Results 101 to 110 of about 22,857 (208)
Pediatric Dermatology, EarlyView.ABSTRACT Cutis tricolor (CT) is a rare pigmentary mosaicism characterized by the coexistence of hyperpigmented and hypopigmented areas on a background of normal skin; its syndromic form, Ruggieri–Happle syndrome (RHS), is associated with neurodevelopmental delay, facial dysmorphism, skeletal abnormalities, and other systemic defects.
Didier Bessis +2 more
wiley +1 more source
Prevalence of congenital microcephaly and its risk factors in an area at risk of Zika outbreaks. [PDF]
BMC Pregnancy Childbirth, 2021 Shen S +12 more
europepmc +1 more source
Effect of blood meals and mating on biodemographic characteristics of Aedes albopictus
Physiological Entomology, EarlyView.Lifespan did not differ between virgin and mated males and females. The number of blood meals (one and two) significantly reduced adult lifespan compared with those with no blood meal. The effect of the second blood meal doubled females' egg production and their reproductive output.
Georgios D. Mastronikolos +1 more
wiley +1 more source
Paediatric and Perinatal Epidemiology, EarlyView.ABSTRACT Background Mortality risk rises from childhood into early adulthood. Young people with neurodisability (neurological conditions causing functional limitations) may be particularly vulnerable during the transition from paediatric to adult services.
Louise Macaulay +6 more
wiley +1 more source
Experimental Physiology, EarlyView.Abstract Sarcopenia and frailty are complex geriatric syndromes influenced by a combination of genetic and environmental factors. Recent studies suggest that specific genetic variants, DNA methylation patterns and shortened telomeres are associated with age‐related diseases and might contribute to the development of both sarcopenia and frailty. In this
Valentina Ginevičienė +10 more
wiley +1 more source
Brazilian Dental ScienceObjective: To digitally compare palatal linear and angular anthropometry in children with and without congenital zika syndromeassociated microcephaly.
Aliny Bisaia +5 more
doaj +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.Exome sequencing in 200 CAKUT patients identified compound heterozygous rare CTU2 variants in one renal‐predominant case. Minigene splicing assays showed c.913C>T partially increased exon 9 skipping, supporting further case collection and kidney‐relevant studies to clarify the role of CTU2 in renal developmental phenotypes.
Qian Liu +5 more
wiley +1 more source
The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023
Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg +9 more
wiley +1 more source
Expanding the phenotype of CARS1 variants to include congenital hyperinsulinism
BMC Medical GenomicsBackground CARS1 loss of function compound heterozygous or homozygous variants have been reported in five individuals to cause a neurodevelopmental phenotype that includes microcephaly and brittle hair and nails.
Victoria R. Sanders +3 more
doaj +1 more source
Clinical Genetics, Volume 110, Issue 2, Page 150-164, August 2026.We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw +30 more
wiley +1 more source