Results 131 to 140 of about 2,713,146 (243)

Comparison of Medium-Coverage Whole-Genome Sequencing and Chromosomal Microarray in Prenatal Testing of Absence of Heterozygosity. [PDF]

Prenat Diagn
Zhang M, Li J, Ren C, Liu Y, Bian W, Han X, Wang M, Chen X, Hu Y, Kan M, Liu L.   +10 more
europepmc   +1 more source

New insights into epileptic spasm generation and treatment from the TTX animal model

Epilepsia Open, EarlyView.
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann, Carlos J. Ballester‐Rosado, Chih‐Hong Lee   +2 more
wiley   +1 more source

Twenty-Two Years of Prenatal Testing for Suspected Monogenic Disorders: A Retrospective Single-Center Experience in Western Romania. [PDF]

Med Sci (Basel)
Gug M, Andreescu N, Chicea ED, Rațiu A, Farcaș S, Marin I, Țîcău S, Gug C.   +7 more
europepmc   +1 more source

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Chromosomal structural abnormalities and tissue-specific mosaicism: insights into false-negative noninvasive prenatal testing. [PDF]

Front Genet
Huang N, Xu Y, Ding S, Pan L, Zhou P, Zou Y, Feng C, Huang S, Liu Y, Yang B, Yuan H.   +10 more
europepmc   +1 more source

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Diagnostic accuracy of cell-free DNA-based non-invasive prenatal testing for fetal aneuploidies: a systematic review. [PDF]

Front Genet
Alhajlah S.
europepmc   +1 more source

The multiple hit model of infantile and epileptic spasms: The 2025 update

Epilepsia Open, EarlyView.
Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou, Wenzhu B. Mowrey, Wei Liu, Anna Maria Katsarou, Qianyun Li, Oleksii Shandra, Solomon L. Moshé   +6 more
wiley   +1 more source

It's what's expected: genetic testing for inherited conditions, CHERE Discussion Paper No 46 [PDF]

The development of new genetic technology brings with it responsibility for evaluating the effectiveness and efficiency of testing programs, including gaining an understanding of the value of information.
Marion Haas, Richard De Abreu Lourenco, Jane Hall   +2 more
core  

False negativity for trisomy 18 in non-invasive prenatal testing: A case report. [PDF]

Case Rep Womens Health
Andová N, Repiská V, Priščáková P, Gergely L, Hýblová M, Minárik G.   +5 more
europepmc   +1 more source