Publications by authors named "G Johannesdottir"

Although a number of high-risk breast cancer genes have been identified, including and , the risk profile of many high-risk families cannot be explained using known breast cancer genes. Previously, we have shown strong indications of new breast cancer risk loci at chromosomes 2p, 6q, and 14q in a family of six generations including 10 breast cancer cases. In this study, we identified and traced four new family branches descending from siblings of the parents in the top generation of the studied family.

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The European Resuscitation Council (ERC) Paediatric Life Support (PLS) guidelines are based on the 2020 International Consensus on Cardiopulmonary Resuscitation Science with Treatment Recommendations of the International Liaison Committee on Resuscitation (ILCOR). This section provides guidelines on the management of critically ill or injured infants, children and adolescents before, during and after respiratory/cardiac arrest.

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These European Resuscitation Council Paediatric Life Support (PLS) guidelines, are based on the 2020 International Consensus on Cardiopulmonary Resuscitation Science with Treatment Recommendations. This section provides guidelines on the management of critically ill infants and children, before, during and after cardiac arrest.

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Mutations in result in predisposal to breast and ovarian cancers, but many variants exist with unknown clinical significance (VUS). One is c.4096+3A>G, which affects production of the full-length transcript, while augmenting transcripts lacking most or all of exon 11.

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Article Synopsis
  • Several copy number variants have been linked to neuropsychiatric disorders and cognitive abilities, with a focus on the 15q11.2(BP1-BP2) deletion that is tied to learning disabilities and brain structure changes.
  • This study expands the sample size to explore how the 15q11.2 deletion impacts dyslexia and dyscalculia, revealing it heightens the risk of these conditions and is associated with a smaller left fusiform gyrus.
  • Through neuropsychological testing and brain imaging techniques, the research shows that this deletion significantly alters cognitive and neurological processes related to both dyslexia and dyscalculia.
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