Epigenomic insights and computational advances in hematologic malignancies [0.03%]
血液系统恶性肿瘤的表观基因组学见解和计算进步
Carolyn Lauzon-Young,Ananilia Silva,Bekim Sadikovic
Carolyn Lauzon-Young
Hematologic malignancies (HMs) encompass a diverse spectrum of cancers originating from the blood, bone marrow, and lymphatic systems, with myeloid malignancies representing a significant and complex subset. This review provides a focused a...
Prenatal diagnosis and molecular cytogenetic analyses of a rare 15q21.3 and 16p11.2 microduplication family [0.03%]
染色体微缺失微重复综合症家系的产前诊断及分子细胞遗传学分析
Fei Zhang,Gaoqi Liao,Xin Wen et al.
Fei Zhang et al.
Background: Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Microduplication of 15q21.3 is rare and is associated with an increased risk of developmental retardation, corpus...
Genomic landscape of childhood acute lymphoblastic leukemia in Malaysia: insights from array-CGH [0.03%]
马来西亚儿童急性淋巴细胞白血病的基因组景观：来自阵列CGH的见解
Azli Ismail,Fadly Ahid,Wong Nyuk Moi et al.
Azli Ismail et al.
Background: Acute lymphoblastic leukemia (ALL) is the most common childhood cancer, comprising approximately 25% of pediatric malignancies. Notably, chromosomal aberrations and genetic alterations play a central role in t...
Machine learning-based identification of telomere-related gene signatures for prognosis and immunotherapy response in hepatocellular carcinoma [0.03%]
基于机器学习的肝细胞癌预后和免疫治疗反应的端粒相关基因标记识别
Zhengmei Lu,Xiaowei Chai,Shibo Li
Zhengmei Lu
Telomere in cancers shows a main impact on maintaining chromosomal stability and unlimited proliferative capacity of tumor cells to promote cancer development and progression. So, we targeted to detect telomere-related genes(TRGs) in hepato...
Novel MSH6 exon 5-6 skipping variant in a Taiwanese family with Lynch syndrome: implications for genetic testing and cancer management [0.03%]
台湾林奇综合症家族中MSH6外显子5-6跳过变异的新发现：对基因检测和癌症管理的意义
Ting-Yao Wang,Chao-Yu Chen,Huei-Chieh Chuang et al.
Ting-Yao Wang et al.
Lynch syndrome is an autosomal dominant disorder predisposing individuals to colorectal and other cancers, primarily caused by variants in mismatch repair genes. This study describes a novel MSH6 variant affecting transcript structure in a ...
Whole genome uniparental isodisomy detected using single nucleotide polymorphism (SNP) microarray in molar pregnancy: a case report [0.03%]
单核苷酸多态性(SNP)微阵列在摩勒妊娠中检测到全基因组单亲同二倍体：一项病例报告
Onyinye O Okonkwo,Veronica Ortega,Sheila Kane et al.
Onyinye O Okonkwo et al.
Background: Gestational trophoblastic neoplasms consist of complete and partial hydatidiform moles, both of which are considered aberrant conceptuses. Both conditions, complete hydatidiform mole (CHM) and partial hydatidi...
Prevalence of CNVs on the X chromosome in patients with neurodevelopmental disorders [0.03%]
神经发育障碍患者X染色体中CNVs的频率研究
Ekaterina N Tolmacheva,Anna A Kashevarova,Elizaveta A Fonova et al.
Ekaterina N Tolmacheva et al.
Background: The X chromosome is enriched with genes related to brain development, and the hemizygous state of these genes in men causes some difficulties in the clinical interpretation of copy number variations (CNVs). In...
Preparing high-quality chromosome spreads from Crocus species for karyotyping and FISH [0.03%]
用于核型和FISH分析的番红花属植物高质量染色体涂片的制备
Abdullah El-Nagish,Susan Liedtke,Sarah Breitenbach et al.
Abdullah El-Nagish et al.
Background: The saffron-producing Crocus sativus (L.) and its wild relative C. cartwrightianus (Herb.) are key species for understanding genetic evolution in this genus. Molecular-cytogenetic methods, especially fluoresce...
Sole trisomy 6 an uncommon finding in pediatric acute myeloid leukemia, probably associated to bad prognosis [0.03%]
儿童急性髓系白血病中罕见的6号染色体单一三倍体，可能预后不良
Sinhue Alejandro Brukman-Jimenez,Lucina Bobadilla-Morales,Jorge Román Corona-Rivera et al.
Sinhue Alejandro Brukman-Jimenez et al.
Background: Acute leukemias represent the main malignancies occurring among children under the age of 15 years. Around 17% corresponds to acute myeloid leukemia (AML). The cytogenetic analysis of bone marrow complements t...
Phenotypic and genotypic insights into concurrent tertiary trisomy for 9p and 18p [0.03%]
关于9号和18号染色体短臂三级三体型的表型和基因型研究新见解
Carter A Wright,Angela E Scheuerle,Kathleen Wilson et al.
Carter A Wright et al.
Background: Carriers of balanced reciprocal translocation are usually phenotypically normal; however, they have an increased risk of producing gametes with chromosomal imbalance through different types of meiotic segregat...