Results 11 to 20 of about 5,245 (170)

Quantitative Analysis of BRCA1 and BRCA2 Germline Splicing Variants Using a Novel RNA-Massively Parallel Sequencing Assay

Frontiers in Oncology, 2018
Clinical genetic testing for hereditary breast and ovarian cancer (HBOC) is becoming widespread. However, the interpretation of variants of unknown significance (VUS) in HBOC genes, such as the clinically actionable genes BRCA1 and BRCA2, remain a ...
Suzette Farber-Katz, Vickie Hsuan, Sitao Wu, Tyler Landrith, Huy Vuong, Dong Xu, Bing Li, Jayne Hoo, Stephanie Lam, Sarah Nashed, Deborah Toppmeyer, Phillip Gray, Ginger Haynes, Hsiao-Mei Lu, Aaron Elliott, Brigette Tippin Davis, Rachid Karam   +16 more
doaj   +1 more source

Análisis de cuatro sistemas silvopastoriles en Perú: Caracterización física y nutricional de pasturas, composición florística, reserva de carbono y CO2

Scientia Agropecuaria, 2020
Se identificaron cuatro sistemas silvopastoriles (SSP) y un sistema sin árboles para medir variables como: materia fresca, materia seca y composición florística (época seca y lluviosa); composición nutricional; biomasa: arbórea, herbácea, hojarasca y ...
Héctor Vásquez, Leandro Valqui, Julio C. Alegre, Carlos Gómez, Jorge Maicelo   +4 more
doaj   +1 more source

Critical evaluation of ECOSAR and E-FAST platforms to predict ecological risks of PFAS

Environmental Advances, 2022
Per- and polyfluoroalkyl substances (PFAS) are ubiquitous in the environment. Unlike other persistent chemicals, PFAS are highly soluble in water and tend to partition to surface and groundwater rather than soil and sediment.
Andrey Massarsky, Melinda T. Donnell, Elise de Gandiaga, Jordan S. Kozal, Lindsey Garnick, Jody A. Kubitz, Steven M. Bartell, Andrew D. Monnot   +7 more
doaj   +1 more source

Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes

International Journal of Breast Cancer, 2016
Genetic testing for hereditary breast cancer is an integral part of individualized care in the new era of precision medicine. The accuracy of an assay is reliant on not only the technology and bioinformatics analysis utilized but also the experience and ...
T. Pesaran, R. Karam, R. Huether, S. Li, S. Farber-Katz, A. Chamberlin, H. Chong, H. LaDuca, A. Elliott   +8 more
doaj   +1 more source

El fenómeno Rey de los Alisos

Perspectivas Revista de Ciencias Sociales, 2022
La pandemia por COVID-19 desató una emergencia sanitaria de dimensiones inéditas alrededor del planeta. En cuestión de meses, el virus cambió radicalmente la vida de millones de personas y sus efectos parecen ya evidenciar riesgos particulares para las niñas y los niños, sobre todo en aquellas familias que viven en situaciones de vulnerabilidad.
openaire   +4 more sources

Ten Years of Clinical Evaluation of the Woven EndoBridge: A Safe and Effective Treatment for Wide-Neck Bifurcation Aneurysms [PDF]

Neurointervention, 2021
Intrasaccular flow disruption is an innovative approach for the endovascular treatment of intracranial aneurysms. As of now, only one device is currently available worldwide: the Woven EndoBridge (WEB) device (MicroVention, Aliso Viejo, CA, USA).
Laurent Pierot
doaj   +1 more source

Serial changes in liquid biopsy-derived variant allele frequency predict immune checkpoint inhibitor responsiveness in the pan-cancer setting

OncoImmunology, 2022
Major immunotherapy challenges include a limited number of predictive biomarkers and the unusual imaging features post-therapy, such as pseudo-progression, which denote immune infiltrate-mediated tumor enlargement.
Shumei Kato, Bing Li, Jacob J. Adashek, Seong Won Cha, Daniella Bianchi-Frias, Dajun Qian, Lisa Kim, Tiffany W so, Marcus Mitchell, Naoki Kamei, Robert Hoiness, Jayne Hoo, Phillip N. Gray, Teruaki Iyama, Masahide Kashiwagi, Hsiao-Mei Lu, Razelle Kurzrock   +16 more
doaj   +1 more source

Diagnostic exome sequencing identifies GLI2 haploinsufficiency and chromosome 20 uniparental disomy in a patient with developmental anomalies

Clinical Case Reports, 2018
Key Clinical Message Clinical diagnostic exome sequencing (DES) is currently infrequently used for detecting uniparental disomy (UPD). We present a patient with a dual diagnosis of GLI2 haploinsufficiency as well as UPD of chromosome 20, both identified ...
Samin A. Sajan, Zöe Powis, Katherine L. Helbig, Honey Nagakura, Ladonna Immken, Sha Tang, Wendy A. Alcaraz   +6 more
doaj   +1 more source

Supervivencia y crecimiento de Alnus glutinosa (L.) Gaertn en campo definitivo: evaluación en Huancavelica, Perú

Revista de Investigación e Innovación Agropecuaria y de Recursos Naturales
El distrito Pampas reporta escasez de agua, causado por la deforestación en las microcuencas. En tal sentido, se realizó la reforestación utilizando especie nativa como el Alnus glutinosa (L.) Gaertn (aliso), con el fin de que en el futuro retenga el ...
Jairo Edson Gutiérrez-Collao, Charles Frank Saldaña-Chafloque, Nilton Paul Arias Palomino, Emerson Klim Aquino Bujaico, Jhon Deyvis Chamorro Sinchi   +4 more
doaj   +1 more source

Clinical Report of a 17q12 Microdeletion with Additionally Unreported Clinical Features

Case Reports in Genetics, 2014
Copy number variations involving the 17q12 region have been associated with developmental and speech delay, autism, aggression, self-injury, biting and hitting, oppositional defiance, inappropriate language, and auditory hallucinations. We present a tall-
Jennifer L. Roberts, Stephanie K. Gandomi, Melissa Parra, Ira Lu, Chia-Ling Gau, Majed Dasouki, Merlin G. Butler   +6 more
doaj   +1 more source