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Jornal de Pediatria, 2008 The objective of this review of genetic counseling (GC) is to describe the current concepts and philosophical and ethical principles accepted by the great majority of countries and recommended by the World Health Organization, the stages of the process, its results and the psychological impact that a genetic disease has on a family.The concepts ...
openaire +2 more sources
FEBS Letters, EarlyView.Enteropathogenic E. coli (EPEC) infects the human intestinal epithelium, resulting in severe illness and diarrhoea. In this study, we compared the infection of cancer‐derived cell lines with human organoid‐derived models of the small intestine. We observed a delayed in attachment, inflammation and cell death on primary cells, indicating that host ...
Mastura Neyazi +5 more
wiley +1 more source
Plasmodium falciparum gametogenesis essential protein 1 (GEP1) is a transmission‐blocking target
FEBS Letters, EarlyView.This study shows Plasmodium falciparum GEP1 is vital for activating sexual stages of malarial parasites even independently of a mosquito factor. Knockout parasites completely fail gamete formation even when a phosphodiesterase inhibitor is added. Two single‐nucleotide polymorphisms (V241L and S263P) are found in 12%–20% of field samples.
Frederik Huppertz +5 more
wiley +1 more source
Barriers to the implementation of epilepsy genetic testing and counseling guidelines
Epilepsia OpenObjective In 2022, the National Society of Genetic Counselors (NSGC) published a practice guideline for genetic testing and counseling for unexplained epilepsy.
Sophie Melly +4 more
doaj +1 more source
Direct-to-consumer genetic testing: where and how does genetic counseling fit? [PDF]
, 2017 Direct-to-consumer genetic testing for disease ranges from well-validated diagnostic and predictive tests to ‘research’ results conferring increased risks.
Anna Middleton +8 more
core +1 more source
FEBS Letters, EarlyView.Atovaquone is an antimalarial requiring potentiation for sufficient efficacy. We pursued strategies to enhance its activity, showing that 4‐nitrobenzoate inhibits 4‐hydroxybenzoate polyprenyltransferase, decreasing ubiquinone biosynthesis. Since atovaquone competes with ubiquinol in mitochondria, 4‐nitrobenzoate facilitates its action, potentiating ...
Ignasi Bofill Verdaguer +7 more
wiley +1 more source
Clinical and electromyographic criteria for the diagnosis of hereditary myotonic syndromes
Нервно-мышечные болезни, 2015 Hereditary myotonic syndromes (HMS) are a group of genetically heterogeneous diseases of the chlorine and sodium ion channels (channelopathies) with evident clinical polymorphism and high prevalence in the population.
V. P. Fedotov +4 more
doaj +1 more source
EXAMINING THE RELATIONSHIP BETWEEN GENETIC COUNSELORS’ IMPLICIT ATTITUDES TOWARD DISABILITY AND THEIR PRACTICE METHODS [PDF]
, 2018 Genetic counselors serve as a link between the medical community and the disability community as they are regularly the first exposure families have following a new diagnosis in a pregnancy, infant or child.
Gould, Helen W
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From genetic counseling to “genomic counseling” [PDF]
Molecular Genetics & Genomic Medicine, 2013 Genetic counseling is “the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.” Traditionally, this process includes collecting and interpreting the family and medical history, risk assessment, a comprehensive educational process for potential genetic testing ...
openaire +2 more sources
Organoids in pediatric cancer research
FEBS Letters, EarlyView.Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley +1 more source