Hemoglobinopathy screening in primary care in the Netherlands: exploring the problems and needs of patients and general practitioners [0.03%]
荷兰初级保健中的血红蛋白病筛查：探索患者和全科医生的问题和需求
Margo E van Vliet,Jean-Louis H Kerkhoffs,Cornelis L Harteveld et al.
Margo E van Vliet et al.
The prevalence of hemoglobinopathies in The Netherlands is increasing due to migration. Hemoglobinopathies are severe hereditary diseases. An informed reproductive choice by at-risk couples, such as pre-implantation diagnosis or termination...
Alisdair McNeill
Alisdair McNeill
The experiences of UK-based genetic counsellors working in mainstream settings [0.03%]
英国本土遗传咨询师在常规工作环境中的工作经验
Ellie Quinn,Katherine Mazur
Ellie Quinn
Most UK-based genetic counsellors (GCs) work within clinical genetics services; yet there is a small and expanding group of GCs working within other clinical specialties, termed "mainstream" GCs. To our knowledge there have been no projects...
Minors at risk of von Hippel-Lindau disease: 10 years' experience of predictive genetic testing and follow-up adherence [0.03%]
Von Hippel-Lindau病高危未成年人的预测性基因检测及随访依从性（十年回顾）
Roseline Vibert,Khadija Lahlou-Laforêt,Maryam Samadi et al.
Roseline Vibert et al.
Von Hippel-Lindau (VHL) disease is one of the most common cancer predisposition syndromes. Penetrance is high with around 20% of children presenting detectable and curable manifestations of the disease at 15 years old. VHL predictive geneti...
Views of Canadian healthcare professionals on the future uses of non-invasive prenatal testing: a mixed method study [0.03%]
加拿大医疗保健专业人员对未来无创性产前检测使用观点的混合研究
Hazar Haidar,Stanislav Birko,Anne-Marie Laberge et al.
Hazar Haidar et al.
Non-invasive prenatal testing's (NIPT) potential to screen for a wide range of conditions is receiving growing attention. This study explores Canadian healthcare professionals' perceptions towards NIPT's current and possible future uses, in...
Health professionals' views and experiences of the Australian moratorium on genetic testing and life insurance: A qualitative study [0.03%]
澳大利亚人寿保险禁令下遗传检测的相关医疗保健专业人员的观点和经历：定性研究
Grace Dowling,Jane Tiller,Aideen McInerney-Leo et al.
Grace Dowling et al.
Australian life insurance companies can legally use genetic test results in underwriting, which can lead to genetic discrimination. In 2019, the Financial Services Council (Australian life insurance industry governing body) introduced a par...
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant [0.03%]
与FOXF1移码变异反式作用的非编码区域过量超型单核苷酸变异的ACDMPV四代家系中的变异性表达
Esra Yıldız Bölükbaşı,Justyna A Karolak,Przemyslaw Szafranski et al.
Esra Yıldız Bölükbaşı et al.
Heterozygous single nucleotide variants (SNVs) or copy-number variant deletions involving FOXF1 or its distant lung-specific enhancer on chromosome 16q24.1 have been identified in 80-90% of patients with Alveolar capillary dysplasia with mi...
Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge [0.03%]
非整倍体罕见病的无创产前筛查：现有知识概览
Lore Lannoo,Khaila van Straaten,Jeroen Breckpot et al.
Lore Lannoo et al.
Non-invasive prenatal testing has been introduced for the detection of Trisomy 13, 18, and 21. Using genome-wide screening also other "rare" autosomal trisomies (RATs) can be detected with a frequency about half the frequency of the common ...
Intragenic inversions in NF1 gene as pathogenic mechanism in neurofibromatosis type 1 [0.03%]
NF1基因内的 intragenic 倒位在神经纤维瘤病1型中的致病机制作用
Viola Alesi,Francesca Romana Lepri,Maria Lisa Dentici et al.
Viola Alesi et al.
Neurofibromatosis type 1 (NF1), an autosomal dominant disorder characterized by skin pigmentary lesions and multiple cutaneous neurofibromas, is caused by neurofibromin 1 (NF1) loss of function variants. Currently, a molecular diagnosis is ...
Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome [0.03%]
PAX1新表型：显性遗传变异导致眼耳椎综合征
Shannon Carter,Bridget J Fellows,Kate Gibson et al.
Shannon Carter et al.
Oculo-auriculo-vertebral syndrome (OAVS) is a clinically heterogeneous disorder, with both genetic and environmental contributors. Multiple genes have been associated with OAVS and common molecular pathways, such as retinoic acid and the PA...