Results 231 to 240 of about 1,273,127 (279)

An introduction to medical genetics. Second edition

, 1959
C. A. Clarke
openalex   +1 more source

Cis‐regulatory and long noncoding RNA alterations in breast cancer – current insights, biomarker utility, and the critical need for functional validation

Molecular Oncology, EarlyView.
The noncoding region of the genome plays a key role in regulating gene expression, and mutations within these regions are capable of altering it. Researchers have identified multiple functional noncoding mutations associated with increased cancer risk in the genome of breast cancer patients.
Arnau Cuy Saqués, Aracele Martinez‐Mendez, John Crown, Alex Eustace   +3 more
wiley   +1 more source

Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med
Seifert BA, Reddi HV, Kang BE, Bean LJH, Shealy A, Rose NC, ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net.   +6 more
europepmc   +1 more source

Methylation biomarkers can distinguish pleural mesothelioma from healthy pleura and other pleural pathologies

Molecular Oncology, EarlyView.
We developed and validated a DNA methylation–based biomarker panel to distinguish pleural mesothelioma from other pleural conditions. Using the IMPRESS technology, we translated this panel into a clinically applicable assay. The resulting two classifier models demonstrated excellent performance, achieving high AUC values and strong diagnostic accuracy.
Janah Vandenhoeck, Nele De Meulenaere, Thomas Vanpoucke, Joe Ibrahim, Dieter Peeters, Suresh Krishan Yogeswaran, Wen Wen, Paul Van Schil, Jeroen M. H. Hendriks, Jo Raskin, Jan van Meerbeeck, Guy Van Camp, Ken Op de Beeck   +12 more
wiley   +1 more source

Trofinetide approved for children and adults with Rett syndrome (RTT): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Selvam P, Mares Beltrán CF, Sen K, Morales Corado A, ACMG Therapeutics Committee5∗documents@acmg.net.   +4 more
europepmc   +1 more source

Diversity, inclusion and equity in medical genetics: The time is now. [PDF]

Am J Med Genet A, 2020
Quintero-Rivera F, Hisama FM.
europepmc   +1 more source

Strength through diversity: how cancers thrive when clones cooperate

Molecular Oncology, EarlyView.
Intratumor heterogeneity can offer direct benefits to the tumor through cooperation between different clones. In this review, Kuiken et al. discuss existing evidence for clonal cooperativity to identify overarching principles, and highlight how novel technological developments could address remaining open questions.
Marije C. Kuiken, Maartje Witsen, Emile E. Voest, Krijn K. Dijkstra   +3 more
wiley   +1 more source

Bioinformatics Methods in Medical Genetics and Genomics. [PDF]

Int J Mol Sci, 2020
Orlov YL, Baranova AV, Tatarinova TV.
europepmc   +1 more source

Detection of circulating tumor DNA in colorectal cancer patients using a methylation‐specific droplet digital PCR multiplex

Molecular Oncology, EarlyView.
We developed a cost‐effective methylation‐specific droplet digital PCR multiplex assay containing tissue‐conserved and tumor‐specific methylation markers. The assay can detect circulating tumor DNA with high accuracy in patients with localized and metastatic colorectal cancer.
Luisa Matos do Canto, Louise Raunkilde, Jan Lindebjerg, Mads Malik Aagaard, Christina Therkildsen, Jakob Kleif, Lars Henrik Jensen, Torben Frøstrup Hansen, Rikke Fredslund Andersen   +8 more
wiley   +1 more source