Results 241 to 250 of about 18,376 (272)
Systemic Surveillance Guidelines for Uveal Melanoma: A Systematic Review
Clinical &Experimental Ophthalmology, EarlyView.ABSTRACT Background Uveal melanoma (UM) is the most common primary intraocular tumour. Despite effective local therapies, UM has a high risk of metastatic recurrence, most frequently to the liver. A significant proportion of patients treated definitively for primary UM eventually experience metastatic disease. Systemic surveillance to detect recurrence
Farzana Y. Zaman +6 more
wiley +1 more source
Primary Cilium in Neural Crest Cells Crucial for Anterior Segment Development and Corneal Avascularity. [PDF]
Invest Ophthalmol Vis SciSeo S +7 more
europepmc +1 more source
Clinical Genetics, EarlyView.Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart +17 more
wiley +1 more source
Clinical Genetics, EarlyView.Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti +16 more
wiley +1 more source
The Phenotypic and Genotypic Features of ADAMTSL4‐Related Ocular Disease
Clinical Genetics, EarlyView.ADAMTSL4‐related ocular disease tends to present at a younger age and be associated with higher myopia than other forms of ectopia lentis (such as FBN1). A previously reported 20‐bp deletion (c.767_786del) was highly prevalent in this cohort (23/32), and all ectopia lentis et pupillae cases carried this variant. ABSTRACT Pathogenic variants in ADAMTSL4
Katie M. Williams +14 more
wiley +1 more source
Clinical Genetics, EarlyView.CT scan image of a 17‐year‐old female with primary ciliary dyskinesia (PCD) showing dextrocardia and bilateral bronchiectasis. The study describes genetic mutations affecting patients with PCD in Qatar and the corresponding clinical phenotype of affected patients.
Atqah AbdulWahab +7 more
wiley +1 more source
Clinical Genetics, EarlyView.This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau +7 more
wiley +1 more source
Exploring Young Autistic Children's Family and Independent Digital Experiences at Home
Children &Society, EarlyView.ABSTRACT This study investigated how young autistic children engaged with digital technologies within the home context. Studying the everyday lives of three families in Queensland, Australia provided opportunities to identify the digital technologies they used and the purpose and potential of the children's digital interactions.
Irina Silva, Susan Danby, Beth Saggers
wiley +1 more source
Hcfc1 and Ogt Mediate Zebrafish CNS Regeneration Through Hippo/Yap Signalling
Cell Proliferation, EarlyView.This work identifies Hcfc1 and Ogt as key regulators of zebrafish CNS regeneration through modulation of Hippo/Yap signalling. Loss of Hcfc1 or Ogt activity inhibition impairs regeneration, which is restored by Yap overexpression, revealing a new regulatory axis that enhances CNS regenerative capacity.
Priyanka P. Srivastava +9 more
wiley +1 more source