Results 171 to 180 of about 1,217,828 (289)

Diagnostic Testing in Epilepsy Genetics Clinical Practice

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

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG) [PDF]

, 2023
J.S. Dungan, Susan Klugman, Sandra Darilek, Jennifer Malinowski, Yassmine Akkari, Kristin G. Monaghan, Angelika Erwin, Robert G. Best   +7 more
openalex   +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

PCARE-Associated Retinopathy - Genetics, Clinical Characteristics, and Natural History. [PDF]

Invest Ophthalmol Vis Sci
Bianco L, Antropoli A, Benadji A, Atia R, Palacci O, Condroyer C, Antonio A, Navarro J, Battaglia Parodi M, Sahel JA, Zeitz C, Audo I.   +11 more
europepmc   +1 more source

Are You AI's Favorite? EU Legal Implications of Biased AI Systems in Clinical Genetics and Genomics

, 2021
Anastasiya Kiseleva, Paul Quinn
openalex   +1 more source

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

<i>Helicobacter pylori</i> Across Continents: Contrasts in Epidemiology, Genetics, Clinical Impact, and Management Between East and West. [PDF]

Int J Mol Sci
Namikawa K, Purisevic FL, Thorsteinsson JB, Bjornsson ES.   +3 more
europepmc   +1 more source

Survivin and Aurora Kinase A control cell fate decisions during mitosis

Molecular Oncology, EarlyView.
Aurora A interacts with survivin during mitosis and regulates its centromeric role. Loss of Aurora A activity mislocalises survivin, the CPC and BubR1, leading to disruption of the spindle checkpoint and triggering premature mitotic exit, which we refer to as ‘mitotic slippage’.
Hana Abdelkabir, Shalitha Wickrama Arachchige, Sally P. Wheatley   +2 more
wiley   +1 more source

CDK11 inhibition induces cytoplasmic p21WAF1 splice variant by p53 stabilisation and SF3B1 inactivation

Molecular Oncology, EarlyView.
CDK11 inhibition stabilises the tumour suppressor p53 and triggers the production of an alternative p21WAF1 splice variant p21L, through the inactivation of the spliceosomal protein SF3B1. Unlike the canonical p21WAF1 protein, p21L is localised in the cytoplasm and has reduced cell cycle‐blocking activity.
Radovan Krejcir, Lukasz Arcimowicz, Lucia Martinkova, Vaclav Hrabal, Filip Zavadil Kokas, Tomas Henek, Martina Kucerikova, Ondrej Bonczek, Pavlina Zatloukalova, Lenka Hernychova, Philip J. Coates, Borivoj Vojtesek, David P. Lane   +12 more
wiley   +1 more source

Alpha-1 antitrypsin deficiency: genetics, clinical manifestations, AI prognostics, and advanced imaging in liver disease. [PDF]

Ann Med Surg (Lond)
Rajab I, Marin MP, Shubietah A, Khaled A, Bdair M, Abukhalil MM, Jallad H, Hussein A, Aldwaik SA, Salvatore MM.   +9 more
europepmc   +1 more source