Results 91 to 100 of about 2,862 (212)

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, Alan Ma, Benjamin M. Nash, Zachary McPherson, John R. Grigg, Robyn V. Jamieson   +5 more
wiley   +1 more source

Mouse models of ciliopathies: the state of the art

Disease Models & Mechanisms, 2012
The ciliopathies are an apparently disparate group of human diseases that all result from defects in the formation and/or function of cilia. They include disorders such as Meckel-Grüber syndrome (MKS), Joubert syndrome (JBTS), Bardet-Biedl syndrome (BBS)
Dominic P. Norris, Daniel T. Grimes
doaj   +1 more source

Identification of Variants in Four Families With Inherited Eye Disorders by Whole Exome Sequencing

Molecular Genetics &Genomic Medicine, Volume 13, Issue 9, September 2025.
Our study identified mutations in genes in families associated with different eye disorders. We also explored the effect of a novel variant identified in the ALMS1 gene by using patient‐specific cells. Finally, previously published data was compiled to establish the genotype–phenotype relation.
Afeefa Jarral, Rabia Basharat, Sundus Sajid, Kinza Arshad, Imran Ali, Muhammad Ansar   +5 more
wiley   +1 more source

Generation of an induced pluripotent stem cell line from an Alström Syndrome patient with ALMS1 mutation (c.3902C > A, c.6436C > T) and a gene correction isogenic iPSC line

Stem Cell Research, 2020
To develop a disease model for the human Alström Syndrome (AS), we used the episomal reprogramming system and CRISPR/Cas9 technology to generate an induced pluripotent stem cell (iPSC) line with the compound heterozygous patient mutation (ALMS1 c.3902C > 
Xiaoli Ji, Qingyuan Tang, Chuanqing Tang, Ziyan Wu, Ling Ma, Xiaohong Guo, Guoqiang Cheng, Yuejun Chen, Tong Yang, Man Xiong, Wenhao Zhou   +10 more
doaj   +1 more source

Inherited causes of combined vision and hearing loss: clinical features and molecular genetics [PDF]

, 2022
Combined vision and hearing loss, also known as dual sensory impairment, can occur in several genetic conditions, including ciliopathies such as Usher and Bardet-Biedl syndrome, mitochondrial DNA disorders and systemic diseases, such as CHARGE, Stickler,
Arram, Elizabeth, Georgiou, Michalis, Guimaraes, Thales Antonio Cabral de, Michaelides, Michel, Shakarchi, Ahmed F   +4 more
core  

Alternative Splicing Regulation in Metabolic Disorders

Obesity Reviews, Volume 26, Issue 9, September 2025.
ABSTRACT Alternative splicing (AS) is a fundamental mechanism for enhancing transcriptome diversity and regulating gene expression, crucial for various cellular processes and the development of complex traits. This review examines the role of AS in metabolic disorders, including obesity, weight loss, dyslipidemias, and metabolic syndrome.
Dorota Kaminska
wiley   +1 more source

Cardiac magnetic resonance imaging in Alström syndrome

Orphanet Journal of Rare Diseases, 2009
Background A case series of the cardiac magnetic resonance imaging findings in seven adult Alström patients. Methods Seven patients from the National Specialist Commissioning Group Centre for Alström Disease, Torbay, England, UK, completed the cardiac ...
Carey Catherine M, Bellenger Nicholas G, Loudon Margaret A, Paisey Richard B   +3 more
doaj   +1 more source

Profil génétique et prévalence de la fibrose kystique dans les communautés acadiennes et francophones des Maritimes [PDF]

, 2009
Nous évaluons ici la situation des Acadiens et des francophones des provinces maritimes (Nouvelle-Écosse, Nouveau-Brunswick, Île-du-Prince-Édouard) face à la fibrose kystique, la maladie génétique létale la plus répandue en Amérique du Nord.
Chappe, Frédéric, Chappe, Valérie, McGrath, Karla, Robinson, Walter   +3 more
core   +1 more source

Rare Case of Laurence–Moon–Bardet–Biedl Syndrome With Pulmonary Hypertension: A Case Report

Clinical Case Reports, Volume 13, Issue 8, August 2025.
ABSTRACT Laurence‐Moon‐Bardet‐Biedl Syndrome is a complicated polygenic disorder that can have lethal manifestations such as pulmonary hypertension. Early recognition, comprehensive medical treatment, and psychological intervention for the family are crucial, but survival is usually short in those with a poor functional status and increasingly impaired
Areeba Mariam Mehmood, S. M. Salman Hassan, Ayesha Malik, Muhammad Faizan, Muhammad Usama bin Shabbir, Aqsa Jabeen, Allahdad Khan, Aseel Kamal   +7 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, Gouronc, Aurélie, Leuvrey, Anne-Sophie, Mauring, Laura, Muller, Jean, Pelletier, Valerie, Porter, Louise Frances, Riehm, Axelle, Stoetzel, Corinne, Studer, Fouzia   +9 more
core   +2 more sources