Results 91 to 100 of about 111,518 (268)

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Discovery of Cell-Free Fetal DNA in Maternal Blood and Development of Noninvasive Prenatal Testing: 2022 Lasker-DeBakey Clinical Medical Research Award.

Journal of the American Medical Association (JAMA), 2022
In this Viewpoint, 2022 Lasker-DeBakey Clinical Medical Research Award winner Y. M. Dennis Lo discusses his discovery and application of cell-free fetal DNA for noninvasive prenatal testing.
Y. Lo
semanticscholar   +1 more source

Trabecular bone ontogeny of the human talus

The Anatomical Record, EarlyView.
Abstract Studies of trabecular ontogeny may provide insight into the factors that drive healthy bone development. There is a growing understanding of how the juvenile skeleton responds to these influences; however, gaps in our knowledge remain. This study aims to identify ontogenetic trabecular patterns and regional changes during development within ...
Rebecca A. G. Reid, Catriona Davies, Craig Cunningham   +2 more
wiley   +1 more source

Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations

Frontiers in Genetics, 2022
Noninvasive prenatal testing (NIPT) for monogenic disorders has been developed in recent years; however, there are still significant technical and analytical challenges for clinical use.
W. Lv, L. Liang, Xin Chen, Zhuo Li, D. Liang, Huimin Zhu, Y. Teng, Weijuan Wu, Lingqian Wu, L. Han   +9 more
semanticscholar   +1 more source

Noninvasive Prenatal Testing and Detection of Maternal Cancer [PDF]

JAMA, 2015
Noninvasive prenatal testing (NIPT) to detect fetal aneuploidy (an abnormal number of chromosomes) usingmassive parallel sequencing of cell-free DNA (cfDNA) from maternal blood is gaining rapid acceptance in obstetrics, given its high sensitivity and specificity for the detection of trisomies 21, 18, and 13.
Roberto, Romero, Maurice J, Mahoney
openaire   +2 more sources

Concordance analysis between noninvasive prenatal testing (NIPT) and prenatal karyotyping for detecting fetal aneuploidies

Revista de la Facultad de Medicina, 2023
Introduction: Noninvasive prenatal testing (NIPT) is a screening test for fetal aneuploidy with higher specificity and sensibility rates compared to traditional biochemical prenatal screening. Objective: To evaluate concordance between NIPT and prenatal
Diana Carolina Grajales-Ospina, Luz Karime Yunis-Hazbun, Andrés Mauricio Camacho-Montaño, Alejandro Antonio Bautista-Charry, Reinaldo Niño-Alba, Juan José Yunis   +5 more
doaj   +1 more source

External cephalic version outcomes with tocolysis and sedation: A 10‐year retrospective cohort study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To evaluate the effectiveness and safety of external cephalic version (ECV) performed with tocolysis and sedation or spinal anesthesia, and to identify predictors of ECV success, complications, and delivery outcomes after successful ECV. Methods This 10‐year cohort study included 990 pregnant women with term non‐cephalic presentation
Javier Sánchez‐Romero, Rosa María Gallego‐Pozuelo, José Eliseo Blanco‐Carnero, Javier Herrera‐Giménez, Fernando Araico‐Rodríguez, Alberto Rafael Guijarro‐Campillo, Aníbal Nieto‐Díaz, Catalina de Paco‐Matallana   +7 more
wiley   +1 more source

Effect of non-invasive prenatal testing as a contingent approach on the indications for invasive prenatal diagnosis and prenatal detection rate of Down's syndrome [PDF]

, 2016
published_or_final_versio
Chan, KY, Kan, SYA, Kou, KOT, Kwok, SL, Leung, KY, Poon, CF, Tang, MHY   +6 more
core   +1 more source

Unexpected Challenges in Noninvasive Prenatal Testing

Clinical Chemistry, 2015
The clinical paradigm for prenatal screening for fetal chromosome aneuploidies has been transformed by the introduction of noninvasive prenatal testing (NIPT). NIPT sequences cell-free DNA from maternal plasma, which contains a mixture of small maternal DNA fragments as well as placental DNA fragments that serve as a fetal surrogate.
openaire   +2 more sources