Results 71 to 80 of about 2,857 (146)
Cardiogenetics, 2012 Alström syndrome is a rare autosomal recessive disorder with dilated cardiomyopathy in 60% of patients. Despite the frequency of cardiac involvement in Alström syndrome, conduction system abnormalities or arrhythmias have not been characterized
Richard J. Czosek +5 more
doaj +1 more source
New and emerging technologies for the treatment of inherited retinal diseases: a horizon scanning review. [PDF]
, 2015 The horizon scanning review aimed to identify new and emerging technologies in development that have the potential to slow or stop disease progression and/or reverse sight loss in people with inherited retinal diseases (IRDs).
Michaelides, M +4 more
core
Expanded carrier screening: A current perspective [PDF]
, 2018 Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb +12 more
core +1 more source
Glucagon-like peptide-1 analogues in monogenic syndromic obesity:Real-world data from a large cohort of Alström syndrome patients [PDF]
, 2023 AIM: To examine the real-world efficacy of glucagon-like peptide-1 receptor agonists (GLP-1 RAs) in monogenic obesity in patients with Alström syndrome (ALMS).METHODS: We screened 72 UK adult patients with ALMS and offered treatment to 34 patients ...
Ali, Sadaf +7 more
core +1 more source
IMPROVE 2023: The 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence
Clinical Obesity, Volume 15, Issue 5, October 2025.ABSTRACT A total of 150 clinicians and researchers representing 19 countries came together in person and online to participate in the highly anticipated 2nd International Meeting on Pathway‐Related Obesity: Vision & Evidence (IMPROVE), held on 13–15 December 2023 in Paris, France.
Karine Clément +19 more
wiley +1 more source
Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation [PDF]
, 2020 Alström syndrome (ALMS) is a rare autosomal recessive multi-organ syndrome considered to date as a ciliopathy and caused by variations in ALMS1. Phenotypic variability is well-documented, particularly for the systemic disease manifestations; however ...
Dollfus, Helene +9 more
core +2 more sources
A Practical Guide to Genetic Eye Conditions for Paediatricians
Journal of Paediatrics and Child Health, Volume 61, Issue 10, Page 1538-1548, October 2025.ABSTRACT Introduction Inherited eye disorders, though individually rare, are a collectively common cause of paediatric vision impairment. Many occur as part of a syndrome, in association with congenital anomalies and/or growth/developmental disorders.
Richard Lin +5 more
wiley +1 more source
A very early diagnosis of Alstrӧm syndrome by next generation sequencing
BMC Medical Genetics, 2020 Background Alström syndrome is a rare recessively inherited disorder caused by variants in the ALMS1 gene. It is characterized by multiple organ dysfunction, including cone-rod retinal dystrophy, dilated cardiomyopathy, hearing loss, obesity, insulin ...
Leonardo Gatticchi +12 more
doaj +1 more source
Human Genome Variation, 2021 Leber congenital amaurosis (LCA) is a severe autosomal recessive retinal degenerative disease. The current study describes exome sequencing results for two unrelated Indian LCA patients carrying novel nonsense p.(Glu636*) and frameshift p.(Pro2281Leufs ...
Natarajan N. Srikrupa +5 more
doaj +1 more source