Evaluation of somatic and/or germline mosaicism in congenital malformation of the eye [0.03%]
眼部先天性畸形中的体细胞和(或)生殖细胞嵌合的评估
Bertrand Chesneau,Véronique Ivashchenko,Christophe Habib et al.
Bertrand Chesneau et al.
Microphthalmia, Anophthalmia and Coloboma (MAC) form a spectrum of congenital eye malformations responsible for severe visual impairment. Despite the exploration of hundreds of genes by High-Throughput Sequencing (HTS), most of the patients...
Genome-wide association study of a lipedema phenotype among women in the UK Biobank identifies multiple genetic risk factors [0.03%]
在英国生物银行中对女性的一种液脂肿表型进行全基因组关联研究以识别多种遗传风险因素
Yann C Klimentidis,Zhao Chen,Manuel L Gonzalez-Garay et al.
Yann C Klimentidis et al.
Lipedema is a common disorder characterized by excessive deposition of subcutaneous adipose tissue (SAT) in the legs, hips, and buttocks, mainly occurring in adult women. Although it appears to be heritable, no specific genes have yet been ...
Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy [0.03%]
对意大利中部导致ATTRv的甲状腺素运载蛋白突变Val142Ile高复发性的调查
Francesco Mazzarotto,Alessia Argirò,Mattia Zampieri et al.
Francesco Mazzarotto et al.
The p.Val142Ile variant in transthyretin (encoded by the TTR gene) is the most common genetic cause of transthyretin-related amyloidosis. This allele is particularly prevalent in communities ofAfrican descent compared with populations of di...
A 25 Mainland Chinese cohort of patients with PURA-related neurodevelopmental disorders: clinical delineation and genotype-phenotype correlations [0.03%]
25例中国PURA相关神经发育障碍患者队列：临床特征与基因型-表型相关性研究
Weiqian Dai,Yu Sun,Yanjie Fan et al.
Weiqian Dai et al.
PURA-related neurodevelopmental disorders (PURA-NDDs) include 5q31.3 microdeletion syndrome and PURA syndrome. PURA has been proposed as a candidate gene responsible for 5q31.3 microdeletion syndrome. Phenotype comparisons between patients ...
Is there a "pandemic effect" on individuals' willingness to take genetic tests? [0.03%]
流行病对个人愿意做基因测试有影响吗？
Thibaud Deruelle,Veronika Kalouguina,Philipp Trein et al.
Thibaud Deruelle et al.
In this cross-sectional, semi-longitudinal and quasi-experimental study, our goal was to determine the effect of data storage conditions on willingness to take a genetic test. We compared individuals' preferences regarding how they want to ...
Short stature in PRMT7 Mutations: first evidence of response to growth hormone treatment [0.03%]
PRMT7突变中短身材的第一个生长激素治疗反应证据
Giulia Rodari,Roberta Villa,Matteo Porro et al.
Giulia Rodari et al.
Protein arginine methyltransferase 7 (PRMT7) pathogenetic variants have been associated with the human disorder of Short Stature, Brachydactyly, Intellectual Developmental Disability and Seizures syndrome (SBIDDS). Only 15 cases have been d...
Not putting the cart before the horse: the complex social and ethical terrain of prenatal exome sequencing [0.03%]
不拔苗助长：产前外显子测序复杂的社会和伦理地形
Felicity Boardman,Ruth Horn
Felicity Boardman
Yann Joly,Gratien Dalpe
Yann Joly
Genetic prediction of male pattern baldness based on large independent datasets [0.03%]
基于大量独立数据集的男性型脱发基因预测
Yan Chen,Pirro Hysi,Carlo Maj et al.
Yan Chen et al.
Genetic prediction of male pattern baldness (MPB) is important in science and society. Previous genetic MPB prediction models were limited by sparse marker coverage, small sample size, and/or data dependency in the different analytical step...
Lymphedema as first clinical presentation of Cantu Syndrome: reversed phenotyping after identification of gain-of-function variant in ABCC9 [0.03%]
淋巴水肿作为Cantu综合征的首次临床表现：在ABCC9基因增益功能变异鉴定后的表型逆转
Jian Gao,Conor McClenaghan,Imke Christiaans et al.
Jian Gao et al.
Cantu Syndrome (CS), [OMIM #239850] is characterized by hypertrichosis, osteochondrodysplasia, and cardiomegaly. CS is caused by gain-of-function (GOF) variants in the KCNJ8 or ABCC9 genes that encode pore-forming Kir6.1 and regulatory SUR2...