Results 31 to 40 of about 13,071 (247)
Human Genomics, 2021 Background Genetic variation databases provide invaluable information on the presence and frequency of genetic variants in the ‘untargeted’ human population, aggregated with the primary goal to facilitate the interpretation of clinically important ...
Vladimir Avramović +3 more
doaj +1 more source
Somatic mosaicism in adult‐onset TNF receptor‐associated periodic syndrome (TRAPS)
Molecular Genetics & Genomic Medicine, 2019 Background Somatic mosaicism is to date an uncommon finding in genetic autoinflammatory syndromes such as Cryopyrin‐associated periodic syndrome, Blau syndrome, and TNF receptor‐associated periodic syndrome (TRAPS).
Apostolos Kontzias +6 more
doaj +1 more source
Mosaic Intronic NIPBL Variant in a Family With Cornelia de Lange Syndrome
Frontiers in Genetics, 2018 Cornelia de Lange Syndrome (CdLS) is a well described multiple malformation syndrome caused by alterations in genes encoding subunits or regulators of the cohesin complex.
Natalia Krawczynska +9 more
doaj +1 more source
Somatic mutations in neurodegeneration: An update
Neurobiology of Disease, 2020 Mosaicism, the presence of genomic differences between cells due to post-zygotic somatic mutations, is widespread in the human body, including within the brain.
Christos Proukakis
doaj +1 more source
Reversion Mosaicism in Primary Immunodeficiency Diseases
Frontiers in Immunology, 2021 Reversion mosaicism has been reported in an increasing number of genetic disorders including primary immunodeficiency diseases. Several mechanisms can mediate somatic reversion of inherited mutations.
Hanae Miyazawa, Taizo Wada
doaj +1 more source
Frontiers in PediatricsIntroductionKnowledge about mosaicism in cryopyrin-associated periodic syndromes (CAPS) has expanded significantly with the use of next generation sequencing technologies.
Sonia Melo Gomes +10 more
doaj +1 more source
The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review
Pediatric Blood &Cancer, EarlyView.ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo +5 more
wiley +1 more source
Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome
Molecular Genetics & Genomic Medicine, 2019 Background Lynch syndrome (LS) is caused by germline mismatch repair (MMR) gene mutations. De novo MMR gene mutations are rare, and somatic mosaicism in LS is thought to be infrequent.
Willemina R. Geurts‐Giele +5 more
doaj +1 more source
The role of somatic mosaicism in brain disease
Current Opinion in Genetics & Development, 2020 In this review we discuss the importance of genetic somatic mosaicism and its impact on brain diseases. We start from introducing the different types of somatic mutations, their frequencies and abundances across development and lifespan. We then describe how weakness in DNA repair mechanisms influences their prevalence.
Alexandre Jourdon +4 more
openaire +3 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider +15 more
wiley +1 more source