Reclassification of Whole Exome Sequencing-derived Genetic Variants in Pendred Syndrome with ACMG/AMP Standards [0.03%]
应用ACMG／AMP标准重新分类全外显子测序衍生的 Pendred 综合征遗传变异
Kok-Siong Poon,Karen Mei-Ling Tan
Kok-Siong Poon
Pure Interstitial 7q21.3-q 31.1 Duplication: A Rare Segmental Genomic Aneuploidy: Case Report and Review of Cases with Distal and Similar Segment Involved [0.03%]
罕见的染色体节段异常增删病例如7号染色体远端21.3-31.1带重复纯间质病例报告及相似片段包含病例综述
Alessandra Di Nora,Germana Lena,Andrea Giugno et al.
Alessandra Di Nora et al.
In children with developmental delay (DD) and neurologic impairment, diagnosis can be challenging because of the wide spectrum of causes. Since the last decade, the use of array comparative genomic hybridization (CGH) offered a great contri...
Thara Tunthanathip,Surasak Sangkhathat,Kanet Kanjanapradit
Thara Tunthanathip
Background Malignant transformation (MT) of low-grade gliomas changes dramatically the natural history to poor prognosis. Currently, factors associated with MT of gliomas have been inconclusive, in particular, diffuse astrocytoma (DA). Obje...
Darja Kanduc
Darja Kanduc
Infectious diseases pose two main compelling issues. First, the identification of the molecular factors that allow chronic infections, that is, the often completely asymptomatic coexistence of infectious agents with the human host. Second, ...
The Role of Visfatin (Adipocytokine) Biomarker in Oral Health and Diseases among Nonobese Indian Population: A Proteomic Assay [0.03%]
印度非肥胖人群口腔健康与疾病中视 fatin（脂肪细胞因子）生物标志物的作用：一种蛋白质组学测定方法
Amita Coutinho,Neethu Reddy,Anirban Chatterjee et al.
Amita Coutinho et al.
Visfatin is an adipocytokine and a potential biomarker encoded by the nicotinamide phosphoribosyltransferase gene. It belongs to the nicotinic acid phosphoribosyltransferase family and involved in various metabolic processes and aging. The ...
Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia [0.03%]
FGFR3基因G380R致病突变导致的软骨发育不全患儿出现精神运动迟滞
Mahmut C Ergoren,Erdal Eren,Elena Manara et al.
Mahmut C Ergoren et al.
Achondroplasia (ACH) is a hereditary disorder of dwarfism that is caused by the aberrant proliferation and differentiation of chondrocyte growth plates. The common findings of macrocephaly and facial anomalies accompany dwarfism in these pa...
Evaluation of Serum Immunoglobulins (IgG, IgA, IgM) and Circulating Immune Complexes in Oral Precancer and Cancer Patients [0.03%]
口腔癌前病变和癌症患者血清免疫球蛋白(IgG、IgA、IgM)和循环免疫复合物的检测及评估
Pooja Madki,Mandya Lakshman Avinash Tejasvi,Geetha Paramkusam et al.
Pooja Madki et al.
Objectives The aim of the present study is to evaluate the role of immunoglobulins (IgA, IgG, and IgM) and circulating immune complexes (CIC) as tumor marker in oral cancer and precancer patients. Materials and Methods The present study was...
Zhaojun Jing,Zhibin Chen,Yong Jiang
Zhaojun Jing
Dentin sialophosphoprotein ( DSPP ) gene mutations cause autosomal dominantly inherited diseases. DSPP gene mutations lead to abnormal expression of DSPP, resulting in a series of histological, morphological, and clinical abnormalities. A l...
Concise Update on Genomics of COVID-19: Approach to Its latest Mutations, Escalated Contagiousness, and Vaccine Resistance [0.03%]
COVID-19基因组学简报：应对最新突变、传染性增强和疫苗抗性
Amir Khodavirdipour,Sarvin Jabbari,Fariba Keramat et al.
Amir Khodavirdipour et al.
The novel coronavirus disease 2019 (COVID-19) that started to invade the world from the Chinese fish market, causes an acute respiratory distress syndrome. COVID-19 is a dreadful infectious disease that surfaced only less than 8 months ago ...