Results 161 to 170 of about 199,361 (374)

The application of linkage analysis to genetic counselling in families with Duchenne or Becker muscular dystrophy. [PDF]

open access: bronze, 1987
Shirley Hodgson   +7 more
openalex   +1 more source

Elucidating prognostic significance of purine metabolism in colorectal cancer through integrating data from transcriptomic, immunohistochemical, and single‐cell RNA sequencing analysis

open access: yesMolecular Oncology, EarlyView.
Low expression of five purine metabolism‐related genes (ADSL, APRT, ADCY3, NME3, NME6) was correlated with poor survival in colorectal cancer. Immunohistochemistry analysis showed that low NME3 (early stage) and low ADSL/NME6 (late stage) levels were associated with high risk.
Sungyeon Kim   +8 more
wiley   +1 more source

Predicting the Big Five Personality Traits in Chinese Counselling Dialogues Using Large Language Models [PDF]

open access: yesarXiv
Accurate assessment of personality traits is crucial for effective psycho-counseling, yet traditional methods like self-report questionnaires are time-consuming and biased. This study exams whether Large Language Models (LLMs) can predict the Big Five personality traits directly from counseling dialogues and introduces an innovative framework to ...
arxiv  

Cáncer hereditario: fundamentos genéticos [PDF]

open access: yes, 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

Exploration of heterogeneity and recurrence signatures in hepatocellular carcinoma

open access: yesMolecular Oncology, EarlyView.
This study leveraged public datasets and integrative bioinformatic analysis to dissect malignant cell heterogeneity between relapsed and primary HCC, focusing on intercellular communication, differentiation status, metabolic activity, and transcriptomic profiles.
Wen‐Jing Wu   +15 more
wiley   +1 more source

Structured Dialogue System for Mental Health: An LLM Chatbot Leveraging the PM+ Guidelines [PDF]

open access: yesarXiv
The Structured Dialogue System, referred to as SuDoSys, is an innovative Large Language Model (LLM)-based chatbot designed to provide psychological counseling. SuDoSys leverages the World Health Organization (WHO)'s Problem Management Plus (PM+) guidelines to deliver stage-aware multi-turn dialogues.
arxiv  

Genetic Counseling for Alcohol Use Disorder: Assessment Of Need In Affected And At-Risk Populations [PDF]

open access: yes, 2016
Introduction: Alcohol use disorder (AUD) is highly heritable, yet there has been no investigation regarding the possible benefits of genetic counseling for AUD.
Kalb, Fayth Michelle
core   +1 more source

Germline variants in CDKN2A wild‐type melanoma prone families

open access: yesMolecular Oncology, EarlyView.
Among melanoma‐prone families, wild‐type for CDKN2A and CDK4, some have pathogenic variants in genes not usually linked to melanoma. Furthermore, rare XP‐related variants and variants in MC1R are enriched in such families. Germline pathogenic variants in CDKN2A are well established as an underlying cause of familial malignant melanoma. While pathogenic
Gjertrud T. Iversen   +5 more
wiley   +1 more source

Clinical heterogeneity in a family with flail arm syndrome and review of hnRNPA1‐related spectrum

open access: yesAnnals of Clinical and Translational Neurology, Volume 9, Issue 12, Page 1910-1917, December 2022., 2022
Abstract Objective Flail arm syndrome (FAS) is one of the atypical subtypes of amyotrophic lateral sclerosis (ALS). Mutations in hnRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare genetic cause of ALS. Herein, marked clinical heterogeneity of FAS in a pedigree with a known hnRNPA1 variant was described to raise early ...
Xiaochen Han   +5 more
wiley   +1 more source

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