Chorionic Villus Sampling in the Era of Genomic Medicine: A Gateway to Early and Personalized Prenatal Diagnosis [0.03%]
基因组医学时代的绒毛膜采样：早期个性化产前诊断的途径
Urszula Wysocka,Jolanta Stępniewska,Magdalena Kozłowska et al.
Urszula Wysocka et al.
Purpose: Despite the rapid expansion of noninvasive genomic technologies, invasive procedures such as chorionic villus sampling (CVS) remain indispensable for providing definitive, early prenatal genetic diagnoses. This s...
A Novel Exon Duplication in the SACS Gene in Charlevoix-Saguenay Ataxia and a Summary of Polish Cases [0.03%]
Charlevoix-Saguenay型脊髓小脑性共济失调的SACS基因新突变及波兰病例总结
Jakub P Fichna,Ewelina Elert-Dobkowska,Wiktoria Radziwonik-Fraczyk et al.
Jakub P Fichna et al.
Mutations in the SACS gene are associated with autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), a clinically and genetically heterogeneous neurodegenerative disorder. ARSACS typically manifests as slowly progressive ataxi...
Association of Y Chromosome Microdeletions with Reproductive Profiles in 2010 Infertile Male Patients in China [0.03%]
中国2010年男性不育患者Y染色体微缺失与生育特征相关性研究
Gangxin Chen,Pengyu Huang,Haiyan Li et al.
Gangxin Chen et al.
Objective: To analyze the incidence of different types of Y chromosome microdeletions in infertile male patients in China, and to investigate the relationship between microdeletions in different azoospermia factor (AZF) r...
Partial Monosomy 21q Due to De Novo t(15;21)(q26.3;q22.11): A Case Report with Clinical and Molecular Findings [0.03%]
全新的平衡易位t（15;21）（q26.3;q22.11）导致的21q部分单体综合征的临床和分子特征分析：病例报告
Somayeh Takrim Nojehdeh,Tannaz Fattahi,Sara Arish et al.
Somayeh Takrim Nojehdeh et al.
Background: Partial monosomy of chromosome 21q is a rare genetic disorder characterized by a wide spectrum of clinical manifestations including intellectual disability, developmental delay, and distinctive craniofacial fe...
The Prognostic Value of Integrating Copy Number Alteration Profiles in NPM1-Mutated Acute Myeloid Leukemia: An Exploratory Study [0.03%]
NPM1突变急性髓系白血病整合拷贝数变异谱的预后价值探索性研究
Chunxia Zhang,Li Gao,Ming Gong et al.
Chunxia Zhang et al.
Background: Characteristic genetic events underpin acute myeloid leukemia (AML) heterogeneity and enable precise risk stratification. However, prognostic assessment remains ambiguous in many patients due to inadequate int...
Stepwise Diagnostic Strategy Integrating Long-Read Sequencing for the Interpretation of Phenotype-Genotype Discordance in Dystrophinopathy [0.03%]
整合长读序列表型基因分型不一致的杜氏肌营养不良症诊断策略
Qingyue Yuan,Chang Liu,Yanyu Lu et al.
Qingyue Yuan et al.
Introduction: Pathogenic variants in the DMD gene maintaining the open reading frame typically cause Becker muscular dystrophy. Here, we report a 7.7-year-old boy exhibiting a severe Duchenne muscular dystrophy phenotype,...
The Masked Thalassemia: A Rare Case of a Patient with Normal HbA2 Levels, β-Thalassemia Pathogenic Variant (CD39 C>T), and a Novel δ-Globin Gene Deletion [0.03%]
掩藏的海洋性贫血：一例血红蛋白A2水平正常、β-珠蛋白生成障碍性贫血致病突变（CD39 C>T）及新型δ-球蛋白基因缺失患者的罕见病例报告
Massimiliano Chetta,Annamaria Salamandra,Marina Tarsitano et al.
Massimiliano Chetta et al.
Thalassemia is a group of inherited blood disorders caused by defects in hemoglobin production, the protein that transports oxygen in red blood cells. These diseases are characterized by either diminished or missing production of one of the...
Non-Invasive Prenatal Testing in the Kingdom of Saudi Arabia: Current Status of Adoption and Roadmap for the Future [0.03%]
沙特阿拉伯非侵入性产前检测的现状及未来规划路径分析
Majid Alfadhel,Amal AlHashem,Wesam Kurdi et al.
Majid Alfadhel et al.
Background: Non-invasive prenatal testing (NIPT) has emerged as a significant advancement in prenatal screening that offers safer and more accurate detection of chromosomal abnormalities compared to conventional methods. ...
Intragenic TTN Deletions in a Single Family with Dilated Cardiomyopathy [0.03%]
一个家族扩张型心肌病的TTN基因内缺失突变分析
Marketa Wayhelova,Petra Peldova,Alice Krebsova et al.
Marketa Wayhelova et al.
The TTN gene (MIM:188840) encodes titin, the largest human protein with exclusive expression in the cardiac and skeletal muscles. Rare variants disrupting the TTN gene are frequent causes of dilated cardiomyopathy and several forms of skele...
Familial 3M Syndrome - as an Example of Diagnostic Difficulties in Rare Genetic Syndromes [0.03%]
家族性3M综合征——罕见遗传性综合征诊断困难的例子
Magdalena Pasińska,Joanna M Rusecka,Agnieszka Sobczyńska-Tomaszewska et al.
Magdalena Pasińska et al.
Introduction: A lack of experience diagnosing and treating rare diseases contributes to delayed or incorrect diagnoses, and optimal clinical treatment is often unachievable. Miller-McKusick-Malvaux syndrome (3M syndrome, ...