Results 121 to 130 of about 889,739 (199)

Alstrom Syndrome [PDF]

, 2020
openaire   +1 more source

Spectrum of genetic forms of obesity and related disorders: Prader-Willi-like syndromes (part 1)

Ожирение и метаболизм
Prader–Willi–like syndromes (PWLS) represent a heterogeneous group of disorders characterized by a set of key clinical features, including muscular hypotonia, obesity, psychomotor and speech developmental delay, and behavioral problems, in the absence of
E. G. Panchenko, E. P. Atavina-Ermakova, A. F. Nikolaeva, T. V. Boyko, O. V. Vasyukova, D. A. Kopytina, N. G. Mokrysheva, S. I. Kutsev   +7 more
doaj   +1 more source

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alstrom syndrome [PDF]

Alstrom syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone-rod retinal dystrophy, cardiomyopathy and type 2 diabetes mellitus, that has been mapped to chromosome 2p13 (refs 1-5).
Walker M; Hanley NA; Renforth GL; Wilson DI; Piper K; Connolly V; Hearn T; Spalluto C; Brickwood S; White C; Taylor JFN; Russell-Eggitt I; Bonneau D
core  

Hypertension precedes metabolic syndrome in the alms1 (alstrom syndrome 1) knockout rat [PDF]

, 2018
We previously found that Alstrom syndrome 1 protein (ALMS1) is expressed in the kidney where it regulates thick ascending limb (TAL) NaCl reabsorption by controlling NKCC2 endocytosis.
Ortiz, Pablo A, King-Medina, Keyona N
core  

Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis. [PDF]

J Med Genet, 2023
Bea-Mascato B, Valverde D.
europepmc   +1 more source

ALSTROM SYNDROME: A CASE REPORT

Journal of Evolution of Medical and Dental Sciences, 2015
Shivakumar B R, Hareesh R, Rekha G
openaire   +1 more source

Type 1 Diabetes Mellitus in a Child With Genetically Confirmed Alström Syndrome: An Unusual Autoimmune Phenotype. [PDF]

Cureus
Alquraishi AS, Al Alammar N, Saad MM, Alqahtani RA.   +3 more
europepmc   +1 more source

Alström Syndrome: A Rare Cause of Severe Insulin Resistance. [PDF]

JCEM Case Rep, 2023
Radi S, Binmahfooz S, Nawar S, Malaikah H.   +3 more
europepmc   +1 more source

Case Report: Identification of two novel <i>ALMS1</i> variants in a patient with a ciliopathy resembling Alström syndrome. [PDF]

Front Genet
Ran CQ, Yang M, Chen L, Liu X.
europepmc   +1 more source

Nursing Management of Repeated Extubation Failure Following Colonic Volvulus Surgery in a Patient with Alstrom Syndrome: A Case Report. [PDF]

J Inflamm Res
Shen Y, Chen Y, Fu X, Jiang W, Li J.
europepmc   +1 more source