Results 31 to 40 of about 3,939 (213)

Alstrom syndrome with classical findings: a rare case report of monogenic ciliopathy co-occurrence in twins. [PDF]

Ann Med Surg (Lond)
Ghimire S, Simkhada S, Thapa S, Ghising K.   +3 more
europepmc   +2 more sources

The role of an ophthalmologist in the Alström syndrome diagnosis [PDF]

Vojnosanitetski Pregled, 2019
Introduction. The Alström syndrome (AS) is an extremely rare autosomal recessive genetic disorder, affecting fewer than 1: 1,000,000 people globally. It is a single gene disorder due to the mutation of ALMS1 on chromosome 2 (2p13).
Karadžić Jelena, Pantelić Jelica, Kovačević Igor, Trenkić-Božinović Marija   +3 more
doaj   +1 more source

Six-year mortality in a street-recruited cohort of homeless youth in San Francisco, California. [PDF]

, 2016
Objectives. The mortality rate of a street-recruited homeless youth cohort in the United States has not yet been reported. We examined the six-year mortality rate for a cohort of street youth recruited from San Francisco street venues in 2004.
Auerswald, Colette, Lin, Jessica, Parriott, Andrea   +2 more
core   +6 more sources

Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis

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, Sarangapani Sripriya, Suriyanarayanan Pavithra, Parveen Sen, Ravi Gupta, Sinnakaruppan Mathavan   +5 more
doaj   +1 more source

Association of circulating miRNAS in patients with Alstrőm and Bardet-Biedl syndromes with clinical course parameters

Frontiers in Endocrinology, 2022
BackgroundPatients with the rare syndromic forms of monogenic diabetes: Alström syndrome (ALMS) and Bardet-Biedl syndrome (BBS) have multiple metabolic abnormalities, including early-onset obesity, insulin resistance, lipid disorders and type 2 diabetes ...
Agnieszka Zmyslowska, Urszula Smyczynska, Marcin Stanczak, Krzysztof Jeziorny, Agnieszka Szadkowska, Wojciech Fendler, Wojciech Fendler, Maciej Borowiec   +7 more
doaj   +1 more source

How are patients with rare diseases and their carers in the UK impacted by the way care is coordinated? An exploratory qualitative interview study

Orphanet Journal of Rare Diseases, 2021
Background Care coordination is considered important for patients with rare conditions, yet research addressing the impact of care coordination is limited.
Amy Simpson, Lara Bloom, Naomi J. Fulop, Emma Hudson, Kerry Leeson-Beevers, Stephen Morris, Angus I. G. Ramsay, Alastair G. Sutcliffe, Holly Walton, Amy Hunter   +9 more
doaj   +1 more source

Whole-exome sequencing establishes a diagnosis of Alstrom syndrome: a case report. [PDF]

Transl Pediatr, 2022
Liu Z, Chen X.
europepmc   +3 more sources

Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies [PDF]

, 2022
Inherited syndromic retinopathies are a highly heterogeneous group of diseases that involve retinal anomalies and systemic manifestations. They include retinal ciliopathies, other well-defined clinical syndromes presenting with retinal alterations and ...
Ayuso, Carmen, Blanco Kelly, Fiona, Corton, Marta, García Sandoval, Blanca, Hakonarson, Hakon, Liu, Yichuan, Lorda, Isabel, López Molina, María Isabel, Mínguez, Pablo, Pérez Carro, Raquel, R. J. da Silva, Luciana, Riveiro Álvarez, Rosa, Sánchez Alcudia, Rocío, Sánchez Bolivar, Noelia, Sánchez Navarro, Iker, Tahsin Swafiri, Saoud, Tian, Lifeng, Valverde Pérez, Diana, Villaverde, Cristina, Zurita, Olga, Ávila Fernández, Almudena   +20 more
core   +1 more source

A Review of Alstrom Syndrome

Future Journal of Pharmaceuticals and Health Sciences, 2023
Alström disease is a condition of autosomal recessive trait disorders that are characterized. At the same time, cone-rod spinal muscular atrophy, hearing impairment, adolescent upper abdominal overweight, insulin sensitivity but also insulin production, insulin-dependent, hypercholesterolemia, present approximately through sexual maturity, myocardial ...
openaire   +1 more source

Decoding of Quantum Data-Syndrome Codes via Belief Propagation [PDF]

in Proc. IEEE International Symposium on Information Theory (ISIT), 2021, pp. 1552--1557, 2021
Quantum error correction is necessary to protect logical quantum states and operations. However, no meaningful data protection can be made when the syndrome extraction is erroneous due to faulty measurement gates. Quantum data-syndrome (DS) codes are designed to protect the data qubits and syndrome bits concurrently.
arxiv   +1 more source