Results 91 to 100 of about 2,034 (157)
Nature CommunicationsCiliopathies are genetic disorders characterized by defective primary cilia function, with obesity as a clinical manifestation in certain cases, including Alström syndrome, which is caused by ALMS1 mutations.
Yaiza Corral Nieto +19 more
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Indian Pediatrics Case ReportsBackground: 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 +2 more
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Growth hormone deficiency in two siblings with Alström syndrome. [PDF]
, 1993 OBJECTIVE: To investigate if there is an endocrinologic explanation for the short stature in patients with Alström syndrome. DESIGN: Patient reports. SETTING: The Children\u27s Hospital of Philadelphia, Pa.
Moshang, T, Alter, C A
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Role of Alström syndrome 1 in the regulation of blood pressure and renal function. [PDF]
, 2018 Elevated blood pressure (BP) and renal dysfunction are complex traits representing major global health problems. Single nucleotide polymorphisms identified by genome-wide association studies have identified the Alström syndrome 1 (ALMS1) gene locus to ...
Jaykumar, Ankita Bachhawat +21 more
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ALSTRÖM SYNDROME ASSOCIATED WITH CEREBRAL INVOLVEMENT: AN UNUSUAL PRESENTATION [PDF]
, 2006 Alström syndrome (AS) is a rare autosomal recessive disorder, characterized by retinal degeneration, progressive hearing impairment, truncal obesity and non-insulin dependent diabetes mellitus.
Hüseyin Çaksen +5 more
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Alström Syndrome: Four Case Reports [PDF]
, 2009 A Síndrome de Alström (SA, MIM# 203800) é uma doença hereditária, de transmissão autossómica recessiva, descrita pela primeira vez em 1959, por Alström. O gene ALMS1, causador da doença, foi identificado em 2002 e localiza-se no cromossoma 2p13.
Lourenço, T +7 more
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Síndrome de Alström familiar : série de casos [PDF]
, 2022 Dissertação (mestrado) — Universidade de Brasília, Faculdade de Ciências da Saúde, Programa de Pós-Graduação em Ciências da Saúde, 2022.A síndrome de Alström é rara, com prevalência estimada em 1–9 casos por milhão de indivíduos, com aproximadamente 1 ...
Queiroz, Isabela Carvalho de
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Case Reports in Genetics, 2011 There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of ...
Sheetal Sharda +2 more
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A Case With Renal Failure, Hearing Loss and Double Ureters
Turkish Journal of Nephrology, 2019 In nephrology practice, the association of renal failure and deafness immediately brings to mind the Alport syndrome. However, in the differential diagnosis of deafness and renal failure a great number of syndromes ranging from Alport to Muckle-Wells ...
Kübra KAYNAR +6 more
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Dislipidemia sindromală – raportare de caz clinic a unei familii cu sindrom Alström [PDF]
, 2020 Institute of Mother and Child, Chisinau, Republic of Moldova “Nicolae Testemitanu” State University of Medicine and Pharmacy, Republic of MoldovaСиндром Альстрёма.
Blăniță, Daniela +6 more
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