Results 61 to 70 of about 81,827 (263)

Genetic testing for familial epilepsies: Diagnostic yield and genetic findings

Epilepsia, EarlyView.
Abstract Objective Genetic testing has become a routine part of clinical epilepsy care. Family history is an indication for genetic testing, but the diagnostic yield, predictors of a genetic diagnosis, and association with familial patterns are not well understood.
Colin A. Ellis, Juliette Copeland, Isabella Velez, Karen L. Oliver, Hannah Shalaby, Aaron Baldwin, Caren Armstrong, Amanda Back, Brianna Berlin, Stacey Cohen, Vishnu Anand Cuddapah, Danielle deCampo, Holly Dubbs, Natalie Ginn, Alicia G. Harrison, Naomi Lewin, Laina Lusk, Eric D. Marsh, Shavonne L. Massey, Pamela Pojomovsky McDonnell, Jillian L. McKee, Xilma Ortiz‐Gonzalez, Anna J. Prentice, Katie Rose Sullivan, Sarah M. Ruggiero, Mark P. Fitzgerald, Ethan M. Goldberg, Ingo Helbig   +27 more
wiley   +1 more source

Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. [PDF]

, 2015
BackgroundNoninvasive prenatal screening (NIPS) by next-generation sequencing of cell-free DNA (cfDNA) in maternal plasma is used to screen for common aneuploidies such as trisomy 21 in high risk pregnancies.
Chu, Tianjiao, Clemens, Michelle, Peters, David G, Rajkovic, Aleksandar, Saller, Devereux N, Yatsenko, Svetlana A   +5 more
core   +2 more sources

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Transcriptional consequences of trisomy 21 on neural induction

Frontiers in Cellular Neuroscience
IntroductionDown syndrome, caused by trisomy 21, is a complex developmental disorder associated with intellectual disability and reduced growth of multiple organs. Structural pathologies are present at birth, reflecting embryonic origins.
José L. Martinez, José L. Martinez, Jennifer G. Piciw, Jennifer G. Piciw, Jennifer G. Piciw, Madeline Crockett, Isabella A. Sorci, Nikunj Makwana, Carissa L. Sirois, Yathindar Giffin-Rao, Anita Bhattacharyya, Anita Bhattacharyya   +11 more
doaj   +1 more source

Pregnancy Outcomes and Postnatal Health From Transferred Mosaic Embryos Following Preimplantation Genetic Testing for Aneuploidy

iNew Medicine, EarlyView.
This illustration synthesizes the methods and conclusion of this study, demonstrating that the transfer of mosaic embryos following reimplantation genetic testing for aneuploidy does not increase the risk to postnatal health. ABSTRACT Next‐generation sequencing (NGS) has increased the detection of mosaic embryos during preimplantation genetic testing ...
Lili Chen, Dehuan Huang, Jingcheng Sang, Yiqi Yin, Caiyun Wu, Yan Hao, Dawei Chen, Zhiguo Zhang, Yunxia Cao, Ri‐Cheng Chian, Ping Zhou   +10 more
wiley   +1 more source

A Cross-sectional Study on Molecular Cartography: The Mapping of Down Syndrome with Cytogenetic Tools [PDF]

National Journal of Laboratory Medicine
Introduction: Down Syndrome (DS), or trisomy 21, is the most common genetic cause of intellectual disability among children, with an incidence of 1 in 700 births.
A Deepa, K Chandramouleeswari, M Dougul Regis   +2 more
doaj   +1 more source

Quiet a Puzzle: A Case Report of 15 year Old Female with Severe Anemia Due To Scurvy [PDF]

, 2020
Scurvy is historically thought of a disease affecting sailors in the seventeenth century. Vitamin C deficiency is rare in the developed world. It is mainly found in patients with poor nutrition and specifically those with developmental delay.
Alqahtani, Shaikha, Zhihong, Wang
core   +1 more source

A Female Patient with Down Syndrome and Low-Penetrance Leber's Hereditary Optic Neuropathy. [PDF]

, 2014
We present the case of a 19-year-old female with a history of Down syndrome (DS) who was referred to our neuro-ophthalmology clinic for evaluation of Leber's hereditary optic neuropathy (LHON).
Frousiakis, Starleen E, Karanjia, Rustum, Pouw, Andrew E, Sadun, Alfredo A   +3 more
core   +3 more sources

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

Journal of Clinical Ultrasound, EarlyView.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe, Laura Sarno, Elena Mantovani, Daniele Di Mascio, Valentina D'Ambrosio, Tiziana Fanelli, Ilaria Fantasia, Gian Piero Minnella, Paola Quaresima, Enrico Corno, Andrea Dall'Asta, on behalf of the SIEOGiovani Committee of the Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG)   +11 more
wiley   +1 more source

Trisomy 21

Pediatrics in Review
Citation: 'trisomy 21' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.11325 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms.
openaire   +3 more sources