Results 101 to 110 of about 6,561,272 (426)
Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 29-36, January 2023., 2023 Abstract De novo truncating and splicing pathogenic variants in the Additional Sex Combs‐Like 3 (ASXL3) gene are known to cause neurodevelopmental delay, intellectual disability, behavioral difficulties, hypotonia, feeding problems and characteristic facial features.
Schaida Schirwani +10 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective Promoting Resilience in Stress Management (PRISM) is a resilience coaching program designed for adolescents with chronic illness. We aimed to examine the perceived feasibility, acceptability, and appropriateness of PRISM among pediatric rheumatologists treating adolescents with chronic musculoskeletal pain and obtain recommendations for ...
Sabrina Gmuca +9 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 1, Page 299-305, January 2023., 2023 Abstract Informing parents that their child has a diagnosis of Down syndrome (DS) is a common example of the delivery of unexpected or difficult news. Expectations and life planning will change, and if detected prenatally, discussions might include the option of pregnancy termination.
Ashley M. Vanasse +8 more
wiley +1 more source
Arthritis Care &Research, EarlyView.As many patients with inflammatory arthritis (IA) have chronic pain, understanding how to best assess and manage pain in IA is a priority. Comorbid depression is prevalent in adults with IA, affecting 15% to 39% of people. Although pain and depression are thought to be associated in IA, this concept is largely based on cross‐sectional data.
Natasha Cox +3 more
wiley +1 more source
Further characterization of NFIB‐associated phenotypes: Report of two new individuals
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 540-545, February 2023., 2023 Abstract Nuclear Factor I B (NFIB) haploinsufficiency has recently been identified as a cause of intellectual disability (ID) and macrocephaly. Here we report on two new individuals carrying a microdeletion in the chromosomal region 9p23‐p22.3 containing NFIB.
Gemma Marinella +8 more
wiley +1 more source
A Novel Approach to Implementing Artificial Thalamic Neurons with Ferroelectric Transistors
Advanced Functional Materials, EarlyView.Artificial neurons created using CMOS technology often require a large number of transistors and capacitors. This study introduces an artificial thalamic neuron that employs only five CMOS compatible ferroelectric transistors. The manufactured thalamic neuron demonstrates leaky integrate‐and‐fire‐or‐burst (LIFB) functionalities, featuring self ...
Andreas Grenmyr +7 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 332-337, February 2023., 2023 Abstract GTF2IRD1, a gene on chromosome 7 which encodes a transcription factor, is of significant clinical interest due to its heterozygous loss as part of the classical deletion associated with Williams–Beuren syndrome (WBS). However, biallelic variants in GTF2IRD1 alone as part of an autosomal recessive disease have not been previously reported. Here,
Christopher Thomas Cummings +1 more
wiley +1 more source
Advanced Materials, EarlyView.Wearable sensors, empowered by AI and smart materials, revolutionize healthcare by enabling intelligent disease diagnosis, personalized therapy, and seamless health monitoring without disrupting daily life. This review explores cutting‐edge advancements in smart materials and AI‐driven technologies that empower wearable sensors for diagnostics and ...
Shuwen Chen +14 more
wiley +1 more source
Tissue mosaicism, FMR1 expression and intellectual functioning in males with fragile X syndrome
American Journal of Medical Genetics Part A, Volume 191, Issue 2, Page 357-369, February 2023., 2023 Abstract Fragile X syndrome (FXS) is caused by hypermethylation of the FMR1 promoter due to the full mutation expansion (full mutation [FM]: CGG ≥ 200 repeats) and silencing of FMR1. Assessment of mosaicism for active‐unmethylated alleles has prognostic utility.
Emma K. Baker +17 more
wiley +1 more source
Patients with learning disabilities [PDF]
British Journal of General Practice, 2009 With reference to the letters following and original article by Mike Fitzpatrick,1 I find it hard to believe that our own patients' experience could be so very different to those in the study GPs' populations. I would agree that there may well be access difficulties to many of these patients, as there are to those with mobility problems, or indeed ...
openaire +3 more sources