Deregulation of CircANXA2, Circ0075001, and CircFBXW7 Gene Expressions and Their Predictive Value in Egyptian Acute Myeloid Leukemia Patients [0.03%]
急性髓系白血病患者中CircANXA2，Circ0075001和CircFBXW7基因表达的异常及其预后价值研究
Safaa I Tayel,Shimaa E Soliman,Iman A Ahmedy et al.
Safaa I Tayel et al.
Background: Acute myeloid leukemia (AML) is of heterogeneous pathogenesis and caused by alterations of multiple genes. CircRNAs act as oncogenes or tumor suppressors in numerous tumors and could be novel diagnostic and pr...
A Novel POGZ Variant in a Patient with Intellectual Disability and Obesity [0.03%]
智力障碍和肥胖患者中的新型POGZ变异体
Sebastian Giraldo-Ocampo,Rafael Adrian Pacheco-Orozco,Harry Pachajoa
Sebastian Giraldo-Ocampo
White-Sutton syndrome is a rare type of autosomal dominant neurodevelopmental disorder caused by mutations, mostly de novo, in the POGZ gene. No more than 120 patients have been described so far in the literature. Common clinical manifestat...
Evaluating the Association Between Genetic Polymorphisms Related to Homocysteine Metabolism and Unexplained Recurrent Pregnancy Loss in Women [0.03%]
评估同型半胱氨酸代谢相关基因多态性与女性不明原因反复妊娠丢失关联的研究
Nhat Nguyen Ngoc,My Tran Ngoc Thao,Sang Trieu Tien et al.
Nhat Nguyen Ngoc et al.
Objective: To investigate the relationship between unexplained recurrent pregnancy loss (URPL) and polymorphisms of homocysteine metabolism-related genes in women. ...
Prominent Mutation of Intron 22 Inversion in Sporadic Hemophilia: Is It Worth the Antenatal Screening? [0.03%]
单独遗传的血友病患者第22号内含子倒位突变常见，但产前筛查有必要吗？
Werasak Sasanakul,Ampaiwan Chuansumrit,Nongnuch Sirachainan et al.
Werasak Sasanakul et al.
Background: Adequate replacement for patients with hemophilia is costly, especially in countries with limited resources. Objective: Fac...
Molecular Genetic Screening of Neonatal Intensive Care Units: Hyperbilirubinemia as an Example [0.03%]
新生儿重症监护病房的分子基因筛查：黄疸为例
Yuqi Yang,Yu Wang,Lingna Zhou et al.
Yuqi Yang et al.
Objective: To explore the clinical value of newborn genomic screening (nGS) for neonatal intensive care units (NICU) infants (taking neonatal hyperbilirubinemia as an example). ...
Clinical Importance of aCGH in Genetic Counselling of Children with Psychomotor Retardation [0.03%]
儿童心理运动发育迟缓遗传咨询中aCGH的临床意义
Magdalena Pasińska,Ewelina Łazarczyk,Anna Repczyńska et al.
Magdalena Pasińska et al.
Introduction: The X and Y chromosomes are responsible for the determination and differentiation of the gonads, and their numerical and structural abnormalities may cause the abnormal development of secondary sex character...
CTLA-4 CT-60 A/G and CTLA-4 1822 C/T Gene Polymorphisms in Indonesians with Type 1 Diabetes Mellitus [0.03%]
印尼Ⅰ型糖尿病患者的CTLA-4 CT-60 A/G和CTLA-4 1822 C/T基因多态性研究
Nur Rochmah,Muhammad Faizi,Suhasta Nova et al.
Nur Rochmah et al.
Introduction: CTLA-4 gene polymorphism plays an important role in children with type 1 diabetes mellitus (T1DM). However, data on this subject vary among different races and ethnics. ...
HLA-DQA1 and HLA-DQB1 Gene Polymorphism in Indonesian Children with Type I Diabetes Mellitus [0.03%]
印度尼西亚Ⅰ型糖尿病患儿HLA-DQA1和DQB1基因多态性分析
Soetjipto,Nur Rochmah,Muhammad Faizi et al.
Soetjipto et al.
Background: More than 40 genes influence the progression of type 1 diabetes mellitus (T1DM), including human leukocyte antigen (HLA) alleles. Different HLA genotype patterns result in diverse rates of T1DM development. HL...
Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome [0.03%]
CDC6基因新复合杂合突变导致的梅耶-戈尔林综合症患者案例报道
Viktoriia Zabnenkova,Olga Shchagina,Olga Makienko et al.
Viktoriia Zabnenkova et al.
Background: Meier-Gorlin syndrome (MGS) is a rare genetic syndrome inherited in an autosomal dominant or autosomal recessive manner. The disorder is characterized by bilateral microtia, absence or hypoplasia of the patell...
First Two Case Reports of Becker's Type Myotonia Congenita in Colombia: Clinical and Genetic Features [0.03%]
哥伦比亚Becker型先天性肌强直首两例报告：临床及基因特点
Jorge Andres Olave-Rodriguez,Francisco Javier Bonilla-Escobar,Estephania Candelo et al.
Jorge Andres Olave-Rodriguez et al.
Background: Becker's type myotonia congenita is an autosomal recessive nondystrophic skeletal muscle disorder characterized by muscle stiffness and the inability of muscle relaxation after voluntary contraction. It is cau...