Categoría: Articulos
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Trapping cancer-driving DNA rings outside cell nucleus silences their genes, researchers find
Cells from rapidly growing, highly metastatic tumors often contain numerous rings of extrachromosomal DNA (ecDNA). This circular DNA frequently carries oncogenes—genes that promote cancer. Researchers have long sought vulnerabilities in these DNA rings…
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Autonomic dysfunction profiling of Malan syndrome using Pediatric Autonomic Symptom Scales
Background Results Conclusions
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Dual impact of uniparental disomy in imprinting and recessive disorders: a case of UPD(15) with unexpected inheritance and literature review
STRENGTHS AND LIMITATIONS OF THIS STUDYUniparental disomy can cause both imprinting disorders and recessive diseases in the same patient.We report here the first case of Tay-Sachs disease transmitted via heterodisomy from a homozygous mother.Trio analy…
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UK consensus recommendations for onward testing for Lynch syndrome in patients with deficient mismatch repair (dMMR) non-colorectal/non-endometrial cancers
WHAT IS ALREADY KNOWN ON THIS TOPICMismatch repair deficiency (dMMR), with evidence of microsatellite instability (MSI), is a hallmark of cancers occurring due to Lynch syndrome. Clear pathways exist for investigation of dMMR endometrial/colorectal can…
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Dual impact of uniparental disomy in imprinting and recessive disorders: a case of UPD(15) with unexpected inheritance and literature review
STRENGTHS AND LIMITATIONS OF THIS STUDYUniparental disomy can cause both imprinting disorders and recessive diseases in the same patient.We report here the first case of Tay-Sachs disease transmitted via heterodisomy from a homozygous mother.Trio analy…
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UK consensus recommendations for onward testing for Lynch syndrome in patients with deficient mismatch repair (dMMR) non-colorectal/non-endometrial cancers
WHAT IS ALREADY KNOWN ON THIS TOPICMismatch repair deficiency (dMMR), with evidence of microsatellite instability (MSI), is a hallmark of cancers occurring due to Lynch syndrome. Clear pathways exist for investigation of dMMR endometrial/colorectal can…
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Refinement of the UKCGG/CanVIG framework for triage of putative germline variants identified via tumour and ctDNA sequencing: maximising clinical utility and harmonising gene and variant-restricted reporting across UK clinical practice
WHAT IS ALREADY KNOWN ON THIS TOPICAnalysis of tumour (including circulating tumour) DNA may identify variants of possible germline origin, but determining which findings warrant germline follow-up is challenging.WHAT THIS STUDY ADDSWe present a framew…
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Deletion size and background genetic variation shape congenital heart disease phenotypes in 3016 individuals with 22q11.2 deletion syndrome
WHAT IS ALREADY KNOWN ON THIS TOPICChromosome 22q11.2 deletion syndrome (22q11.2DS) is a rare genetic disorder associated with serious medical challenges. Most affected individuals have congenital heart disease but with variable phenotypic expression. …
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Refinement of the UKCGG/CanVIG framework for triage of putative germline variants identified via tumour and ctDNA sequencing: maximising clinical utility and harmonising gene and variant-restricted reporting across UK clinical practice
WHAT IS ALREADY KNOWN ON THIS TOPICAnalysis of tumour (including circulating tumour) DNA may identify variants of possible germline origin, but determining which findings warrant germline follow-up is challenging.WHAT THIS STUDY ADDSWe present a framew…
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Deletion size and background genetic variation shape congenital heart disease phenotypes in 3016 individuals with 22q11.2 deletion syndrome
WHAT IS ALREADY KNOWN ON THIS TOPICChromosome 22q11.2 deletion syndrome (22q11.2DS) is a rare genetic disorder associated with serious medical challenges. Most affected individuals have congenital heart disease but with variable phenotypic expression. …