Related references
Note: Only part of the references are listed.Genetic evaluation of patients with Alstrom syndrome in the Polish population
A. Zmyslowska et al.
CLINICAL GENETICS (2016)
ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy
Y. Xu et al.
CLINICAL GENETICS (2016)
Aspects of learning from the perspective of people with Alstrom syndrome
Berit Ronnasen et al.
DISABILITY AND REHABILITATION (2016)
Differential effects on β-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes
Sukanya Lodh et al.
HUMAN MOLECULAR GENETICS (2016)
The Enhanced liver fibrosis score is associated with clinical outcomes and disease progression in patients with chronic liver disease
Katharine M. Irvine et al.
LIVER INTERNATIONAL (2016)
Recent Clinical Drug Trials Evidence in Marfan Syndrome and Clinical Implications
Michael N. Singh et al.
CANADIAN JOURNAL OF CARDIOLOGY (2016)
Pituitary morphovolumetric changes in Alstrom syndrome
Valentina Citton et al.
JOURNAL OF NEURORADIOLOGY (2016)
Alstrom Syndrome: Mutation Spectrum of ALMS1
Jan D. Marshall et al.
HUMAN MUTATION (2015)
Duration of Diabetes Predicts Aortic Pulse Wave Velocity and Vascular Events in Alstrom Syndrome
Richard B. Paisey et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2015)
Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alstrom Syndrome: an observational study
Nicola C. Edwards et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease
Stephanie Van Groenendael et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
Improvement in vision: a new goal for treatment of hereditary retinal degenerations
Samuel G. Jacobson et al.
EXPERT OPINION ON ORPHAN DRUGS (2015)
The phenotypic and molecular genetic spectrum of Alstrom syndrome in 44 Turkish kindreds and a literature review of Alstrom syndrome in Turkey
Aysegul Ozanturk et al.
JOURNAL OF HUMAN GENETICS (2015)
Modification of severe insulin resistant diabetes in response to lifestyle changes in Alstrom syndrome
Richard B. Paisey et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2014)
Basal body proteins regulate Notch signaling through endosomal trafficking
Carmen C. Leitch et al.
JOURNAL OF CELL SCIENCE (2014)
Mutations in Alstrom protein impair terminal differentiation of cardiomyocytes
Lincoln T. Shenje et al.
NATURE COMMUNICATIONS (2014)
The clinical utility of C-peptide measurement in the care of patients with diabetes
A. G. Jones et al.
DIABETIC MEDICINE (2013)
Cardiovascular Effects of Intensive Lifestyle Intervention in Type 2 Diabetes
Rena Wing et al.
NEW ENGLAND JOURNAL OF MEDICINE (2013)
Brain involvement in Alstrom syndrome
Valentina Citton et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Coronary artery disease in Alstrom syndrome
Kumar Jatti et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2012)
The Alstrom Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway
Gayle B. Collin et al.
PLOS ONE (2012)
The progression from obesity to type 2 diabetes in Alstrom syndrome
Vera Bettini et al.
PEDIATRIC DIABETES (2012)
Safety and Efficacy of Aliskiren in the Treatment of Hypertension and Associated Clinical Conditions
Fabio Angeli et al.
CURRENT DRUG SAFETY (2012)
Postprandial serum C-peptide to plasma glucose ratio as a predictor of subsequent insulin treatment in patients with type 2 diabetes
Yoshifumi Saisho et al.
ENDOCRINE JOURNAL (2011)
Alstrom Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity
Daniel Jagger et al.
HUMAN MOLECULAR GENETICS (2011)
ALMS1-Deficient Fibroblasts Over-Express Extra-Cellular Matrix Components, Display Cell Cycle Delay and Are Resistant to Apoptosis
Elisabetta Zulato et al.
PLOS ONE (2011)
Presentation and course of diabetes in children and adolescents with Alstrom syndrome
Arati Mokashi et al.
PEDIATRIC DIABETES (2011)
Rare disorders presenting in the diabetic clinic: an example using audit of the NSCT adult Alstrom clinics
R. B. Paisey et al.
PRACTICAL DIABETES (2011)
Alstrom syndrome: A rare genetic disorder and its anaesthetic significance
Akhilesh Tiwari et al.
INDIAN JOURNAL OF ANAESTHESIA (2010)
Allelic Heterogeneity in Inbred Populations: The Saudi Experience With Alstrom Syndrome as an Illustrative Example
Mohamed A. Aldahmesh et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Caloric Restriction in Alstrom Syndrome Prevents Hyperinsulinemia
Ni-Chung Lee et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Alstrom Syndrome and Cecal Volvulus in 2 Siblings
Eric Y. H. Khoo et al.
AMERICAN JOURNAL OF THE MEDICAL SCIENCES (2009)
New insights and therapies for the metabolic consequences of Alstrom syndrome
Richard Bayley Paisey
CURRENT OPINION IN LIPIDOLOGY (2009)
Protection From Clinical Peripheral Sensory Neuropathy in Alstrom Syndrome in Contrast to Early-Onset Type 2 Diabetes
Richard B. Paisey et al.
DIABETES CARE (2009)
10-year follow-up of diabetes incidence and weight loss in the Diabetes Prevention Program Outcomes Study
G. A. Bray et al.
LANCET (2009)
Cardiac magnetic resonance imaging in Alstrom syndrome
Margaret A. Loudon et al.
ORPHANET JOURNAL OF RARE DISEASES (2009)
Levosimendan for bridging in a pediatric patient with Alstrom syndrome awaiting heart-lung transplantation
Marc-Phillip Hitz et al.
CLINICAL RESEARCH IN CARDIOLOGY (2008)
Body fat distribution, serum glucose, lipid and insulin response to meals in Alstrom syndrome
R. B. Paisey et al.
JOURNAL OF HUMAN NUTRITION AND DIETETICS (2008)
Alstrom syndrome (OMIM 203800): a case report and literature review
Tisha Joy et al.
ORPHANET JOURNAL OF RARE DISEASES (2007)
Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alstrom syndrome
Jan D. Marshall et al.
HUMAN MUTATION (2007)
Molecular analysis and long-term clinical evaluation of three siblings with Alstrom syndrome
R. K. Oezguel et al.
CLINICAL GENETICS (2007)
Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10
Dominic R. A. White et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2007)
Characterization of the IGF system in 15 patients with Alstrom syndrome
Pietro Maffei et al.
CLINICAL ENDOCRINOLOGY (2007)
A role for Alstrom syndrome protein, Alms1, in kidney ciliogenesis and cellular quiescence
Guochun Li et al.
PLOS GENETICS (2007)
Sustained reduction in the incidence of type 2 diabetes by lifestyle intervention:: follow-up of the Finnish Diabetes Prevention Study
Jaana Lindstrom et al.
LANCET (2006)
Alstrom syndrome in four sibs from northern Jordan
Hanan Hamamy et al.
ANNALS OF SAUDI MEDICINE (2006)
Syndromic obesity and diabetes:: Changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome
J. A. L. Minton et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)
Fat Aussie -: A new Alstrom syndrome mouse showing a critical role for ALMS1 in obesity, diabetes, and spermatogenesis
Todor Arsov et al.
MOLECULAR ENDOCRINOLOGY (2006)
Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood
E Koç et al.
NEPHROLOGY (2006)
Diagnosis of cirrhosis by transient elastography (FibroScan):: a prospective study
J Foucher et al.
GUT (2006)
Alms1-disrupted mice recapitulate human Alstrom syndrome
GB Collin et al.
HUMAN MOLECULAR GENETICS (2005)
Subcellular localization of ALMS1 supports involvement of centrosome and basal body dysfunction in the pathogenesis of obesity, insulin resistance, and type 2 diabetes
T Hearn et al.
DIABETES (2005)
New Alstrom syndrome phenotypes based on the evaluation of 182 cases
JD Marshall et al.
ARCHIVES OF INTERNAL MEDICINE (2005)
The importance of seeking ALMS1 mutations in infants with dilated cardiomyopathy -: art. no. e10
J Bond et al.
JOURNAL OF MEDICAL GENETICS (2005)
A mild form of Alstrom disease associated with metabolic syndrome and very high fasting serum free fatty acids: Two cases diagnosed in adult age
S Iannello et al.
AMERICAN JOURNAL OF THE MEDICAL SCIENCES (2004)
Hypertriglyceridaemia in Alstrom's syndrome: causes and associations in 37 cases
RB Paisey et al.
CLINICAL ENDOCRINOLOGY (2004)
Early-onset liver disease complicated with acute liver failure in Alstrom syndrome
RE Quiros-Tejeira et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)