Results 31 to 40 of about 168,602 (136)
CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder +7 more
wiley +1 more source
Atypical status of bovine spongiform encephalopathy in Poland: a molecular typing study [PDF]
, 2008 The aim of this study was to analyze molecular features of protease-resistant prion protein (PrPres) in Western blots of BSE cases diagnosed in Poland with respect to a possible atypical status.
Polak, M.P. +3 more
core +1 more source
, 2018 Montage from patients with superior coloboma (numbers represent patients described in S1 Table). #1: unilateral superior iris coloboma. #2: first panel, asymmetrically-sized iris defects with bilateral pupil involvement, left eye shown; second panel ...
Seema Agarwala (4925746) +10 more
core +1 more source
Clinical practice guidelines for the management of atypical haemolytic uraemic syndrome in the United Kingdom [PDF]
, 2010 Atypical haemolytic uraemic syndrome (aHUS) is associated with a poor prognosis with regard to survival at presentation, recovery of renal function and transplantation.
Sam Machin +8 more
core +1 more source
, 2023 Coloboma is a term used to describe defects seen in various ocular structures due to incomplete embryologic development. Fundus coloboma specifically is due to failure of the embryonal fissure to close, which typically occurs by 5-7 weeks gestation ...
Kirstyn Taylor; Drew Scoles, MD
core
Review of Evidence For Environmental Causes of Uveal Coloboma [PDF]
, 2022 Uveal coloboma is a condition defined by missing ocular tissues and is a significant cause of childhood blindness. It occurs from a failure of the optic fissure to close during embryonic development and may lead to missing parts of the iris, ciliary body,
Selzer, Evan B +5 more
core +1 more source
Health Science Reports, Volume 9, Issue 7, July 2026.ABSTRACT Background and Aims Filippi syndrome is a very rare autosomal recessive craniodigital disorder primarily caused by mutations in the gene CKAP2L, characterized by syndactyly, microcephaly, growth retardation, distinctive craniofacial features, and intellectual disability.
Muhammad Anas Faheem +9 more
wiley +1 more source
First Revision of the Guidelines for the Diagnosis and Management of Remethylation Disorders
Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.ABSTRACT This guideline summarizes diagnostic and therapeutic approaches based on a systematic literature review and evidence evaluation using the GRADE methodology. Given the limited high‐quality data, expert consensus was additionally obtained through a modified Delphi process.
Giorgia Olivieri +26 more
wiley +1 more source
Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome
Case Reports in Genetics, 2015 Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma.
Guillaume Jedraszak +5 more
doaj +1 more source
The technical and practical implementation of fundus photography in equids
Equine Veterinary Education, Volume 38, Issue 7, Page 371-381, July 2026.Summary Background Fundus photography is an important diagnostic tool in human and veterinary medicine. Advances in research are increasing its accessibility in human medicine. However, there is a lack of studies on modern fundus photography in animals, particularly in horses. Objectives To assess the use of a portable fundus camera developed for human
I. Vierling, B. Wollanke, V. Franzen
wiley +1 more source