Results 41 to 50 of about 2,766 (286)
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source
Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen +13 more
wiley +1 more source
Tolerance to dodder (Cuscuta campestris L.) in citrus species of south of Kerman province – Iran
Journal of the Saudi Society of Agricultural Sciences, 2021 Dodder is a parasitic weed that causes a lot of damage to citrus production in the south of Kerman province, Iran. Introducing cultivars which tolerant to this parasite can be considered a very effective step in controlling it. Therefore, to evaluate the
Mohammad Roozkhosh +5 more
doaj +1 more source
The Anatomical Record, EarlyView.Abstract The cortical bone structure of long bone diaphyses changes throughout growth via skeletal modeling and has important implications for bone strength and structural integrity. Ontogenetic trends in diaphyseal structure have been identified in both chimpanzees and humans but it is not yet clear how these trends compare given notable differences ...
Karen R. Swan +3 more
wiley +1 more source
BMC Plant Biology, 2019 Background Dodder (Cuscuta spp., Convolvulaceae) species are obligate leaf- and rootless parasites that totally depend on hosts to survive. Dodders naturally graft themselves to host stems to form vascular fusion, from which they obtain nutrients and ...
Yan Qin +7 more
doaj +1 more source
Autism Screening in the First Year and Beyond: Comparison of Multiple Measures
Autism Research, EarlyView.ABSTRACT Autism screening aids in early detection and diagnosis. Several screeners are available for toddlers 16 months and older, but there is little data on the accuracy of screening measures used in the first year of life. A community sample (N = 1641) completed three screeners—M‐CHAT‐R, ITC, VIRSA—online at 6, 9, 12, 18, and 24 months of age ...
Devon N. Gangi +7 more
wiley +1 more source
Predictors of Change in Severity of Self‐Injurious Behaviors in Preschool‐Aged Autistic Children
Autism Research, EarlyView.ABSTRACT Self‐injurious behaviors (SIBs) affect up to 50% of autistic individuals and significantly impact quality of life and everyday functioning. Cross‐sectional studies link the presence of SIB to lower IQ, altered sensory responsivity, and poor emotion regulation, yet their effect on changes in SIB severity from early childhood to school age in ...
Joseph Boyle +9 more
wiley +1 more source
British Journal of Clinical Pharmacology, EarlyView.With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić +4 more
wiley +1 more source
Dodder (Cuscuta sp.) Extract Ameliorates Liver Fibrosis in Bile Duct-Ligated Rats
European Journal of Biology, 2022 Objective: The aim is to examine the possible protective effect of Cuscuta sp. extract against liver damage induced by biliary obstruction in rats.
Ömercan Albayrak +8 more
doaj +1 more source
British Journal of Clinical Pharmacology, EarlyView.Aims This study aimed to analyse clinical investigation‐device initial submissions received by the MHRA between January 2022 and December 2025. Methods Data on submissions were extracted from the clinical investigations unit data bank; software as medical devices were not included. The predefined primary end‐point was submission type.
Andrea Manfrin +7 more
wiley +1 more source