UKCGG leaflets and guidelines - Cancer Genetics Group
Click on the links to download the UKCGG guidelines for the management of carriers of pathogenic germline variants in RAD51C and RAD51D.
FH heterozygotes (carriers) are at increased risk of renal cancer, cutaneous leiomyomata and early onset multiple uterine leiomyomas (fibroids). There is a strong association with Type 2 …
Abundancy of polymorphic CGG repeats in the human genome ... - Nature
2021年1月28日 · Expanded CGG-repeats have been linked to neurodevelopmental and neurodegenerative disorders, including the fragile X syndrome and fragile X-associated …
Atypical HUS Associated with CFH/CFHR-1 Hybrid Gene - PMC
Atypical hemolytic uremic syndrome is a rare form of thrombotic microangiopathy caused by complement pathogenic variants. We describe a case of a 33-year-old woman who presented …
Ethanol consumption inhibits T FH cell responses and the …
2020年4月24日 · Here we show that alcohol and its metabolite acetate alter the functional state of T follicular helper (T FH) cells in vitro and in vivo, thereby exerting immune regulatory and …
Secondary structural choice of DNA and RNA associated with CGG…
2021年4月14日 · In the current study, we investigate the secondary structural choice of CCG and CGG repeats from the perspective of addressing the molecular basis of FXTAS by employing …
Genetic and functional analyses of FH mutations in multiple …
2003年6月1日 · Germline mutations of the fumarate hydratase (FH, fumarase) gene are found in the recessive FH deficiency syndrome and in dominantly inherited susceptibility to multiple …
Fragile X 101 | About Premutation Carriers - National Fragile X …
Females with a premutation are at risk to have a child, male or female, with Fragile X syndrome. The magnitude of this risk is related to the number of CGG repeats identified in her FMR1 …
Is FMR1 CGG Repeat Number Polymorphism Associated With Phenotypic ...
2021年8月11日 · The present study evaluated the genotype-phenotype associations of CGG repeat number and IQ, college graduation, age at menopause, number of biological children, …
CGG是什么意思？ - 百度知道
2024年6月9日 · CGG主要属于Business领域，适用于Toronto Stock Exchange等场景。 这个缩写词主要用于商业交流和信息传递，其应用示例如在股票市场中引用。 CGG的中文解释详细说 …