Results 131 to 140 of about 1,912 (196)

A review of Alström syndrome: a rare monogenic ciliopathy. [PDF]

Intractable Rare Dis Res, 2021
Choudhury AR, Munonye I, Sanu KP, Islam N, Gadaga C.   +4 more
europepmc   +1 more source

Alström syndrome in China: epidemiologic trends, geographic distribution, and clinical-socioeconomic profiles under innovative care models. [PDF]

BMC Pediatr
Zhang Q, Wang L, Huang Y, Gao S, Chang G, Ding Y, Wang X.   +6 more
europepmc   +1 more source

Role of Alström syndrome 1 in the regulation of glomerular hemodynamics.

Am J Physiol Renal Physiol, 2023
Monu SR, Potter DL, Liao TD, King KN, Ortiz PA.   +4 more
europepmc   +1 more source

Diagnosing Alström syndrome in a patient followed up with syndromic obesity for years. [PDF]

Intractable Rare Dis Res, 2022
Yakubi M, Cicek D, Demir M, Yildirim A, Hatipoglu N, Ozkul Y, Dundar M.   +6 more
europepmc   +1 more source

Infantile Dilated Cardiomyopathy in Alström Syndrome. [PDF]

Cureus
Van Huffel J, Derycke E, Detaille T, Moniotte S, Hubrechts J.   +4 more
europepmc   +1 more source

Molecular and Phenotypic Expansion of Alström Syndrome in Chinese Patients. [PDF]

Front Genet, 2022
Zhang Q, Ding Y, Feng B, Tang Y, Chen Y, Wang Y, Chang G, Liu S, Wang J, Li Q, Fu L, Wang X.   +11 more
europepmc   +1 more source

Alström syndrome: a cross-sectional and follow-up study of 127 patients in China, highlighting genetic variant spectrum and cardiac features. [PDF]

Orphanet J Rare Dis
Huang Y, Wang L, Zhang Q, Gao S, Chang G, Yu T, Yao RE, Ding Y, Wang X.   +8 more
europepmc   +1 more source

A novel missense ALMS1 variant causes aberrant splicing identified in a cohort of patients with Alström syndrome. [PDF]

Front Genet, 2022
Shi J, Xu K, Zhang X, Xie Y, Chang H, Li Y.   +5 more
europepmc   +1 more source

Defining Puberty and Spectrum of Hypogonadism in Alström Syndrome.

J Clin Endocrinol Metab
Ali S, Zhang Q, Anwunah I, Baig S, Xavier GDS, Dawson C, Dassie F, Tang Y, Wang L, Chang G, Gleeson P, Warfield AT, Paisey R, Barrett TG, Maffei P, Wang X, Homer V, Kershaw M, Geberhiwot T.   +18 more
europepmc   +1 more source

Ocular Characteristics and Genotype-Oriented Disease Spectrum of Alström Syndrome in Taiwan. [PDF]

Transl Vis Sci Technol
Cheng CC, Lin CY, Ko TC, Huang YS, Huang CH, Yang CH, Ho TC, Chen PL, Chen TC.   +8 more
europepmc   +1 more source