Results 171 to 180 of about 1,217,808 (321)

Clinical genetics [PDF]

Journal of Medical Genetics, 1998
openaire   +1 more source

P484: Improving the capacity of the clinical genetics workforce through an implementation science lens [PDF]

Maren T. Scheuner, Paloma Sales, Tanvir Hussain, Regina Godbout, Shweta U. Dhar   +4 more
openalex   +1 more source

Predictors of response and rational combinations for the novel MCL‐1 inhibitor MIK665 in acute myeloid leukemia

Molecular Oncology, EarlyView.
This study characterizes the responses of primary acute myeloid leukemia (AML) patient samples to the MCL‐1 inhibitor MIK665. The results revealed that monocytic differentiation is associated with MIK665 sensitivity. Conversely, elevated ABCB1 expression is a potential biomarker of resistance to the treatment, which can be overcome by the combination ...
Joseph Saad, Rhiannon Newman, Elmira Khabusheva, Sofia Aakko, Eric Durand, Mahesh Tambe, Heikki Kuusanmäki, Alun Parsons, Juho J. Miettinen, Komal Kumar Javarappa, Ezgi June Olgac, Nemo Ikonen, Mika Kontro, Kimmo Porkka, Heiko Maacke, Janghee Woo, Ensar Halilovic, Caroline A. Heckman   +17 more
wiley   +1 more source

Predicting Atrial Fibrillation after Ischemic Stroke: Clinical, Genetics, and Electrocardiogram Modelling. [PDF]

Cerebrovasc Dis Extra, 2023
Poh MQW, Tham CH, Chee JDMS, Saffari SE, Tan KWK, Tan LW, Ng EY, Yeo CPX, Seet CYH, Xie JP, Lai JY, Singh R, Tan EK, Tu TM.   +13 more
europepmc   +1 more source

Feasibility of a ctDNA multigenic panel for non‐small‐cell lung cancer early detection and disease surveillance

Molecular Oncology, EarlyView.
Plasma‐based detection of actionable mutations is a promising approach in lung cancer management. Analysis of ctDNA with a multigene NGS panel identified TP53, KRAS, and EGFR as the most frequently altered, with TP53 and KRAS in treatment‐naïve patients and TP53 and EGFR in previously treated patients.
Giovanna Maria Stanfoca Casagrande, Marcela de Oliveira Silva, Mariana Bisarro dos Reis, Rodrigo de Oliveira Cavagna, Luciane Sussuchi, Icaro Alves Pinto, Natalia Zampieri Pontes, Rodrigo Sampaio Chiarantano, Flavio Augusto Ferreira da Silva, Pedro de Marchi, Letícia Ferro Leal, Rui M. Reis   +11 more
wiley   +1 more source

Genomic findings of hypertrophic and dilated cardiomyopathy characterized in a Thai clinical genetics service. [PDF]

PLoS One, 2022
Trachoo O, Yingchoncharoen T, Ngernsritrakul T, Iemwimangsa N, Panthan B, Klumsathian S, Srisukh S, Mukdadilok A, Phusanti S, Charoenyingwattana A, Chareonsirisuthigul T, Chantratita W, Tangcharoen T.   +12 more
europepmc   +1 more source

Tumor and germline testing with next generation sequencing in epithelial ovarian cancer: a prospective paired comparison using an 18‐gene panel

Molecular Oncology, EarlyView.
Genetic testing in epithelial ovarian cancer includes both germline and tumor‐testing. This approach often duplicates resources. The current prospective study assessed the feasibility of tumor‐first multigene testing by comparing tumor tissue with germline testing of peripheral blood using an 18‐gene NGS panel in 106 patients.
Elisabeth Spenard, Cristina Mitric, Melanie Care, Tracy L. Stockley, Raymond H. Kim, Jeanna McCuaig, Blaise Clarke, Laura Ranich, Clare Sheen, Sarah E. Ferguson, Liat Hogen, Taymaa May, Marcus Q. Bernardini   +12 more
wiley   +1 more source

Integrating clinical genetics in cardiology: Current practices and recommendations for education. [PDF]

Genet Med, 2022
Scherr CL, Kalke K, Ramesh S, Fakhari H, Dellefave-Castillo LM, Smith ME, Kalny C, McNally EM, Rasmussen-Torvik LJ.   +8 more
europepmc   +1 more source

Diagnostic Testing in Epilepsy Genetics Clinical Practice

, 2018
Biruté Tumiene, Algirdas Utkus, Vaidutis Kučinskas, Aleš Maver, Borut Peterlin   +4 more
openalex   +2 more sources

Plasma extrachromosomal circular DNA as a biomarker in EGFR‐targeted therapy of non‐small cell lung cancer

Molecular Oncology, EarlyView.
Detection of extrachromosomal circular DNA (eccDNA) in plasma samples from EGFR‐mutated non‐small cell lung cancer patients. Plasma was collected before and during treatment with the EGFR‐tyrosine kinase inhibitor osimertinib. Plasma eccDNA was detected in all cancer samples, and the presence of the EGFR gene on eccDNA serves as a potential biomarker ...
Simone Stensgaard, Sarmad Mehmood, Eva Boysen Fynboe Ebert, Peter Meldgaard, Anindya Dutta, Boe S. Sorensen   +5 more
wiley   +1 more source