Results 61 to 70 of about 15,137 (146)

Caenorhabditis elegans as an in vivo model system for human inherited primary arrhythmia syndromes

The Journal of Physiology, EarlyView.
Abstract figure legend Most genes involved in inherited primary arrhythmia syndromes (IPAS) are conserved in Caenorhabditis elegans, where genetic manipulation enables functional characterization of variants, identification of regulatory proteins, and in vivo drug testing.
Antoine Delinière, Thomas Boulin, Maëlle Jospin, Alexandre Janin, Gilles Millat, Philippe Chevalier, Olga Andrini   +6 more
wiley   +1 more source

From Prevention to Healthy Longevity: Evaluating the Multi‐Systemic Effects of Physical Activity and Lifestyle Behaviours in Women

Reproductive, Female and Child Health, Volume 5, Issue 4, December 2026.
ABSTRACT Purpose Despite spending more on healthcare than any other high‐income nation, the United States faces comparatively poor life expectancy outcomes, primarily due to non‐compliance with preventable and modifiable lifestyle behaviours. This review evaluates the multi‐systemic benefits of physical activity, exercise, diet, weight management and ...
Darah Dilmaghani, Mary Collins, Gloria A. Bachmann   +2 more
wiley   +1 more source

Aesthetic and functional management of a patient with Cornelia de Lange syndrome

Contemporary Clinical Dentistry, 2012
Cornelia de Lange syndrome is a syndrome of multiple congenital anomalies. The genetic and molecular bases of these lesions are not clear. It is divided into three types based on the severity of the anomaly.
Dexton Antony Johns, Dnyanesh L Bhonsale, V Y Shivashanker, Manu Johns   +3 more
doaj   +1 more source

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 11, Page 2547-2552, November 2026.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

Cornelia de Lange syndrome – a rarely seen disorder

South African Journal of Obstetrics and Gynaecology, 2015
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder of unknown causation, associated with multiple congenital anomalies. Prenatal genetic diagnosis is possible, and the syndrome can occur in subsequent pregnancies of families with affected ...
Yasemin Çekmez, Nilay PiÅŸinpaÅŸa, Tülay Tos   +2 more
doaj   +1 more source

Dravet Syndrome: A Primer for Behavior Analysts

Behavioral Interventions, Volume 41, Issue 4, November 2026.
ABSTRACT Dravet syndrome (DS) is a rare and severe developmental and epileptic encephalopathy that is characterized by prolonged seizures beginning in the first year of life, followed by debilitating and complex features, including sleep disturbances, feeding problems, social‐emotional difficulties, speech deficits, and cognitive and motor impairments.
Isabel B. Hayes, Kasey E. Bedard, A. Delyla Ulm, Veronica Robbins‐Hood   +3 more
wiley   +1 more source

Disfagia orofaríngea em crianças com síndrome Cornélia de Lange Oropharyngeal dysphagia in children with Cornelia de Lange syndrome

Revista CEFAC, 2010
OBJETIVO: descrever os achados das fases oral e faríngea da deglutição, bem como os aspectos sensório-motores orofaciais relevantes em crianças com a síndrome Cornélia de Lange. MÉTODOS: trata-se de relato de caso, retrospectivo.
Priscila Martins Foroni, Anne Marques Beato, Liciane Pinelli Valarelli, Luciana Vitaliano Voi Trawitzki   +3 more
doaj  

Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients

BMC Medical Genetics, 2019
Background Cornelia de Lange syndrome (CdLS), a rare, multisystemic disorder, has been linked to genetic alterations in NIPBL, SMC1A, SMC3, HDAC8, and RAD21 genes. Approximately 60% of CdLS patients harbor various NIPBL variants.
Natalia Krawczynska, Jolanta Wierzba, Jacek Jasiecki, Bartosz Wasag   +3 more
doaj   +1 more source

A Species‐Dependent Spatial Patterning of FOXP1 and nNOS Protein Expression in the Adult Mammalian Subthalamic Nucleus

Journal of Comparative Neurology, Volume 534, Issue 11, November 2026.
FOXP1+ and nNOS+ neurons constitute distinct neuronal populations in the adult subthalamic nucleus, with spatial segregation in rodents but extensive intermixing in humans. The human STN also shows an expanded nNOS+ population and increased FOXP1+/nNOS+ colocalization, highlighting species‐specific differences in STN organization.
Tila Medenica, Ema Bokulić, Miloš Judaš, Goran Sedmak   +3 more
wiley   +1 more source

Síndrome Brachmann-de Lange: a propósito de três casos Brachmann-de Lange syndrome: report of three cases

Arquivos de Neuro-Psiquiatria, 1973
São relatados três casos de síndrome de Brachman-de Lange, com análise laboratorial, estudo radiológico e eletrencefalográfico. Os autores fazem revisão da literatura enquadrando seus casos nesta síndrome cuja etiologia até o momento permanece obscura. A
Maier Sztajnberg, Fernando Pompeu, Ivan Teixeira, Sergio Carneiro, Israel Schulz, Sergio Ribeiro   +5 more
doaj