware, Benjamin M. Helm
Publikováno v:
Journal of Genetic Counseling. 32:362-375
Cardiovascular genetic counseling has expanded as an established genetic counseling specialty over the last 20 years. Despite guidelines recommending genetic counseling for heritable cardiac diseases, there have been limited descriptions of the pract
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35446f8a00538011f7d83a5814ba01cf
https://doi.org/10.1002/jgc4.1643
https://doi.org/10.1002/jgc4.1643