Results 111 to 120 of about 49,880 (266)

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Broader gene representation by whole-exome sequencing improves accuracy of tumor mutational burden assessment for selection of pembrolizumab immunotherapy. [PDF]

Cancer Immunol Immunother
Radovich M, Wacker J, Solzak J, Tae H, Ribeiro JR, Maney T, Hancock B, Hamrick J, Sledge GW, Ahluwalia MS, Liu SV, Lou E, Subbiah V, Halmos B, Magee D, Spetzler DB.   +15 more
europepmc   +1 more source

Hormone therapy (HT) in women with premature ovarian insufficiency or early menopause: Time to think of a new paradigm for healthy aging. A joint FIGO and IMS position paper

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Premature ovarian insufficiency (POI) and early menopause (EM) affect millions of women worldwide. Compared with normal menopause, they confer a longer duration of estrogen deficiency and are associated not only with a shorter lifespan, but with a reduced healthspan, owing to an increased risk of cardiovascular, skeletal, cognitive and ...
Chiara Benedetto, Suvarna S. Khadilkar, Rossella E. Nappi, Andrea R. Genazzani, Federica Frezet, Laura Cucinella, Hema Divakar, Panagiotis Anagnostis, Nick Panay   +8 more
wiley   +1 more source

Utility of prenatal trio whole-exome sequencing and methylation-specific multiplex ligation-dependent probe amplification in the evaluation of fetal growth restriction. [PDF]

Front Med (Lausanne)
Chen Y, Wang M, Cai X, Wu X, Zeng J, Zhou L.   +5 more
europepmc   +1 more source

Minimally Invasive Sampling for Molecular Profiling of Lymph Nodes Using a Modified Acupuncture Needle

iMetaMed, EarlyView.
Schematic illustration of the preparation of His@PDA@Needle, a modified acupuncture needle designed for minimally invasive sampling of lymph node‐derived DNA for molecular profiling. ABSTRACT Current clinical liquid biopsy approaches predominantly rely on blood‐derived biomarkers, which are often limited in sensitivity.
Baiping Cui, Mingyu Li, Pingzhu Zhou, Lihfeng Cheow, Hailong Ma, Dongdong Liu   +5 more
wiley   +1 more source

Pediatric primary ciliary dyskinesia with rare genetic variants: Synonymous RSPH4A and potential NFE2L2 modifier of DNAH9 phenotype - 2-case report. [PDF]

Medicine (Baltimore)
Guo C, Zhu Y, Lu H, Liu K.
europepmc   +1 more source

Ovarian Cancer: Epidemiology, Disease Mechanisms, New Diagnosis and Treatment Strategies, and Research Directions

iNew Medicine, EarlyView.
ABSTRACT Ovarian cancer (OC) continues to be the deadliest gynecological malignancy and a significant cause of cancer‐related mortality among women worldwide. Standard treatment strategies typically entail platinum‐based chemotherapy in conjunction with cytoreductive surgery.
Zunera Khalid, Weirong Fan, Farah Nazir, Yixiang Xing, Tengchuan Jin   +4 more
wiley   +1 more source

Case Report: Identification of a <i>CRYGD</i> variant in a family with congenital cataract. [PDF]

Front Med (Lausanne)
Deng J, Ma J, Li Y, Wang W, Ma C, Li M, Jiang Y, Zhang H.   +7 more
europepmc   +1 more source

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source

Possibilities and Limitations for Conducting Wastewater and Environmental Surveillance in Refugee Camps Worldwide. [PDF]

Am J Public Health
Shackelford BB, Berendes D, Handzel T, Schweitzer R, Murphy J, Chigwechokha P, Chauma A, Holm RH.   +7 more
europepmc   +1 more source