Results 131 to 140 of about 114,077 (305)

Movement Disorders Associated with 22q11.2 Microdeletion: A Scoping Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Movement disorders have recently emerged as important neurologic manifestations of the 22q11.2 microdeletion that affects nearly one in every 2000 live births. Objective We aimed to map the existing evidence regarding the spectrum, diagnosis and treatment, and etiopathogenesis of movement disorders associated with 22q11.2 ...
Nikolai Gil D. Reyes, Daniel G. Di Luca, Connie Marras, Erik Boot, Ryan K.C. Yuen, Anthony E. Lang, Anne S. Bassett   +6 more
wiley   +1 more source

Genetic Analysis of a Mosaic Fra(16)(q22)/Del(16)(q22) Karyotype in a Primary Infertile Woman

International Journal of Women's Health
Guiyuan He,1,* Xi Wang,1,* Beiqing Li,1 Lei Wang,1 Jing Zhang,2 Yang Shi,1 Wenxiu Zhu,1 Ming Shi1,3 1Centre for Reproductive and Genetic Medicine, Dalian Women and Children’s Medical Group, Dalian, People’s Republic of China; 2Department of ...
He G, Wang X, Li B, Wang L, Zhang J, Shi Y, Zhu W, Shi M   +7 more
doaj  

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Tocilizumab attenuates choroidal neovascularization by regulating macrophage polarization through the IL-6R/STAT3/VEGF pathway

Heliyon
Globally, age-related macular degeneration (AMD) is the leading cause of irreversible visual impairment. Up to 80% of severe vision loss is caused by AMD, which is characterized by the development of choroidal neovascularization (CNV). Uncertainty exists
Yuanyuan Tu, Yang Guo, Haotian Sun, Yuting Zhang, Qiaoyun Wang, Yiqian Xu, Laiqing Xie, Manhui Zhu   +7 more
doaj   +1 more source

Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how foetal sequencing services are delivered, we developed a survey that focussed on the scope of testing, any parallel testing ...
Natalie J. Chandler, Zandra C. Deans
wiley   +1 more source

A Potential Method to Help Predict Genetic Diseases and Arrange Healthcare: Copy Number Variation Analysis

Erciyes Medical Journal, 2019
Munis Dündar, Saide Betül Arslan
doaj   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

Prenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews   +6 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source