Results 71 to 80 of about 4,096,588 (418)

Implementation of non-invasive prenatal testing by semiconductor sequencing in a genetic laboratory [PDF]

, 2016
Objectives: To implement non-invasive prenatal testing (NIPT) for fetal aneuploidies with semiconductor sequencing in an academic cytogenomic laboratory and to evaluate the first 15-month experience on clinical samples.
De Smet, Matthias, Dheedene, Annelies, Grisart, Bernard, Janssens, Sandra, Menten, Björn, Sante, Tom, Vanbellinghen, Jean-François, Vergult, Sarah   +7 more
core   +2 more sources

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome

Basic and Clinical Neuroscience, 2020
Introduction: Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. Methods: We applied WES for a patient presenting 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and ...
Mina Zamani, Tahereh Seifi, Jawaher Zeighami, Neda Mazaheri, Emad Jahangirnezhad, Minoo Gholamzadeh, Alireza Sedaghat, Gholamreza Shariati, Hamid Galehdari   +8 more
doaj  

Psychological Effect of Prenatal Diagnosis of Cleft Lip and Palate: A Systematic Review

Contemporary Clinical Dentistry, 2018
Introduction and Background: Cleft lip and/or palate is the most common congenital craniofacial anomaly. Prenatal diagnosis of the craniofacial anomalies is possible with the advent of newer imaging modalities.
Sreejith Vp, V. Arun, Anooj P. Devarajan, A. Gopinath, M. Sunil   +4 more
semanticscholar   +1 more source

Analysis of the Longitudinal Behavior of Serum Levels of Soluble Flt1 and Placental Growth Factor in Pregnant Patients With Systemic Lupus Erythematosus

Arthritis Care &Research, EarlyView.
Objective This study analyzed longitudinal trajectories of soluble Flt1 (sFlt1) levels, placenta growth factor (PlGF) levels, and sFlt1:PlGF ratios in a cohort of pregnant patients with systemic lupus erythematosus (SLE). Methods Blood samples were collected (14–18, 24–26, 30–32, 34–36, and 38–40 weeks), stored at −80°C, and evaluated for serum levels ...
Nilson R. de Jesús, Guilherme R. de Jesús, Marcela I. Lacerda, Flávia C. dos Santos, Jeane de S Nogueira, Luiz Cristóvão Porto, Evandro S. F. Coutinho, Evandro M. Klumb   +7 more
wiley   +1 more source

Chromosome Segmentation Analysis Using Image Processing Techniques and Autoencoders [PDF]

arXiv, 2022
Chromosome analysis and identification from metaphase images is a critical part of cytogenetics based medical diagnosis. It is mainly used for identifying constitutional, prenatal and acquired abnormalities in the diagnosis of genetic diseases and disorders.
arxiv  

Murine Models and Human Cell Line Models to Study Altered Dynamics of Ovarian Follicles in Polycystic Ovary Syndrome

Advanced Biology, EarlyView.
The manuscript examines preclinical murine and human models to study polycystic ovary syndrome (PCOS), delving into the cellular and molecular mechanisms underlying altered ovarian follicular dynamics. It explores the cellular interactions involved in normal and PCOS ovaries and outlines the current and novel strategies in the search for preclinical ...
Arturo Bevilacqua, Cristiano Giuliani, Giovanna Di Emidio, Samuel H Myers, Vittorio Unfer, Carla Tatone   +5 more
wiley   +1 more source

Non‐invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies by relative haplotype dosage†

Prenatal Diagnosis, 2016
Development of an accurate and affordable test for the non‐invasive prenatal diagnosis of Duchenne and Becker muscular dystrophies (DMD/BMD) to implement in clinical practice.
Michael Parks, S. Court, S. Cleary, S. Clokie, J. Hewitt, Denise Williams, T. Cole, F. Macdonald, M. Griffiths, S. Allen   +9 more
semanticscholar   +1 more source

Prenatal screening, ethics and Down's Syndrome: a Literature review [PDF]

, 2001
This article reviews the literature on prenatal screening for Down's syndrome. To be evidence based, medicine and nursing have to take account of research evidence and also of how this evidence is processed through the influence of prevailing social and ...
Alderson, Priscilla
core   +2 more sources

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

Advanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He, Min Yu, Yuhua Jiao, Yizhu Xu, Xuqin Liang, Wenbin Huang, Linping Xu, Yuxia Hou, Zhanping Ren, Beile Lyu, Zhenwei Qian, Pengpeng Liu, Jing Zhou, Huimei Huang, Chunyan Yin, Huaxiang Zhao, Yi Ding   +16 more
wiley   +1 more source