Results 31 to 40 of about 55,941 (207)

Spinal Involvement in Charge Syndrome: Implications for Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome (OMIM #214800) is an autosomal dominant disorder caused by mutations in the CHD7 gene in most cases. Although originally defined by the CHARGE acronym (coloboma, heart defects, choanal atresia, growth restriction, genital hypoplasia, and ear anomalies), the recognized phenotype has expanded considerably to include highly ...
Adriana Gomes, Álvaro Martín‐Rodríguez, Miguel del Campo Casanelles, Marilyn C. Jones, Daniela Carvalho, Lynne M. Bird   +5 more
wiley   +1 more source

Trisomy 21 induces pericentrosomal crowding delaying primary ciliogenesis and mouse cerebellar development

eLife, 2023
Trisomy 21, the genetic cause of Down syndrome, disrupts primary cilia formation and function, in part through elevated Pericentrin, a centrosome protein encoded on chromosome 21.
Cayla E Jewett, Bailey L McCurdy, Eileen T O'Toole, Alexander J Stemm-Wolf, Katherine S Given, Carrie H Lin, Valerie Olsen, Whitney Martin, Laura Reinholdt, Joaquín M Espinosa, Kelly D Sullivan, Wendy B Macklin, Rytis Prekeris, Chad G Pearson   +13 more
doaj   +1 more source

Effects of oropharyngeal neuromuscular stimulation on the volumetric enlarged and reduced tongue base in minipigs

The Anatomical Record, EarlyView.
Abstract Hypoglossal nerve or tongue protruding muscle stimulation is a current treatment option for obstructive sleep apnea. Thus, the present study analyzed 3D deformations of the volumetric enlarged and reduced tongue base upon oropharyngeal neuromuscular stimulation.
Sydney Chen, Doris Haydee Rosero Salazar, Zi‐Jun Liu   +2 more
wiley   +1 more source

Lipid peroxidation in Down syndrome caused by regular trisomy 21, trisomy 21 by Robertsonian translocation and mosaic trisomy 21 [PDF]

Clinical Chemical Laboratory Medicine, 2007
It has been suggested that an increase in oxidative stress in individuals with Down syndrome (DS) may cause adverse effects in the cell membranes through the oxidation of polyunsatured fatty acids.We examined erythrocyte malondialdehyde (MDA) levels in 100 individuals of both sexes (34 males and 66 females) with DS, aged from newborn to 29 years.
Casado Moragón, Ángela, López-Fernández, M.E., Ruíz, Rocío   +2 more
openaire   +3 more sources

Clinical and Genetic Factors Associated With Regression in Children With Autism Spectrum Disorders

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a heterogeneous neurodevelopmental condition with complex genetic and environmental underpinnings. A clinically significant subset of children with ASD experience developmental regression (regASD), characterized by the acute loss of previously acquired skills. The mechanisms, predictors, and molecular basis of
Anna Maruani, Emma Delclaud, Paul Bruzeau, Richard Delorme, Anne‐Claude Tabet, Valérie Vantalon, Jonathan Levy, Pierre Ellul   +7 more
wiley   +1 more source

Genetic testing among patients evaluated for epilepsy surgery

Epileptic Disorders, EarlyView.
Abstract Objective Genetic testing performed to identify the underlying etiology of epilepsy has become increasingly common and is now being recommended as part of the presurgical evaluation for epilepsy surgery. This study aimed to characterize the types of genetic tests performed in patients evaluated for epilepsy surgery and assess how genetic ...
Anni Saarela, Veera‐Julia Kuronen, Oskari Timonen, Leena Jutila, Katri Silvennoinen, Annemari Kilpeläinen, Jarkko Kirjavainen, Reetta Kälviäinen   +7 more
wiley   +1 more source

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

Correlation between telomere shortening in maternal peripheral blood and fetal aneuploidy

BMC Pregnancy and Childbirth
Background This study aimed to assess whether maternal telomere length is a more accurate predictor of trisomy 21 than maternal age while also exploring the factors influencing maternal and fetal telomere length.
Xiao-Xi Zhao, Le Le Bai
doaj   +1 more source

Analysis of the intracellular traffic of IgG in the context of Down syndrome (trisomy 21)

Scientific Reports, 2021
Persons with Down syndrome (DS, trisomy 21) have widespread cellular protein trafficking defects. There is a paucity of data describing the intracellular transport of IgG in the context of endosomal-lysosomal alterations linked to trisomy 21.
R. B. Cejas, M. Tamaño-Blanco, J. G. Blanco   +2 more
doaj   +1 more source

Longitudinal AMH trajectories, ovarian reserve recovery, and fertility outcomes after multiagent chemotherapy for high‐risk gestational trophoblastic neoplasia: A real‐world cohort study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To characterize anti‐Müllerian hormone (AMH) recovery after multiagent chemotherapy for high‐risk gestational trophoblastic neoplasia (GTN) and evaluate the impact of regimen and hysterectomy. Methods This was a retrospective cohort of 68 high‐risk GTN patients treated with EMA/CO (etoposide, methotrexate, actinomycin D ...
Wei Xue, Tianyi Chen, Yuxiao Wu, Tong Ren, Jun Zhao, Fengzhi Feng, Xirun Wan, Yang Xiang, Junjun Yang   +8 more
wiley   +1 more source