Results 71 to 80 of about 3,229,696 (385)

Genetic Counseling and Pedigree in Cardiomyopathies – the Role of the Clinical Geneticist [PDF]

, 2023
Diane Xavier de Ávila, Frank Nunes, Raquel Germer, Ana Flávia Malheiros Torbey   +3 more
openalex   +1 more source

Evidence-Based Genetic Counseling for Psychiatric Disorders: A Road Map.

Cold Spring Harbor Perspectives in Medicine, 2019
Psychiatric disorders, such as schizophrenia, depression, anxiety, and bipolar disorder, are common conditions that arise as a result of complex and heterogeneous combinations of genetic and environmental factors.
J. Austin
semanticscholar   +1 more source

The role of histone modifications in transcription regulation upon DNA damage

FEBS Letters, EarlyView.
This review discusses the critical role of histone modifications in regulating gene expression during the DNA damage response (DDR). By modulating chromatin structure and recruiting repair factors, these post‐translational modifications fine‐tune transcriptional programmes to maintain genomic stability.
Angelina Job Kolady, Siyao Wang
wiley   +1 more source

Universal screening of colorectal tumors for lynch syndrome: a survey of patient experiences and opinions

Hereditary Cancer in Clinical Practice
Background Lynch syndrome represents the most common hereditary cause of both colorectal and endometrial cancer. It is caused by defects in mismatch repair genes, as well as EPCAM. Universal screening of colon tumors for Lynch syndrome via microsatellite
Alexander T. Petterson, Jennifer Garbarini, Maria J. Baker   +2 more
doaj   +1 more source

Examining the impact of genetic testing for type 2 diabetes on health behaviors: study protocol for a randomized controlled trial

Trials, 2012
Background We describe the study design, procedures, and development of the risk counseling protocol used in a randomized controlled trial to evaluate the impact of genetic testing for diabetes mellitus (DM) on psychological, health behavior, and ...
Voils Corrine I, Coffman Cynthia J, Edelman David, Maciejewski Matthew L, Grubber Janet M, Sadeghpour Azita, Cho Alex, McKenzie Jamiyla, Blanpain Francoise, Scheuner Maren, Sandelowski Margarete, Gallagher M, Ginsburg Geoffrey S, Yancy William S   +13 more
doaj   +1 more source

Attitudes Toward Updated Genetic Testing Among Patients with Unexplained Mismatch Repair Deficiency [PDF]

, 2018
Individuals who have colorectal cancer (CRC) or endometrial cancer (EC) displaying loss of immunohistochemical (IHC) staining of one or more mismatch repair (MMR) proteins without a causative germline mutation are said to have unexplained mismatch repair
Omark, Jessica
core   +1 more source

Nicotinamide N‐methyltransferase promotes drug resistance in lung cancer, as revealed by nascent proteomic profiling

Molecular Oncology, EarlyView.
AZD9291 has shown promise in targeted cancer therapy but is limited by resistance. In this study, we employed metabolic labeling and LC–MS/MS to profile time‐resolved nascent protein perturbations, allowing dynamic tracking of drug‐responsive proteins. We demonstrated that increased NNMT expression is associated with drug resistance, highlighting NNMT ...
Zhanwu Hou, Zhen Wang, Fei Yang, Xiao Han, Lei Li, Huadong Liu   +5 more
wiley   +1 more source

Painting a portrait: Analysis of national health survey data for cancer genetic counseling

Cancer Medicine, 2019
Background Despite a growing body of literature describing the geographic and sociodemographic distribution of cancer genetic testing, work focused on these domains in cancer genetic counseling is limited.
Monica H. Stamp, Ora K. Gordon, Christopher P. Childers, Kimberly K. Childers   +3 more
doaj   +1 more source

Cáncer hereditario: fundamentos genéticos [PDF]

, 2005
Genetic counseling plays a key role in the BRCA1/BRCA2 and hMLH1/hMSH2/hMSH6 testing process. The initial genetic counselling encounter will determine the appropriateness of the test by collecting a detailed family history and determining the likelihood ...
Caldés, Trinidad
core   +1 more source

A new targeted CFTR mutation panel based on next-generation sequencing technology [PDF]

, 2017
Searching for mutations in the cystic fibrosis transmembrane conductance regulator gene (CFTR) is a key step in the diagnosis of and neonatal and carrier screening for cystic fibrosis (CF), and it has implications for prognosis and personalized therapy ...
Alberti, Luisella, Biffignandi, Alice, Bruno, Sabina Maria, Colombo, Carla, Corbetta, Carlo, Costantino, Lucy, Giannone, Valentina, Lucarelli, Marco, Porcaro, Luigi, Seia, Manuela, Torresani, Erminio   +10 more
core   +2 more sources