The human obesity gene map: the 2005 update
T Rankinen, A Zuberi, YC Chagnon, SJ Weisnagel… - …, 2006 - Wiley Online Library
This paper presents the 12th update of the human obesity gene map, which incorporates
published results up to the end of October 2005. Evidence from single‐gene mutation …
published results up to the end of October 2005. Evidence from single‐gene mutation …
Alström syndrome: insights into the pathogenesis of metabolic disorders
D Girard, N Petrovsky - Nature Reviews Endocrinology, 2011 - nature.com
Genetic causes of obesity include the ciliopathies Alström syndrome and Bardet–Biedl
syndrome. In these disorders, mutations cause dysfunction of the primary cilium, an …
syndrome. In these disorders, mutations cause dysfunction of the primary cilium, an …
Consensus clinical management guidelines for Alström syndrome
N Tahani, P Maffei, H Dollfus, R Paisey… - Orphanet journal of rare …, 2020 - Springer
Alström Syndrome (ALMS) is an ultra-rare multisystem genetic disorder caused by
autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13 …
autosomal recessive variants in the ALMS1 gene, which is located on chromosome 2p13 …
Alström syndrome
JD Marshall, S Beck, P Maffei, JK Naggert - European Journal of Human …, 2007 - nature.com
Alström Syndrome is an autosomal recessive, single gene disorder caused by mutations in
ALMS1 (Chr 2p13), a novel gene of currently unknown molecular function. Alström …
ALMS1 (Chr 2p13), a novel gene of currently unknown molecular function. Alström …
The human obesity gene map: the 2004 update
This paper presents the eleventh update of the human obesity gene map, which
incorporates published results up to the end of October 2004. Evidence from single‐gene …
incorporates published results up to the end of October 2004. Evidence from single‐gene …
Alström Syndrome: Mutation Spectrum of ALMS1
JD Marshall, J Muller, GB Collin, G Milan… - Human …, 2015 - Wiley Online Library
Alström Syndrome (ALMS), a recessive, monogenic ciliopathy caused by mutations in
ALMS1, is typically characterized by multisystem involvement including early cone‐rod …
ALMS1, is typically characterized by multisystem involvement including early cone‐rod …
Alms1-disrupted mice recapitulate human Alström syndrome
GB Collin, E Cyr, R Bronson, JD Marshall… - Human molecular …, 2005 - academic.oup.com
Mutations in the human ALMS1 gene cause Alström syndrome (AS), a progressive disease
characterized by neurosensory deficits and by metabolic defects including childhood …
characterized by neurosensory deficits and by metabolic defects including childhood …
Spectrum of ALMS1 variants and evaluation of genotype‐phenotype correlations in Alström syndrome
JD Marshall, EG Hinman, GB Collin, S Beck… - Human …, 2007 - Wiley Online Library
Alström syndrome is a monogenic recessive disorder featuring an array of clinical
manifestations, with systemic fibrosis and multiple organ involvement, including retinal …
manifestations, with systemic fibrosis and multiple organ involvement, including retinal …
Syndromic Obesity and Diabetes: Changes in Body Composition with Age and Mutation Analysis of ALMS1 in 12 United Kingdom Kindreds with Alström Syndrome
JAL Minton, KR Owen, CJ Ricketts… - The Journal of …, 2006 - academic.oup.com
Context: Alström syndrome (AS) is a monogenic form of infancy-onset obesity and insulin
resistance, caused by ALMS1 mutations. The natural history of the insulin resistance is …
resistance, caused by ALMS1 mutations. The natural history of the insulin resistance is …
Alström syndrome: current perspectives
M Álvarez-Satta, S Castro-Sánchez… - The application of …, 2015 - Taylor & Francis
Alström syndrome (ALMS) is a rare genetic disorder that has been included in the
ciliopathies group, in the last few years. Ciliopathies are a growing group of diseases …
ciliopathies group, in the last few years. Ciliopathies are a growing group of diseases …