Alström syndrome: insights into the pathogenesis of metabolic disorders (Q37816944)

23 August 2017

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title

Alström syndrome: insights into the pathogenesis of metabolic disorders (English)

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23 August 2017

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2

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author name string

Dorothée Girard

series ordinal

1

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23 August 2017

7 December 2010

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Nature Reviews Endocrinology

23 August 2017

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23 August 2017

7

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23 August 2017

2

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23 August 2017

77-88

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https://scigraph.springernature.com/pub.10.1038/nrendo.2010.210

23 August 2017

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cites work

Recent advances in the molecular pathology, cell biology and genetics of ciliopathies

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Ciliary biology: understanding the cellular and genetic basis of human ciliopathies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

The Ciliopathies: An Emerging Class of Human Genetic Disorders

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Making sense of cilia in disease: the human ciliopathies.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Proteomic characterization of the human centrosome by protein correlation profiling

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

The retinal ciliopathies.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

New Alström syndrome phenotypes based on the evaluation of 182 cases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Evaluation of insulin resistant diabetes mellitus in Alström syndrome: a long-term prospective follow-up of three siblings

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Body fat distribution, serum glucose, lipid and insulin response to meals in Alström syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Hypertriglyceridaemia in Alström's syndrome: causes and associations in 37 cases

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Alström syndrome with acute pancreatitis: a case report.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Hepatic dysfunction in Alström disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Characterization of the IGF system in 15 patients with Alström syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Impaired IGF1-GH axis and new therapeutic options in Alström Syndrome patients: a case series

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Alström syndrome: progressive deafness and blindness

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Alström syndrome. Report of 22 cases and literature review.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Protection from clinical peripheral sensory neuropathy in Alström syndrome in contrast to early-onset type 2 diabetes

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Case of Alström syndrome with late presentation dilated cardiomyopathy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Cardiac magnetic resonance imaging in Alström syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Cardiac manifestations of Alström syndrome: echocardiographic findings.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Is arterial stiffening in Alström syndrome linked to the development of cardiomyopathy?

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Molecular analysis and long-term clinical evaluation of three siblings with Alström syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Alström syndrome: intrafamilial phenotypic variability in sibs with a novel nonsense mutation of the ALMS1 gene.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Homozygosity mapping at Alström syndrome to chromosome 2p

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Alström syndrome: further evidence for linkage to human chromosome 2p13.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Alstrom syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

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

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Lack of association between gene variants in the ALMS1 gene and Type 2 diabetes mellitus

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Common variations in the ALMS1 gene do not contribute to susceptibility to type 2 diabetes in a large white UK population.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

The centrosome in human genetic disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

An incredible decade for the primary cilium: a look at a once-forgotten organelle

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

When cilia go bad: cilia defects and ciliopathies

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Centriole/basal body morphogenesis and migration during ciliogenesis in animal cells

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Cilia and the ciliopathies: an introduction

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Characterization of the intraflagellar transport complex B core: direct interaction of the IFT81 and IFT74/72 subunits

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

31 March 2020

Intraflagellar transport

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Taking vesicular transport to the cilium

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Trafficking, development and hedgehog

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Polycystic kidney disease and the renal cilium.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

The renal cell primary cilium functions as a flow sensor

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

The emerging complexity of the vertebrate cilium: new functional roles for an ancient organelle

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

The vertebrate primary cilium in development, homeostasis, and disease

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

The primary cilium in cell signaling and cancer

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

The primary cilium as the cell's antenna: signaling at a sensory organelle

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Intraflagellar transport: it's not just for cilia anymore

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

The proteome of the mouse photoreceptor sensory cilium complex

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Piecing together a ciliome

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Fat aussie--a new Alström syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Adaptive failure to high-fat diet characterizes steatohepatitis in Alms1 mutant mice.

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

The hormonal control of food intake

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

The central melanocortin system and the integration of short- and long-term regulators of energy homeostasis

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Central nervous system control of food intake

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Alms1-disrupted mice recapitulate human Alström syndrome

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Mutant rab8 Impairs docking and fusion of rhodopsin-bearing post-Golgi membranes and causes cell death of transgenic Xenopus rods

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Roles of adipose restriction and metabolic factors in progression of steatosis to steatohepatitis in obese, diabetic mice

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Triggering and augmentation mechanisms, granule pools, and biphasic insulin secretion

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Requirement of Bardet-Biedl syndrome proteins for leptin receptor signaling

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Disruption of intraflagellar transport in adult mice leads to obesity and slow-onset cystic kidney disease

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Cilia biology: stop overeating now!

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Hippocampal neurons possess primary cilia in culture.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Neuronal primary cilia: a review

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

The neuronal primary cilium--an extrasynaptic signaling device

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Can faulty antennae increase adiposity? The link between cilia proteins and obesity.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Ciliary dysfunction and obesity

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

CentrosomeDB: a human centrosomal proteins database

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Cildb: a knowledgebase for centrosomes and cilia.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Intraflagellar transport is required for polarized recycling of the TCR/CD3 complex to the immune synapse

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Localization of 5-HT(6) receptors at the plasma membrane of neuronal cilia in the rat brain

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Selective targeting of somatostatin receptor 3 to neuronal cilia

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

The vertebrate primary cilium is a sensory organelle

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Developmental changes in frequency of the ciliary somatostatin receptor 3 protein

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Beta1-integrins in the primary cilium of MDCK cells potentiate fibronectin-induced Ca2+ signaling

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Vasopressin receptor-mediated functional signaling pathway in primary cilia of renal epithelial cells

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

DISC1 regulates primary cilia that display specific dopamine receptors

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Growth arrest induces primary-cilium formation and sensitizes IGF-1-receptor signaling during differentiation induction of 3T3-L1 preadipocytes

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Knockdown of the Alström syndrome-associated gene Alms1 in 3T3-L1 preadipocytes impairs adipogenesis but has no effect on cell-autonomous insulin action

31 March 2020

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Cep164, a novel centriole appendage protein required for primary cilium formation

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Transcriptional regulation of the Alström syndrome gene ALMS1 by members of the RFX family and Sp1

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

The transcription factor RFX3 directs nodal cilium development and left-right asymmetry specification

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Conserved function for embryonic nodal cilia.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Determination of left–right patterning of the mouse embryo by artificial nodal flow

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Three new cases of Alström syndrome

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Effect of metformin and rosiglitazone in a prepubertal boy with Alström syndrome

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

New insights and therapies for the metabolic consequences of Alström syndrome

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Impaired glucose tolerance leads to delayed diagnosis of Alström syndrome

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Caloric restriction in Alström syndrome prevents hyperinsulinemia.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Heart-lung transplantation in a 14-year-old boy with Alström syndrome

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Levosimendan for bridging in a pediatric patient with Alström syndrome awaiting heart-lung transplantation.

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2010.210

Targeted disruption of the melanin-concentrating hormone receptor-1 results in hyperphagia and resistance to diet-induced obesity.

31 March 2020

1 reference

12 December 2020

Regulation of Alström syndrome gene expression during adipogenesis and its relationship with fat cell insulin sensitivity.

1 reference

12 December 2020

Insulin resistance and the polycystic ovary syndrome: mechanism and implications for pathogenesis

1 reference

12 December 2020

Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on

1 reference

12 December 2020

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

1 reference

12 December 2020

Cilia, Alström syndrome--molecular mechanisms and therapeutic perspectives

1 reference

12 December 2020

Hepatic dysfunction in two sibs with Alström syndrome: case report and review of the literature

1 reference

12 December 2020

1 reference

12 December 2020

Metabolic effects of growth hormone therapy in an Alström syndrome patient

1 reference

12 December 2020

The Alström syndrome. Report of three cases with further delineation of the clinical, pathophysiological, and genetic aspects of the disorder

1 reference

12 December 2020

Ophthalmologic and systemic features of the Alström syndrome: report of 9 cases.

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12 December 2020

Identifiers

DOI

10.1038/NRENDO.2010.210

1 reference

PubMed ID

21135875

Dimensions Publication ID

23 August 2017

0 references

1 reference

PubMed ID

21135875