Results 181 to 190 of about 688,262 (355)

Longitudinal circulating tumor DNA profiling in patients with advanced endometrial cancer using an off‐the‐shelf targeted NGS panel

Molecular Oncology, EarlyView.
Intratumour heterogeneity complicates precision management of advanced endometrial cancer. Circulating tumor DNA (ctDNA) offers a minimally invasive strategy to capture tumor evolution and therapeutic resistance. Here, we compare tumor‐agnostic NGS with tumor‐informed ddPCR, outlining their relative sensitivity, concordance, and clinical implications ...
Carlos Casas‐Arozamena, Karin Teien Lande, Eva Diaz, Ana Vilar, Juan Cueva, Efigenia Arias, Victoria Sampayo, Alicia Abalo, Nerea González, Eva Colás, Antonio Gil‐Moreno, Miguel Abal, Gema Moreno‐Bueno, Therese Sørlie, Kristina Lindemann, Laura Muinelo‐Romay   +15 more
wiley   +1 more source

Clinical genetics [PDF]

BMJ, 2001
J. P. van Tintelen, C. Marcelis, I. M. van Langen   +2 more
  +4 more sources

<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

Molecular technology vs clinical practice: a hypothesis in genetics [PDF]

, 2010
Haris Kokotas
openalex   +1 more source

ESR1 methylation and ESR1 mutations in circulating tumor cells (CTCs) and paired plasma‐cfDNA of advanced breast cancer patients: A feasibility proof‐of‐concept study

Molecular Oncology, EarlyView.
Circulating tumor cells (CTCs) and plasma cell‐free DNA (cfDNA) were analyzed to detect ESR1 mutations and methylation in patients with advanced breast cancer. CTC‐derived DNA showed higher sensitivity for mutation detection and revealed complementary genetic and epigenetic alterations, highlighting the added value of CTC analysis for understanding ...
Dimitra Stergiopoulou, Athina Markou, Eleonora Nicolo, Mara S Serafini, Qiang Zhang, Youbin Zhang, Lorenzo Gerratana, Andrew A. Davis, Huiping Liu, William J Gradishar, Carolina Reduzzi, Massimo Cristofanilli, Evi Lianidou   +12 more
wiley   +1 more source

Maturity-Onset Diabetes of the Young 10 (MODY10): A Comprehensive Review of Genetics, Clinical Features, and Therapeutic Advances. [PDF]

Int J Mol Sci
Mazloum A, Feoktistova SG, Gubaeva A, Alsalloum A, Mityaeva ON, Kim A, Bodunova NA, Woroncow MV, Volchkov PY.   +8 more
europepmc   +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

Data from Gender Disparities in the Tumor Genetics and Clinical Outcome of Multiple Myeloma

, 2023
Kevin Boyd, Fiona M. Ross, Laura Chiecchio, Gian Paolo Dagrada, Zoë J. Konn, William Tapper, Brian A. Walker, Christopher P. Wardell, Walter M. Gregory, Alex J. Szubert, Faith E. Davies, Gareth J. Morgan   +11 more
openalex   +1 more source

Interpreting the effects of DNA polymerase variants at the structural level

Molecular Oncology, EarlyView.
Using MAVISp and molecular dynamics simulations, we analyzed over 60 000 missense variants in POLE and POLD1 from ClinVar, COSMIC, cBioPortal, and saturation mutagenesis. Identified mechanistic indicators, including stability, binding, and long‐range, enable structural interpretation, providing ACMG‐like evidence for possible reclassification of VUS ...
Matteo Arnaudi, Karolina Krzesińska, Ludovica Beltrame, Pablo Sánchez‐Izquierdo Besora, Matteo Tiberti, Mef Nilbert, Anna Rohlin, Elena Papaleo   +7 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