The efficacy of genetic counselling for familial colorectal cancer. A randomised clinical trial [0.03%]
家族性结直肠癌遗传咨询有效性的随机临床试验
Andrada Ciucă,Tara Clancy,Sebastian Pintea et al.
Andrada Ciucă et al.
Genetic counselling (GC) for familial colorectal cancer (fCRC) has been previously shown to improve outcomes such as emotional distress and screening adherence. This is the first randomised clinical trial to evaluate the efficacy of GC for ...
Advancing towards clear and patient-centred language in cancer genetics [0.03%]
迈向癌症遗传学领域的清晰和以患者为中心的语言
Saar Van Pottelberghe,Frederik J Hes,Maurizio Genuardi
Saar Van Pottelberghe
Language in clinical genetics is never neutral. The terms used to describe genetic concepts, like mutation or variant, sporadic or hereditary, patient or counselee not only shape scientific discourse but also profoundly affect how individua...
Seda S Zonuzi
Seda S Zonuzi
Multiple lesion-specific somatic mutations and bi-allelic loss of ACVRL1 in a single patient with hereditary haemorrhagic telangiectasia [0.03%]
遗传性出血性血管畸形单一患者的多个特异性体细胞突变和ACVRL1双等位基因丢失
Pernille Darre Haahr,Qin Hao,Klaus Brusgaard et al.
Pernille Darre Haahr et al.
Hereditary Haemorrhagic Telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by mucocutaneous telangiectasias and arteriovenous malformations (AVMs) in internal organs. It is mainly caused by heterozygous pathogenic...
Missense variants in homeobox domain of PBX1 cause coracoclavicular ankylosis [0.03%]
PBX1家盒区错义变异导致喙锁关节融合症
Maki Iwai,Kyra E Stuurman,Kirsten Meagher et al.
Maki Iwai et al.
There have been several reports on heterozygous loss of function variants in PBX1 associated with congenital anomalies of the kidney and urinary tract (CAKUT). We report three patients harboring de novo heterozygous missense variants in PBX...