Results 121 to 130 of about 126,489 (248)

Restrained Eating Features and Brain Morphology: A Pediatric Population‐Based Study

International Journal of Eating Disorders, EarlyView.
ABSTRACT Objective Anorexia nervosa, a restrictive eating disorder that is most commonly seen in females, is associated with alterations in gray matter (GM) and white matter (WM) structures. However, little is known about how restrained eating (RE) and the body mass index‐standard deviation score (BMI‐SDS) are related to brain morphology and whether ...
C. P. M. Steegers, M. E. J. Deen, P. W. Jansen, T. White, K. F. M. Bracké, M. H. J. Hillegers, G. C. Dieleman   +6 more
wiley   +1 more source

Prenatal phenotypes and pregnancy outcomes of fetuses with 16p11.2 microdeletion/microduplication

BMC Pregnancy and Childbirth
Background Chromosomal 16p11.2 deletions and duplications are genomic disorders which are characterized by neurobehavioral abnormalities, obesity, congenital abnormalities.
Fagui Yue, Mengzhe Hao, Dandan Jiang, Ruizhi Liu, Hongguo Zhang   +4 more
doaj   +1 more source

Molecular basis and prenatal diagnosis of beta-thalassemia [PDF]

, 1988
HH Jr Kazazian, C D Boehm
openalex   +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

Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies

Epilepsia Open, EarlyView.
Abstract Objective Genetic testing is now included in the diagnostic assessment of childhood onset epilepsies. We evaluated the yield of a targeted next generation sequencing (TNGS) panel dedicated to pediatric epilepsies. Methods We tested by TNGS panel 1000 consecutive patients presenting with childhood onset epilepsies and including mainly patients ...
Giulia Barcia, Nicole Chemaly, Stéphanie Gobin‐Limballe, Emma Losito, Mélodie Aubart, Eugénie Sarda, Zahra Assouline, Pauline Plante‐Bordeneuve, Marie Hully, Remi Barrois, Christine Barnerias, Doxa Sareidaki, Delphine Coste Zeitoun, Monika Eisermann, Cécile Fourrage, Sylvain Hanein, Marlène Rio, Nathalie Boddaert, Isabelle Desguerre, Anna Kaminska, Julie Steffann, Rima Nabbout   +21 more
wiley   +1 more source

Ketogenic diet therapy for epilepsy during pregnancy and lactation: An international survey exploring clinician perspectives

Epilepsia Open, EarlyView.
Abstract Objective Ketogenic diet therapies (KDTs) are increasingly used as a treatment for people with epilepsy of childbearing potential (PWECP) and glucose transporter type 1 deficiency syndrome (Glut1DS). The aim of this study was to collect information on clinical experience with KDT during pregnancy and lactation in these populations.
Kelly Faltersack, Tanya J. W. McDonald, Valentina De Giorgis, Bobbie Barron, Mackenzie C. Cervenka, Anita Devlin, Laura A. Healy, Magnhild Kverneland, Elles van der Louw, Mengyang Lu, Martina P. Zanaboni, Marisa Armeno, Elizabeth A. Felton   +12 more
wiley   +1 more source

Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe. [PDF]

, 1985
Marcus Pembrey, Julie M. Old, James V. Leonard, Charles H. Rodeck, Robin M. Warren, K E Davies   +5 more
openalex   +1 more source

Dynamic electro‐clinical features in Guanidinoacetate N‐methyltransferase deficiency: A familial case series

Epilepsia Open, EarlyView.
Abstract Guanidinoacetate N‐methyltransferase deficiency is an inborn error of creatine metabolism, responsible for the absent conversion of guanidinoacetic acid into creatine, resulting in cerebral creatine deficit. It could present a variety of symptoms such as neurodevelopmental delay, epilepsy, movement disorder (ataxia, dystonia, and chorea), and ...
Mariapaola Schifino, Emanuele Bartolini, Stefano Pagano, Camilla Meossi, Rosa Pasquariello, Roberta Battini   +5 more
wiley   +1 more source

Prenatal diagnosis of inv(X)(q12q28) in a male fetus. [PDF]

, 1988
RichardL. Neu, Herb Brar, Brian J. Koos
openalex   +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