Research data supporting ''Defining puberty and spectrum of hypogonadism in Alström Syndrome'' [PDF]
The data in the supplementary file supporting manuscript tilted,''Defining puberty and spectrum of hypogonadism in Alström Syndrome'' consists of 2 supplementary figures and 2 supplementary ...
Ali, Sadaf, DaSilvaXavier, Gabriela
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Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort
Clinical Genetics, Volume 108, Issue 5, Page 532-552, November 2025.This study analyzes 94 IRD patients from a Turkish cohort using a 141‐gene NGS panel, achieving a 74% diagnostic yield. The identification of 28 novel variants highlights the genetic diversity of IRDs in Türkiye and underscores the value of population‐specific molecular testing.
Şenol Demir +7 more
wiley +1 more source
Current management of Alström syndrome and recent advances in treatment
, 2016 Introduction: Alström syndrome is a recessively inherited condition (OMIM 203800) characterised by dual sensory loss, type 2 diabetes, coronary artery disease, organ fibrosis, and smooth muscle dysfunction. Areas covered: This paper covers family support,
K. Leeson-Beevers (2812885) +1 more
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The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey. [PDF]
, 2015 Alström 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 ...
Üstün, İhsan +27 more
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Degeneration and plasticity of the optic pathway in alström syndrome.
, 2015 BACKGROUND AND PURPOSE: Alström syndrome is a rare inherited ciliopathy in which early progressive cone-rod dystrophy leads to childhood blindness. We investigated functional and structural changes of the optic pathway in Alström syndrome by using MR ...
Di Salle, F +11 more
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Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.
, 2013 Alström syndrome is a rare disorder typified by early childhood obesity, neurosensory deficits, cardiomyopathy, progressive renal and hepatic dysfunction, and endocrinological features such as severe insulin resistance, type 2 diabetes, hyperlipidemia ...
Milenković, Tatjana +10 more
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Growth hormone deficiency in two siblings with Alström syndrome.
, 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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Purpose:Alström syndrome is a rare autosomal recessive monogenic ciliopathy, which is caused by a mutation of the Alström syndrome 1 gene. It is a multisystemic disorder characterized by insulin resistance, childhood obesity, cardiomyopathy, progressive ...
Afrashi, Filiz +5 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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Nyheter 2020 - rapport 3 : företagsstrategier,reklamutveckling och konsumenternas livsstilar
, 2004 Innehåll: Börje Alström & Lowe Hedman: Projektet nyheter 2020 Börje Alström & Lowe Hedman: Ett medieföretags förutsättningar Börje Alström & Lowe Hedman: Reklamen i dagspressen Asta Cepaite: Förändringar i livsstilar - förändringar i ...
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