Performance of cell free DNA as a screening tool based on the results of first trimester screening [0.03%]
基于早期筛查结果的细胞游离DNA筛查价值评估
Mahtab Motevasselian,Mohammad Amin Omrani,Soraya Saleh Gargari et al.
Mahtab Motevasselian et al.
The advent of non-invasive prenatal testing (NIPT) in the screening of fetal abnormalities has optimized prenatal care and decreased the rate of invasive diagnostic tests. In this retrospective descriptive study, we began with 1874 singleto...
Application of third-generation sequencing technology in the genetic testing of thalassemia [0.03%]
第三代测序技术在地中海贫血基因检测中的应用
Weihao Li,Yanchou Ye
Weihao Li
Thalassemia is an autosomal recessive genetic disorder and a common form of Hemoglobinopathy. It is classified into α-thalassemia and β-thalassemia. This disease is mainly prevalent in tropical and subtropical regions, including southern ...
Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications [0.03%]
新发18号环状染色体患者的临床和基因组特征案例报告：着重于自身免疫和神经系统的含义
Annalaura Montanari,Paola Caforio,Annalisa Paparella et al.
Annalaura Montanari et al.
Ring chromosome 18 (r(18)) is a rare chromosomal abnormality characterized by the circular rearrangement of chromosome 18, which presents significant challenges in genotype-phenotype correlations due to variability in deletions across the 1...
Interstitial 11q deletion in a patient with Sprengel's deformity: a case report and review of the literature [0.03%]
染色体11q缺失合并Sprengel畸形一例报告及文献复习
Dhekra Ismail,Lilia Kraoua,Sylvie Jaillard et al.
Dhekra Ismail et al.
Background: Interstitial chromosome 11 long arm deletions (11q13-q23) represent a rare cytogenetic abnormality characterized by non-specific clinical features including intellectual disability and several malformations wi...
Correction: Insights into avian molecular cytogenetics-with reptilian comparisons [0.03%]
关于鸟类分子细胞遗传学的见解——与爬行动物比较（ corrections ）
Darren K Griffin,Rafael Kretschmer,Kornsorn Srikulnath et al.
Darren K Griffin et al.
Published Erratum
Molecular cytogenetics. 2024 Nov 22;17(1):29. DOI:10.1186/s13039-024-00699-9 2024
Precision oncology platforms: practical strategies for genomic database utilization in cancer treatment [0.03%]
精准肿瘤学平台：癌症治疗中实用的基因组数据库利用策略
Antonia A Gazola,William Lautert-Dutra,Leticia Frohlich Archangelo et al.
Antonia A Gazola et al.
In recent years, the expansion of molecularly targeted cancer therapies has significantly advanced precision oncology. Parallel developments in next-generation sequencing (NGS) technologies have also improved precision oncology applications...
False-positive XXY results by interphase FISH in cytogenetically normal XX individuals: two cases highlighting the necessity of additional laboratory follow-up [0.03%]
染色体正常的XX女性细胞采用荧光原位杂交技术误诊为性染色体结构异常的两例报告及实验室后续追踪分析的重要性
Qiliang Ding,Abigail L Bronson,Kyna A Byerly et al.
Qiliang Ding et al.
Background: Interphase fluorescence in situ hybridization (FISH) is commonly used for rapid aneuploidy detection in clinical settings. While FISH-based aneuploidy detection provides rapid results desirable for patient man...
Copy number variation heterogeneity reveals biological inconsistency in hierarchical cancer classifications [0.03%]
拷贝数变异的异质性揭示了癌症分层分类法中的生物学不一致性
Ziying Yang,Paula Carrio-Cordo,Michael Baudis
Ziying Yang
Cancers are heterogeneous diseases with unifying features of abnormal and consuming cell growth, where the deregulation of normal cellular functions is initiated by the accumulation of genomic mutations in cells of - potentially - any organ...
Insights into avian molecular cytogenetics-with reptilian comparisons [0.03%]
鸟类分子细胞遗传学的研究进展及与爬行类的比较
Darren K Griffin,Rafael Kretschmer,Kornsorn Srikulnath et al.
Darren K Griffin et al.
In last 100 years or so, much information has been accumulated on avian karyology, genetics, physiology, biochemistry and evolution. The chicken genome project generated genomic resources used in comparative studies, elucidating fundamental...
Detection of regions of homozygosity in an unusual case of frontonasal dysplasia [0.03%]
frontal鼻前部区域的同源性检测的一个特殊病例的前额鼻畸形
César Paz-Y-Miño,Ramón Miguel Vargas-Vera,Martha Verónica Placencia-Ibadango et al.
César Paz-Y-Miño et al.
We present the case of a 7-year-old Ecuadorian mestizo girl with multiple orofacial malformations. The patient is the product of a first-degree relationship (father-daughter). A cytogenetic study revealed a normal karyotype. The genetic map...