Results 21 to 30 of about 1,654,437 (300)

Atypical presentation of neuronal ceroid lipofuscinosis type 8 in a sibling pair and review of the eye findings and neurological features. [PDF]

, 2016
Purpose:To report atypical presentation of neuronal ceroid lipofuscinoses type 8 (CLN8) to the eye clinic and review clinical features of CLN8. Observations:Detailed eye exam by slit lamp exam, indirect ophthalmoscopy, fundus photography, optical ...
Collins, Christin D, Mierau, Gary, Richards, Sarah, Sanchez, Rossana L, Shankar, Suma P, Wartchow, Eric P, Yan, Jiong   +6 more
core   +2 more sources

A novel de novo paracentric inversion [inv(20)(q13.1q13.3)] accompanied by an 11q14.3-q21 microdeletion in a pediatric patient with an intellectual disability

Balkan Journal of Medical Genetics, 2018
A novel de novo paracentric inversion of the long arm of chromosome 20 [inv(20)(q13.1q13.3)], detected by conventional karyotyping in a 14-year-old boy with mental retardation is described. Further investigation by array comparative genomic hybridization
Zachaki S, Kouvidi E, Mitrakos A, Lazaros L, Pantou A, Mavrou A, Tzetis M, Manola KN   +7 more
doaj   +1 more source

The new (liberal) eugenics [PDF]

, 2013
Despite the Nazi horrors, in 1953 the new eugenics was founded, when Watson and Crick postulated the double helix of DNA as the basis of chemical heredity.
Jeremy Gibbons, Nicolas Wu, Ralf Hinze
core   +1 more source

Prenatal and postnatal diagnoses and phenotype of 8p23.3p22 duplication in one family

BMC Medical Genomics, 2021
Background Distal 8p duplication is rare but clinically significant. Duplication syndrome results in variable phenotypes, such as developmental delay, intellectual disability, and malformation of the heart.
Panlai Shi, Conghui Wang, Yuting Zheng, Xiangdong Kong   +3 more
doaj   +1 more source

Molecular and Genetic Determinants of Glioma Cell Invasion. [PDF]

, 2017
A diffusely invasive nature is a major obstacle in treating a malignant brain tumor, "diffuse glioma", which prevents neurooncologists from surgically removing the tumor cells even in combination with chemotherapy and radiation.
Kato, Yoichiro, Masui, Kenta, Mischel, Paul S, Sawada, Tatsuo, Shibata, Noriyuki   +4 more
core   +2 more sources

Estimate of genetic variants using CNV‐Seq for fetuses with oligohydramnios or polyhydramnios

Molecular Genetics & Genomic Medicine, 2023
Background Oligohydramnios or polyhydramnios, is associated with chromosomal aberrations, particularly aneuploidy. However, its correlation with copy number variation (CNV) remains unclear.
Panlai Shi, Yaqin Hou, Duo Chen, Huanan Ren, Yanjie Xia, Xiangdong Kong   +5 more
doaj   +1 more source

Association of Low Expression of NUMB in Peripheral Blood with Acute Myocardial Infarction

Cardiology Research and Practice, 2022
Objective. Our study’s goal was to find out acute myocardial infarction (AMI) patients’ NUMB gene expression patterns and to evaluate its role as a diagnostic marker for AMI detection. Methods.
Heyu Meng, Lihong Li, Jianjun Ruan, Yanqiu Chen, Zhaohan Yan, Jinsha Liu, Xiangdong Li, Cuiying Mao, Ping Yang   +8 more
doaj   +1 more source

Impact of metagenomic sequencing on clinical outcomes in patients with suspected central nervous system infections: a retrospective case-control study

Frontiers in Cellular and Infection Microbiology
ObjectivesAlthough the value of metagenomic sequencing (mNGS) in diagnosing pathogens in central nervous system infections (CNSi) has been confirmed, its impact on the clinical outcomes of patients remains to be elucidated.
Wenyan An, Yandong Zhang, Yong Liu, Tianshi Yang, Shiqi Bai, Peiwen Zhou, Junzhuo Si, Yuan Zhao, Yulu He, Yijia Pan, Yanfang Jiang   +10 more
doaj   +1 more source

MiR-135a-5p suppresses trophoblast proliferative, migratory, invasive, and angiogenic activity in the context of unexplained spontaneous abortion

Reproductive Biology and Endocrinology, 2022
Background Spontaneous abortions (SA) is amongst the most common complications associated with pregnancy in humans, and the underlying causes cannot be identified in roughly half of SA cases.
Yebin Lu, Xiaoli Zhang, Xueyu Li, Lingjie Deng, Changqiang Wei, Dongmei Yang, Xuemei Tan, Weicheng Pan, Lihong Pang   +8 more
doaj   +1 more source

Long-Read Sequencing Revealed Extragenic and Intragenic Duplications of Exons 56–61 in DMD in an Asymptomatic Male and a DMD Patient

Frontiers in Genetics, 2022
Expanded carrier screening (ECS) has become an increasingly common technique to assess the genetic risks of individuals in the prenatal or preconception period.
Ying Bai, Ju Liu, Jinghan Xu, Yue Sun, Jingjing Li, Yong Gao, Lina Liu, Cangcang Jia, Xiangdong Kong, Li Wang   +9 more
doaj   +1 more source