Results 21 to 30 of about 117,920 (299)
Marfan syndrome: An eyesight of syndrome
Meta Gene, 2014 Marfan syndrome (MFS), a relatively common autosomal dominant hereditary disorder of connective tissue with prominent manifestations in the skeletal, ocular, and cardiovascular systems, is caused by mutations in the glycoprotein gene fibrillin-1 (FBN1).
Kumar, Ashok, Agarwal, Sarita
openaire +2 more sources
Pendred Syndrome, or Not Pendred Syndrome? That Is the Question [PDF]
Genes, 2021 Pendred syndrome (PDS) is the most common form of syndromic Hearing Loss (HL), characterized by sensorineural HL, inner ear malformations, and goiter, with or without hypothyroidism. SLC26A4 is the major gene involved, even though ~50% of the patients carry only one pathogenic mutation.
Paola Tesolin +11 more
openaire +3 more sources
Frontiers in Dental Medicine, 2021 Objective: To identify which genes are associated with the clinical phenotype of amelogenesis Imperfecta (AI) and to elucidate which of these genes participate in the determination of isolated and syndromic forms.Methods: In this review, all data on ...
Blanca Urzúa +6 more
doaj +1 more source
Myelodysplastic syndromes with nephrotic syndrome [PDF]
American Journal of Hematology, 1999 It is sometimes reported that the immunological abnormalities in myelodysplastic syndromes (MDS) induce autoimmune disease (i.e., acute systemic vasculitic syndrome, chronic cutaneous vasculitis, polyneuropathy, relapsing polychondritis, and steroid-responsive pulmonary disorders).
T, Saitoh +10 more
openaire +2 more sources
Frontiers in Veterinary Science, 2020 There are calls from policy-makers and industry to use existing data sources to contribute to livestock surveillance systems, especially for syndromic surveillance.
Sue C. Tongue +5 more
doaj +1 more source
Metabolic Syndrome in Cushing’s Syndrome [PDF]
Neuroendocrinology, 2010 Although the concept of metabolic syndrome (MetS) as a disease entity continues to be debated, it provides a means by which patients at risk for diabetes and cardiovascular disease can be identified and categorized with routinely available criteria. Insulin resistance plays a central role in these abnormalities.
Philippe, Chanson, Sylvie, Salenave
openaire +2 more sources
Using Ontario's "Telehealth" health telephone helpline as an early-warning system: a study protocol. [PDF]
, 2006 BACKGROUND: The science of syndromic surveillance is still very much in its infancy. While a number of syndromic surveillance systems are being evaluated in the US, very few have had success thus far in predicting an infectious disease event. Furthermore,
Don McGuinness +11 more
core +2 more sources
Journal of Pediatric Neurosciences, 2017 We report a case of surgical management of Crouzon syndrome with multisuture craniosynostosis presenting with increased intracranial pressure (ICP) manifesting with chronic papilledema without ventriculomegaly.
Melissa LoPresti +5 more
doaj +1 more source
Comprehensive genetic evaluation of Bulgarian children with syndromic craniosynostosis
Balkan Journal of Medical Genetics, 2023 Syndromic craniosynostosis (SC) is a genetically determined premature closure of one or more of the cranial sutures, which may result in severe dysmorphism, increased intracranial pressure along with many other clinical manifestations.
Delchev T +5 more
doaj +1 more source
Journal of Pediatric Neurosciences, 2021 Background: The etiological or causal factors of pediatric craniovertebral junction anomalies (CVJA) are still unknown. The disease bears a major proportion of economic and social burdens over a developing country like ours.
Ashish R Sharma +9 more
doaj +1 more source