Results 151 to 160 of about 889,739 (199)

COMPARATIVE ANALYSIS OF WOLFRAM AND ALSTROM SYNDROMES

Alieva Anna Valerovna, Salikhova Zebo Abdulzokhid Kizi, Ismoilova Nazokat Egamberdi Kizi, Nazarova Bakhora Uktamovna   +3 more
openaire   +2 more sources

Alström syndrome-wide clinical variability within the same variant: a case report and literature review. [PDF]

Front Pediatr
Jecan-Toader D, Trifa A, Lucian B, Pop TL, Cainap SS.   +4 more
europepmc   +1 more source

Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy. [PDF]

Yonago Acta Med
Hanaki K, Kinoshita T, Fujimoto M, Sonoyama-Kawashima Y, Kanzaki S, Namba N.   +5 more
europepmc   +1 more source

Effectiveness of the Dual GIP/GLP1-Agonist Tirzepatide in 2 Cases of Alström Syndrome, a Rare Obesity Syndrome.

J Clin Endocrinol Metab
Ferch M, Peitsch I, Kautzky-Willer A, Greber-Platzer S, Stättermayer AF, Krebs M, Scherer T.   +6 more
europepmc   +1 more source

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

Dis Model Mech
McKay EJ, Luijten I, Broadway-Stringer S, Thomson A, Weng X, Gehmlich K, Gray GA, Semple RK.   +7 more
europepmc   +1 more source

Mesenchymal-specific Alms1 knockout in mice recapitulates metabolic features of Alström syndrome. [PDF]

Mol Metab
McKay EJ, Luijten I, Weng X, Martinez de Morentin PB, De Frutos González E, Gao Z, Kolonin MG, Heisler LK, Semple RK.   +8 more
europepmc   +1 more source

A Case of Siblings with End-Stage Kidney Disease and Retinal Degeneration Suggestive of Partial Alström Syndrome.

Nephron
Shinkawa K, Ishii A, Kimura T, Toriu N, Nakagawa N, Wada T, Sakai K, Endo S, Yokoi H, Matsubara T, Kosaki K, Kosugi S, Yanagita M.   +12 more
europepmc   +1 more source

Whole-exome sequencing revealed a novel mutation of the ALMS1 gene in a Chinese family with Alström syndrome: a case report. [PDF]

BMC Pediatr
Hu M, Chen S, Wu J, Wang R.
europepmc   +1 more source

ALSTROM Syndrome (Cases presentation and review of literature)

International Journal of Pediatrics and Neonatal Health, 2017
openaire   +1 more source

Alström Syndrome: A Challenging Case Study of a Female Saudi Patient With Type 2 Diabetes Mellitus and Complete Vision Loss. [PDF]

Cureus
Alamri AS, Mahmoud HA, Abu Alnasr AA, Alahmadi AK, Qari YH.   +4 more
europepmc   +1 more source