Results 61 to 70 of about 4,251,743 (354)

The Safety Appliance Act and the FELA: A Plea for Clarification [PDF]

, 1953
The aim of this thesis is to analyse and examine the debate on prenatal testing in Western countries, with a special focus on my own country, Sweden. In the near future it might be possible for a pregnant woman to profile the DNA of her foetus with a ...
Louisell, David W., Anderson, Kenneth M.
core   +1 more source

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

Genetics in Medicine, 2018
Unexpected fetal abnormalities occur in 2–5% of pregnancies. While traditional cytogenetic and microarray approaches achieve diagnosis in around 40% of cases, lack of diagnosis in others impedes parental counseling, informed decision making, and ...
N. Chandler, Sunayna Best, Jane D. Hayward, F. Faravelli, S. Mansour, E. Kivuva, Dagmar Tapon, Alison M. Male, C. Devile, L. Chitty   +9 more
semanticscholar   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

Molecular Cytogenetics, 2018
Background This study aimed to evaluate the applicability of chromosomal microarray analysis (CMA), rather than traditional chromosome analysis, in prenatal diagnosis of ventricular septal defects (VSDs) for superior prenatal genetic counseling and to ...
Meiying Cai, Hailong Huang, Linjuan Su, Na Lin, Xiaoqing Wu, Xiaorui Xie, Gang An, Ying Li, Yuan Lin, Liangpu Xu, Hua Cao   +10 more
doaj   +1 more source

Nomogram for predicting the risk of preterm birth in women undergoing in vitro fertilization cycles

BMC Pregnancy and Childbirth, 2023
Background The aim of this study was to develop a nomogram for predicting the risk of preterm birth in women undergoing in vitro fertilization (IVF) cycles.
Mohan Wang, Mengzhe Hao, Ning Liu, Xiao Yang, Yubin Lu, Ruizhi Liu, Hongguo Zhang   +6 more
doaj   +1 more source

Influence of prenatal diagnosis of abnormally invasive placenta on maternal outcome: systematic review and meta‐analysis

Ultrasound in Obstetrics and Gynecology, 2018
To ascertain the impact of prenatal diagnosis on surgical outcome of women affected by abnormally invasive placenta (AIP).
D. Buca, M. Liberati, G. Calỉ, F. Forlani, C. Caisutti, M. E. Flacco, L. Manzoli, A. Familiari, G. Scambia, F. D'antonio   +9 more
semanticscholar   +1 more source

A Bespoke Programmable Interpenetrating Elastomer Network Composite Laryngeal Stent for Expedited Paediatric Laryngotracheal Reconstruction

Advanced Functional Materials, EarlyView.
A programmable interpenetrating double‐network architecture, created via 3D‐TIPS printing and resin infusion, synergistically combines thermoplastic and thermosetting elastomers to balance structural rigidity and surface softness—crucial for paediatric laryngeal stents.
Elizabeth F. Maughan, Lei Wu, Dong Zhang, Linxiao Wu, Graca Ferreira Vaz Pinto Mendes, Wanqiao J. Tu, Heping Ma, Toby J. Proctor, Colin R. Butler, Thomas Kjærgaard, Mark W. Lowdell, Martin A. Birchall, Robert E. Hynds, Richard Hewitt, Wenhui Song   +14 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  

Parental Substance Abuse As an Early Traumatic Event. Preliminary Findings on Neuropsychological and Personality Functioning in Young Drug Addicts Exposed to Drugs Early. [PDF]

, 2016
open5noParental substance use is a major risk factor for child development, heightening the risk of drug problems in adolescence and young adulthood, and exposing offspring to several types of traumatic events.
Afifi, Aharonovich, Alati, Alati, American Psychiatric Association (APA), American Psychiatric Association (APA), Anda, Bada, Baer, Bailey, Baker, Barnard, Barr, Behnke, Bennett, Best, Bhide, Blagov, Blair, Bornovalova, Brand, Brown, Carmody, Chambers, Chapman, Chassin, Chassin, Chen, Cone, Connor, Cooper, Crean, Cruz, Cyr, Daniel, Day, Day, De Palo, Delaney-Black, Dennis, Derogatis, Derogatis, Dikmen, Edwards, Eiden, Eiden, Eiden, Eiden, El-Sheikh, El-Sheikh, Elkins, Engeland, Enoch, Ersche, European Monitoring Centre for Drugs Drug Addiction (EMCDDA), Evans, Eyler, Fals-Stewart, Farah, Farah, Fishbein, Fisher, Fisher, Ford, Frank, Fried, Giancola, Gibb, Glantz, Goldman, Goldschmidt, Goler, Grant, Griffith, Guttmacher Institute, Hackman, Hans, Hanson, Henry, Hicks, Hinrichs, Hurt, Hurt, Hussong, Hussong, Hussong, Jacobson, Jernigan, Johnston, Jutras-Aswad, Kearney, Kerns, Killinger, Kliewer, Klonoff-Cohen, Kodituwakku, Kokkevi, Konijnenberg, Kopera-Frye, Krueger, Langås, Leech, Lester, Lester, Lewis, Lewis, Li, Lingiardi, Lipina, Mackesy-Amiti, Malone, Marin-Avellan, Mattson, Maurage, May, Mayes, Mayes, McClelland, McGue, McNamee, Melchior, Meyers, Mezzacappa, Minnes, Moilanen, Mondini, Mondini, Morgan, Nigg, Noble, Noble, Noland, Noland, O'Brien, O'Connor, Obot, Olson, Olson, Pears, Posner, Prunas, Putnam, Rao, Rasmussen, Rasmussen, Richardson, Richardson, Riley, Rose-Jacobs, Rose-Jacobs, Rosenkranz, Rubes, Samhsa Office of Applied Studies (SAMHSA), Sarno, Savage, Schmid, Shedler, Shedler, Sheinkopf, Singer, Singer, Smith, Solowij, Stocco, Stone, Strathearn, Tapert, Tapert, Taplin, Tarter, Tarter, Thompson, Tonmyr, van der Kolk, Van Voorst, Vaske, Velez, Verdejo-García, Warner, Warner, Westen, Westen, Westen, Westen, Willford, Willford, Woon, Young   +187 more
core   +2 more sources

Population‐based trends in the prenatal diagnosis of sex chromosome aneuploidy before and after non‐invasive prenatal testing

Prenatal Diagnosis, 2018
To assess the impact of non‐invasive prenatal testing (NIPT) on trends in the prenatal diagnosis of sex chromosome aneuploidy (SCA) in a population with >73,000 annual births.
A. Howard-Bath, A. Poulton, J. Halliday, L. Hui   +3 more
semanticscholar   +1 more source