Results 211 to 220 of about 2,151,922 (308)

Cell-free DNA screening for sex chromosome aneuploidy in 67,099 pregnancies: A retrospective analysis. [PDF]

J Med Screen
Yu Y, Lü Y, Zhou X, Jiang Y, Hao N, Li M, Yang X, Liu J, Qi Q.   +8 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

Epigenetic Clock Analysis of Sex Chromosome Aneuploidies. [PDF]

Aging Cell
Zhang J, Teoli J, Rey B, Vieira C, Lemaitre JF, Plotton I, Marais GAB, Horvath S.   +7 more
europepmc   +1 more source

Effectiveness and safety of cannabidiol in adult patients with epilepsy: A multicenter, retrospective study

Epilepsia Open, EarlyView.
Abstract Objective Cannabidiol (CBD) has demonstrated promising effectiveness and tolerability as adjunctive treatment in patients with severe childhood epilepsies. This study investigated the effectiveness and tolerability of CBD in adults with a history of Dravet syndrome (DS), Lennox–Gastaut syndrome (LGS), or tuberous sclerosis complex (TSC ...
Sara Sánchez‐Gamino, María Isabel Chamorro Muñoz, Pedro J. Serrano‐Castro, Pablo Hernández‐Vitorique, Lucía Rodríguez Jiménez, Yolanda López Moreno, Pablo Cabezudo‐García, Guillermina García Martín   +7 more
wiley   +1 more source

Sex chromosome pairing and multivalent associations during meiosis in diploid and polyploid Silene latifolia. [PDF]

Plant Physiol
Bačovský V, Novotná P, Phillips D, Horáková L, Kružlicová J, Čížková J, Janoušek B, Čegan R.   +7 more
europepmc   +1 more source

Reversal of refractory epilepsy in an adult with GAMT deficiency: A case report and comparative literature review

Epilepsia Open, EarlyView.
Abstract Objective Guanidinoacetate methyltransferase (GAMT) deficiency is a rare autosomal recessive creatine biosynthesis disorder. Reports specifically focusing on adult patients remain scarce. Methods We report a 52‐year‐old female (the oldest documented case of GAMT deficiency to date) presenting with severe intellectual disability, refractory ...
Wei‐Hung Sung, Hsi Chen, Che‐Wei Hsu, Meng‐Han Tsai   +3 more
wiley   +1 more source

Gonadal Sex and Sex-Chromosome Complement Interact to Affect Ethanol Consumption in Adolescent Four Core Genotypes Mice. [PDF]

Brain Sci
Jentsch JD, Aarde SM, Bagley JR.
europepmc   +1 more source

Neonatal‐onset developmental and epileptic encephalopathy: High genetic yield and long‐term outcomes in a multicenter southern European cohort

Epilepsia Open, EarlyView.
Abstract Objective To determine the genetic diagnostic yield, characterize the clinical and genetic landscape, and evaluate long‐term epilepsy, neurodevelopmental, and survival outcomes in a strictly defined cohort of neonatal‐onset developmental and epileptic encephalopathy (DEE).
Júlia Sala‐Coromina, Anna Marcé‐Grau, Gianluca D'Onofrio, Antonella Riva, Roser Pons, Elisabeta Kollia E, Miquel Raspall‐Chaure, Eduardo López‐Laso, Javier López‐Pisón, Edgard Verdura, Agatha Schlüter, Dolors Casellas‐Vidal, Maria Camós‐Carreras, Michele Iacomino, Alberto Spalice, Pasquale Parisi, Alejandro Martínez de la Ossa‐Vela, Mónica Vicente‐Rasoamalala, Aurora Pujol, Vincenzo Salpietro, Pasquale Striano, Alfons Macaya   +21 more
wiley   +1 more source

Clinical Utility of Prenatal cfDNA Screening for Sex Chromosome Aneuploidies: A Single Center Experience. [PDF]

Mol Genet Genomic Med
Lin Y, Lu Q, Wu Y, Li H, Feng H, Luo C, Hu P, Liang D, Xu Z.   +8 more
europepmc   +1 more source

Detection of sex chromosome-specific DNA sequences by polymerase chain reaction using hair DNA in cattle. [PDF]

J Reprod Dev
Hamano T, Kanazawa T, Takahashi T.
europepmc   +1 more source