Results 21 to 30 of about 1,912 (196)

The Phenotypic And Molecular Genetic Spectrum Of Alstrom Syndrome In 44 Turkish Kindreds And A Literature Review Of Alstrom Syndrome In Turkey [PDF]

, 2015
Alstrom syndrome (ALMS) is an autosomal recessive disease characterized by multiple organ involvement, including neurosensory vision and hearing loss, childhood obesity, diabetes mellitus, cardiomyopathy, hypogonadism, and pulmonary, hepatic, renal failure and systemic fibrosis.
Ozanturk, Aysegul, Marshall, Jan D., Collin, Gayle B., Duzenli, Selma, Marshall, Robert P., Candan, Sukru, Tos, Tulay, Esen, Ihsan, Taskesen, Mustafa, Cayir, Atilla, Ozturk, Sukru, Ustun, Ihsan, Ataman, Esra, Karaca, Emin, Ozdemir, Taha Resid, Erol, Ilknur, Eroglu, Fehime Kara, Torun, Deniz, Pariltay, Erhan, Yilmaz-Gulec, Elif, Yilmaz-Gulec, Elif   +20 more
core   +6 more sources

Liver Transplantation in Alstrom Syndrome: A Case Report. [PDF]

Experimental and clinical transplantation : official journal of the Middle East Society for Organ Transplantation
Alstrom syndrome is a genetic disorder with autosomal recessive inheritance and multiple organ failure. Hearing loss, childhood obesity, diabetes mellitus, and nonalcoholic fatty liver disease are common disorders in this disease. Degree of nonalcoholic fatty liver disease ranges from benign steatosis to cirrhosis.
Fuat, Aksoy, Taner, Özgür, Halit Ziya, Dundar, Ekrem, Kaya   +3 more
openaire   +3 more sources

Neovascularization of the optic disc and peripheral retinal ischemia in a child with a novel variant in ALMS1 (Alström syndrome)

American Journal of Ophthalmology Case Reports, 2022
Purpose: The ophthalmologic findings in Alström syndrome include cone-rod dystrophy, optic atrophy, optic disc drusen, and retinal telangiectasias with exudative retinopathy.
Melinda Y. Chang, Mark S. Borchert, Ryan Schmidt, Aaron Nagiel   +3 more
doaj   +1 more source

A Rare Case of Severe Dilated Cardiomyopathy in Early Infancy

The Thoracic & Cardiovascular Surgeon Reports, 2021
We report the case of a 3-month-old girl presenting with end-stage dilated cardiomyopathy and therapy-resistant cardiogenic shock. A left ventricular assist device (LVAD) Berlin Heart EXCOR was implanted, her organs recovered, and she was listed for ...
Meike Schwendt, Johannes Kroll, Thilo Fleck, Brigitte Stiller   +3 more
doaj   +1 more source

A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence. [PDF]

PLoS Genetics, 2007
Premature truncation alleles in the ALMS1 gene are a frequent cause of human Alström syndrome. Alström syndrome is a rare disorder characterized by early obesity and sensory impairment, symptoms shared with other genetic diseases affecting proteins of ...
Guochun Li, Raquel Vega, Keats Nelms, Nicholas Gekakis, Christopher Goodnow, Peter McNamara, Hua Wu, Nancy A Hong, Richard Glynne   +8 more
doaj   +1 more source

Alstrom syndrome in four sibs from northern Jordan [PDF]

Annals of Saudi Medicine, 2006
Hamamy Hanan, Barham Muries, Alkhawaldeh Abd-ElKarim, Cockburn David, Snowden Helen, Ajlouni Kamel   +5 more
doaj   +3 more sources

Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing [PDF]

Diabetes & Metabolism Journal, 2015
BackgroundAlström syndrome and Bardet-Biedl syndrome are autosomal recessively inherited ciliopathies with common characteristics of obesity, diabetes, and blindness.
Min Kyeong Kim, Soo Heon Kwak, Shinae Kang, Hye Seung Jung, Young Min Cho, Seong Yeon Kim, Kyong Soo Park   +6 more
doaj   +1 more source

Alstrom Syndrome [PDF]

, 2020
openaire   +3 more sources

The efficacy and safety of setmelanotide in individuals with Bardet-Biedl syndrome or Alström syndrome: Phase 3 trial design

Contemporary Clinical Trials Communications, 2021
Background: A phase 2 trial has suggested that treatment with the melanocortin-4 receptor (MC4R) agonist setmelanotide is associated with a decrease in hunger and weight-related outcomes in participants with Bardet-Biedl syndrome (BBS) and Alström ...
Robert M. Haws, Gregory Gordon, Joan C. Han, Jack A. Yanovski, Guojun Yuan, Murray W. Stewart   +5 more
doaj   +1 more source

alms1 mutant zebrafish do not show hair cell phenotypes seen in other cilia mutants.

PLoS ONE, 2021
Multiple cilia-associated genes have been shown to affect hair cells in zebrafish (Danio rerio), including the human deafness gene dcdc2, the radial spoke gene rsph9, and multiple intraflagellar transport (IFT) and transition zone genes.
Lauren Parkinson, Tamara M Stawicki
doaj   +1 more source