Results 11 to 20 of about 1,912 (196)

Alstrom Syndrome with Novel ALMS1 Mutations: A Case Report [PDF]

Experimental and Clinical Endocrinology & Diabetes Reports, 2017
Abstract Objective To report novel mutations of ALMS1 and evaluate clinical characteristics in the Chinese Child with Alstrom syndrome (ALMS). Methods The Child and his parents were examined clinically and venous blood was collected. ALMSl gene analysis was carried out using DNA Sanger sequencing.
Lanrong Liu
exaly   +4 more sources

Alstrom syndrome: A rare genetic disorder and its anaesthetic significance [PDF]

Indian Journal of Anaesthesia, 2010
Alstrom syndrome is a rare autosomal recessive disorder that was first described in 1959, by Carl Henry Alstrom, characterised by multiorgan system involvement ranging from ocular, aural, endocrinal, hepatorenal, gastrointestinal, respiratory and cardiac
Akhilesh Tiwari, Disha Awasthi, Swapnil Tayal, S Ganguly   +3 more
doaj   +4 more sources

Alstrom syndrome (OMIM 203800): a case report and literature review [PDF]

Orphanet Journal of Rare Diseases, 2007
Background Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss.
Hegele Robert A, Charlton-Menys Valentine, Malik Rayaz, Black Graeme, Cao Henian, Joy Tisha, Durrington Paul N   +6 more
doaj   +7 more sources

Alstrom syndrome: A case report. [PDF]

Journal of Oral Science, 2001
Alstrom syndrome is a rare disorder characterized by early obesity, loss of central vision, diabetes mellitus, hearing loss and short stature. Previous studies, have reported no information regarding oral findings. This article describes oral findings in two cases of Alstrom syndrome.
Koray, Fatma, Dorter, Can, Benderli, Yasemin, Satman, Ílhan, Yilmaz, Temel, Dinccag, Nevin, Karsidag, Kubilay   +6 more
openaire   +4 more sources

New variants of ALMS1 gene and familial Alström syndrome case series [PDF]

Brazilian Journal of Otorhinolaryngology
Objectives: To report two new variants of ALMS1 gene and to discuss the audiological evolution and clinical phenotype in two pairs of siblings with Alström syndrome.
Isabela Carvalho de Queiroz, Natália Carasek, Luiza Costa Villela Ferreira, Lucas Alves Teixeira Oliveira, Fernando Massa Correia, Thaís Gomes Abrahão Elias, Fayez Bahmad, Jr   +6 more
doaj   +2 more sources

Knowledge mapping of alström syndrome research: a bibliometric and visualization analysis based on WoS data from 2000 to 2025 [PDF]

Frontiers in Genetics
Alström syndrome (ALMS) is an ultra-rare autosomal recessive disorder caused by mutations in the ALMS1 gene, leading to a complex spectrum of multi-organ failure, including early-onset sensory loss, obesity, and cardiomyopathy.
Heng Zhang, Heng Zhang, Hang Fu, Xiaohui Sui, Shangan Si, Yuan Zhang, Kaifeng Li, Mengran Wang, Zhe Song, Yuxin Yang, Ziqi Liu, Guiju Zhang   +11 more
doaj   +2 more sources

Alström syndrome: the journey to diagnosis [PDF]

Orphanet Journal of Rare Diseases
Background Alström syndrome (AS) is a recessively inherited genetic condition which is ultra-rare and extremely complex. Symptoms include retinal dystrophy, nystagmus, photophobia, hearing loss, obesity, insulin resistance, diabetes and cardiomyopathy ...
Akshat Sinha, Kerry Leeson-Beevers, Catherine Lewis, Elizabeth Loughery, Tarekegn Geberhiwot   +4 more
doaj   +2 more sources

Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells. [PDF]

PLoS ONE, 2017
The Alstrom syndrome gene (ALMS1) is one of the largest disease associated genes identified today in the human genome and is implicated in cell cycle control, ciliogenesis, endosome recycling and intracellular transport mechanisms.
Katarina Braune, Ines Volkmer, Martin S Staege   +2 more
doaj   +3 more sources

Characteristic findings of alstrom syndrome with a case report

Open Journal of Clinical Diagnostics, 2013
Alstrom Syndrome is an autosomal recessive genetic disorder affecting multiple systems. The characteristic features of this syndrome are obesity, type 2 diabetes mellitus, rod-cone dystrophy, hearing loss. Developmental delay, nistagmus, dilated cardiomyopathy, hypertension, recurrent pulmonary infections, short stature, hepatic and renal failure ...
SILAN, FATMA, ÖZDEMİR, ÖZTÜRK, ULUDAĞ, AHMET, YALÇINTEPE, SİNEM, GÜR, SAVAŞ, ÜKİNÇ, KUBİLAY, KADIOGLU, LALIZ ESIN   +6 more
exaly   +4 more sources

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

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   +2 more sources