Results 71 to 80 of about 207,733 (353)
Cáncer hereditario: fundamentos genéticos [PDF]
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
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“[She] said : ‘take the test’ and I took the test”. Relational work as a framework to approach directiveness in prenatal screening of Chinese clients in Hong Kong [PDF]
In this paper we apply the framework of relational work, or the work individuals invest in maintaining their relationships (Locher and Watts 2005), to the analysis of prenatal screening (PS) for Down Syndrome of Chinese clients in Hong Kong.
Schnurr, Stephanie, Zayts, Olga
core +1 more source
Exploration of heterogeneity and recurrence signatures in hepatocellular carcinoma
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
Pre- and post-testing counseling considerations for the provision of expanded carrier screening : exploration of European geneticists’ views [PDF]
Background: Carrier screening is generally performed with the aim of identifying healthy couples at risk of having a child affected with a monogenic disorder to provide them with reproductive options.
Borry, Pascal+4 more
core +3 more sources
There is an unmet need in metastatic breast cancer patients to monitor therapy response in real time. In this study, we show how a noninvasive and affordable strategy based on sequencing of plasma samples with longitudinal tracking of tumour fraction paired with a statistical model provides valuable information on treatment response in advance of the ...
Emma J. Beddowes+20 more
wiley +1 more source
• Background: In this article, we report a non consanguineous normal couple that had a history of one abortion and a death of 3 years old daughter. • Case report: After genetic counseling and drawing the familial pedigree, we found that man's mother had ...
Nayereh Nouri+2 more
doaj
Inherited hemolytic disorders with high occurrence of b-thalassemia in Sindhi community of Jabalpur town in Madhya Pradesh, India [PDF]
Hereditary hemolytic disorders such as hemoglobin disorders, β-thalassemia syndrome, G6PD deficiency, and ABO and Rhesus blood groups are the most common public health problems in India.
Balgir, RS
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Loss of the frequently mutated chromatin remodeler ARID1A, a subunit of the SWI/SNF cBAF complex, results in less open chromatin, alternative splicing, and the failure to stop cells from progressing through the cell cycle after DNA damage in bladder (cancer) cells. Created in BioRender. Epigenetic regulators, such as the SWI/SNF complex, with important
Rebecca M. Schlösser+11 more
wiley +1 more source