Results 121 to 130 of about 3,214 (198)

LncRNA ALMS1-IT1 is a novel prognostic biomarker and correlated with immune infiltrates in colon adenocarcinoma

, 2022
Yuning Lin, Ying Li, Yongquan Chen, Zhongying Zhang   +3 more
openalex   +1 more source

Abstract

JPGN Reports, Volume 6, Issue S2, Page S1-S814, September 2025.
wiley   +1 more source

Whole-Genome Sequencing Identifies Novel Heterozygous Mutation in ALMS1 in Three Men With Both Peyronie's and Dupuytren's Disease

, 2022
Alexandra Dullea, Iakov Efimenko, Fakiha Firdaus, Anthony J. Griswold, Himanshu Arora, Thomas A. Masterson, Ranjith Ramasamy   +6 more
openalex   +2 more sources

Alström syndrome: current perspectives

The Application of Clinical Genetics, 2015
María Álvarez-Satta, Sheila Castro-Sánchez, Diana Valverde Departamento de Bioquímica, Genética e Inmunología, Facultad de Biología, Universidad de Vigo, Vigo, Spain Abstract: Alström syndrome (ALMS)
Álvarez-Satta M, Castro-Sánchez S, Valverde D   +2 more
doaj  

Reliability of Semiautomated Kinetic Perimetry (SKP) and Goldmann Kinetic Perimetry in Children and Adults With Retinal Dystrophies. [PDF]

, 2019
PurposeTo investigate the precision of visual fields (VFs) from semiautomated kinetic perimetry (SKP) on Octopus 900 perimeters, for children and adults with inherited retinal degenerations (IRDs).
Barnes, Claire S, Birch, David G, Bittner, Ava K, Dagnelie, Gislin, Koenekoop, Robert K, Schuchard, Ronald A, Wood, Leah   +6 more
core   +1 more source

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome [PDF]

, 2017
Bardet-Biedl syndrome is a rare autosomal recessive, multisystem disease characterized by retinal dystrophy, renal malformation, obesity, intellectual disability, polydactyly, and hypogonadism.
Barrett, T, Beales, PL, Best, S, Bockenhauer, D, Borrows, S, Foggensteiner, L, Forsythe, E, Goldsmith, D, Hoskins, B, Milford, DV, Mohammed, S, Sabir, A, Sparks, K, Williams, D   +13 more
core  

Female Alms1-deficient mice develop echocardiographic features of adult but not infantile Alström Syndrome cardiomyopathy [PDF]

, 2023
Eleanor J. McKay, Ineke Luijten, Adrian Thomson, Xiong Weng, Katya Gehmlich, Gillian A. Gray, Robert K. Semple   +6 more
openalex   +1 more source

ALMS1–NKCC2 interactions [PDF]

Nature Reviews Nephrology, 2018
openaire   +2 more sources

Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes [PDF]

, 2016
Norann A. Zaghloul, Sukanya Lodh, Timothy L. Hostelley   +2 more
core   +1 more source

Infantile Dilated Cardiomyopathy Diagnosed as Alstrom Syndrome in Later Childhood: A Report of Two Siblings

Indian Pediatrics Case Reports
Background: Alstrom syndrome is a rare autosomal recessive multisystem disorder due to a mutation in the ALMS1 gene, characterized by various combinations of dilated cardiomyopathy (DCM), cone-rod dystrophy, hearing loss, childhood obesity, Type 2 ...
Vimalarani Arulselvam, Suad Al Amer, Neale Nicola Kalis   +2 more
doaj   +1 more source