Three-Decade Successive Establishment of Care for Women/Girls from Families with Haemophilia [0.03%]
三代人持续关爱血友病家庭中的女性/j女孩门诊的建立与实践
Ampaiwan Chuansumrit,Werasak Sasanakul,Nongnuch Sirachainan et al.
Ampaiwan Chuansumrit et al.
Objective: The study aimed to report a 3-decade successive establishment of care for women/girls from families with haemophilia. Methods: ...
Hanna Moczulska,Michal Pietrusinski,Marcin Serafin et al.
Hanna Moczulska et al.
Objective: Trisomy 13 is one of the most common chromosome aberrations diagnosed in the prenatal period, and is associated with some specific dysmorphic features. Rare chromosome 13 aberrations other than trisomy 13 may c...
Case Report of a Juvenile Patient with Autism Spectrum Disorder with a Novel Combination of Copy Number Variants in ADGRL3 (LPHN3) and Two Pseudogenes [0.03%]
ADGRL3（LPHN3）的新突变及其两个假基因的拷贝数变异联合导致自闭症谱系障碍的病例报告
Martin H Maurer,Anja Kohler,Melanie Hudemann et al.
Martin H Maurer et al.
We report the finding of two copy number variants (CNVs) in a 12-year-old boy presenting both with autism spectrum disorder (ASD) and attention deficit/hyperactivity disorder (ADHD). Clinical features included aggressive behavior, mood inst...
ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy [0.03%]
ABCD1基因突变：肾上腺脊髓神经病的机制和管理
Alyssa M Volmrich,Lauren M Cuénant,Irman Forghani et al.
Alyssa M Volmrich et al.
Pathogenic variants in the ABCD1 gene on the X chromosome may result in widely heterogenous phenotypes, including adrenomyeloneuropathy (AMN). Affected males typically present in their third or fourth decade of life with progressive lower l...
Long Non-Coding RNAs ASB16-AS1 and AFAP1-AS1: Diagnostic, Prognostic Impact and Survival Analysis in Colorectal Cancer [0.03%]
长链非编码RNA ASB16-AS1和AFAP1-AS1：结直肠癌中的诊断、预后价值及生存分析
Naglaa S Elabd,Shimaa E Soliman,Moamena S Elhamouly et al.
Naglaa S Elabd et al.
Background: We aimed to evaluate the diagnostic roles of AFAP1-AS1 and ASB16-AS1 in colorectal cancer and highlight their roles in predicting colorectal cancer patients' prognosis. ...
Utility of Measuring Fetal Cavum Septum Pellucidum (CSP) Width During Routine Obstetrical Ultrasound for Improving Diagnosis of 22q11.2 Deletion Syndrome: A Case-Control Study [0.03%]
测量胎儿透明隔腔宽度对提高22q11.2缺失综合征诊断的 usefulness：病例对照研究
Christy L Pylypjuk,Shiza F Memon,Bernard N Chodirker
Christy L Pylypjuk
Objective: To evaluate the utility of measuring fetal cavum septum pellucidum (CSP) width during routine, mid-pregnancy ultrasound for improving diagnosis of 22q11.2 deletion syndrome amongst fetuses with and without cono...
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...