Results 51 to 60 of about 121,449 (266)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The Homologous Recombination Factor With OB‐Fold (HROB) plays a role in homologous recombination and DNA replication, where it enhances the MCM8‐MCM9 helicase complex activity. Recent findings link biallelic germline HROB variants to primary gonadal insufficiency (hypergonadotropic hypogonadism), a phenotype also associated with MCM8/MCM9 ...
Noah C. Helderman +15 more
wiley +1 more source
Melatonin Levels in 89 Individuals With Smith Magenis Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT In patients with Smith–Magenis syndrome (SMS), an inverted circadian rhythm of melatonin (MT) contributes to the sleep disturbance. Standard treatment of sleep disturbance with MT often leads to extremely high daytime MT levels, resulting in even more sleep disorders. We therefore retrospectively evaluated the MT data of 89 SMS patients.
Wiebe Braam, Ann C. M. Smith
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Smith–Magenis syndrome (SMS) results from either a recurrent 17p11.2 deletion or pathogenic variants in the retinoic acid induced 1 gene (RAI1). While neurodevelopmental impairment and behavioral dysregulation are well recognized, systematic genotype‐stratified analyses across psychiatric domains remain limited.
Albin Blanc +7 more
wiley +1 more source
International Forum of Allergy &Rhinology, EarlyView.ABSTRACT Background To determine the safety and efficacy of laser ablation of the posterior nasal nerve (PNN) for the treatment of chronic rhinitis. Methods This study was a single‐center, prospective, single‐blinded, randomized sham‐controlled trial. Patients with a 24‐h reflective Total Nasal Symptom Score (rTNSS) ≧ 5, rhinorrhea ≧ 2, and congestion ≧
Jyun‐Yi Liao +9 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.The graphical abstract shows how molecular biology research has shifted from using traditional animal models toward using methods that are more relevant to humans. It points out the main problems, differences between species, difficulty in reproducing results, moral issues, and lack of infrastructure that make translational accuracy harder to achieve ...
Md. Shajid Hossain Rafi +6 more
wiley +1 more source
Temporal activity and detection rates of chilla (Lycalopex griseus) in Tierra del Fuego, Argentina
Ecology and EvolutionDesigning mitigation strategies for invasive species requires a clear understanding of their ecology and behaviour. Chilla (or grey fox; Lycalopex griseus) were introduced to Isla Grande de Tierra del Fuego (Tierra del Fuego Island) in 1951 to control ...
Maximilian L. Allen, Andrew T. L. Allan
doaj +1 more source
Nuits intimes et inimitiés nocturnes
Miranda: Revue Pluridisciplinaire du Monde Anglophone, 2020 La nuit porte en elle le langage de l’inexprimable. Harmonieuse, maternelle, profonde, elle ouvre aussi les portes de l’abîme. Forçant à plonger dans l’inconnu, elle en expose les affres et les tourments.
Alain Montandon
doaj +1 more source
The Anatomical Record, EarlyView.Abstract Analysis of the variation in the bony structures of the inner and middle ear provides critical insights into functional morphology, as well as adaptive morphology across primates. In this study, we investigated whether ear morphology patterns are related to the ecological characteristics of species and their habitats to test two acoustic ...
Myriam Marsot +4 more
wiley +1 more source
Prevalence and risk factors of monosymptomatic nocturnal enuresis in Turkish children
Indian Journal of Urology, 2010 Objectives : To determine the prevalence of primary monosymptomatic nocturnal enuresis (PMNE) and assess risk factors that can cause this disease.
Secil Ozkan +5 more
doaj +1 more source