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Alström Syndrome: A Review Focusing on Its Diverse Clinical Manifestations and Their Etiology as a Ciliopathy.
- Published in:
- Yonago Acta Medica, 2024, v. 67, n. 2, p. 93, doi. 10.33160/yam.2024.05.010
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- Publication type:
- Article
Hematopoietic Stem Cell Progenitors Driving Metabolic Disturbance in Alström Syndrome.
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- Endocrinology, 2023, v. 164, n. 9, p. 1, doi. 10.1210/endocr/bqad110
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- Publication type:
- Article
The Alstrom Syndrome: A Rare Cause of Extensive Atrial Fibrosis and Incessant Atrial Tachycardia in the Young.
- Published in:
- Journal of Atrial Fibrillation & Electrophysiology, 2023, v. 16, n. 7, p. 65
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- Publication type:
- Article
Hematopoietic Stem Cells and Metabolic Deterioration in Alström Syndrome, a Rare Genetic Model of the Metabolic Syndrome.
- Published in:
- Endocrinology, 2023, v. 164, n. 3, p. 1, doi. 10.1210/endocr/bqad011
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- Publication type:
- Article
PATAS, a First-in-Class Therapeutic Peptide Biologic, Improves Whole-Body Insulin Resistance and Associated Comorbidities In Vivo.
- Published in:
- 2022
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- Publication type:
- journal article
Wolfram to Alstrom: Analysis of a Diagnostic Error.
- Published in:
- Online Journal of Health & Allied Sciences, 2021, v. 20, n. 2, p. 1
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- Publication type:
- Article
A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat.
- Published in:
- 2021
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- Publication type:
- journal article
Adipose Tissue Malfunction Drives Metabolic Dysfunction in Alström Syndrome.
- Published in:
- 2021
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- Publication type:
- journal article
Cochlear Implants in Alström Syndrome.
- Published in:
- Annals of Otology, Rhinology & Laryngology, 2020, v. 129, n. 8, p. 833, doi. 10.1177/0003489420903061
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- Publication type:
- Article
MORFAN syndrome: A rarity but a reality!
- Published in:
- Indian Journal of Dermatology, 2019, v. 64, n. 3, p. 231, doi. 10.4103/ijd.IJD_160_19
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- Publication type:
- Article
ALMS1 and Alström syndrome: a recessive form of metabolic, neurosensory and cardiac deficits.
- Published in:
- Journal of Molecular Medicine, 2019, v. 97, n. 1, p. 1, doi. 10.1007/s00109-018-1714-x
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- Publication type:
- Article
Treatment with PBI-4050 in patients with Alström syndrome: study protocol for a phase 2, single-Centre, single-arm, open-label trial.
- Published in:
- BMC Endocrine Disorders, 2018, v. 18, n. 1, p. N.PAG, doi. 10.1186/s12902-018-0315-6
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- Publication type:
- Article
ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents.
- Published in:
- Pediatric Diabetes, 2018, v. 19, p. 47, doi. 10.1111/pedi.12772
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- Publication type:
- Article
Functions and dysfunctions of the mammalian centrosome in health, disorders, disease, and aging.
- Published in:
- Histochemistry & Cell Biology, 2018, v. 150, n. 4, p. 303, doi. 10.1007/s00418-018-1698-1
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- Publication type:
- Article
Ophthalmic features of cone‐rod dystrophy caused by pathogenic variants in the ALMS1 gene.
- Published in:
- Acta Ophthalmologica (1755375X), 2018, v. 96, n. 4, p. e445, doi. 10.1111/aos.13612
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- Publication type:
- Article
Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls.
- Published in:
- 2018
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- Publication type:
- journal article
Rare Compound Heterozygous Frameshift Mutations in ALMS1 Gene Identified Through Exome Sequencing in a Taiwanese Patient With Alström Syndrome.
- Published in:
- Frontiers in Genetics, 2018, p. 1, doi. 10.3389/fgene.2018.00110
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- Publication type:
- Article
Neuralgic amyotrophy in the lower extremity diagnosed with gadolinium-enhanced lumbar magnetic resonance imaging: A case report.
- Published in:
- 2017
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- Publication type:
- Case Study
Whole genome sequencing identifies a novel ALMS1 gene mutation in two Chinese siblings with Alström syndrome.
- Published in:
- 2017
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- Publication type:
- Case Study
Refining genotype-phenotype correlation in Alström syndrome through study of primary human fibroblasts.
- Published in:
- Molecular Genetics & Genomic Medicine, 2017, v. 5, n. 4, p. 390, doi. 10.1002/mgg3.296
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- Publication type:
- Article
Alstrom syndrome-a diagnostic dilemma.
- Published in:
- International Journal of Diabetes in Developing Countries, 2017, v. 37, n. 1, p. 88, doi. 10.1007/s13410-016-0520-7
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- Publication type:
- Article
Characterization of Alstrom Syndrome 1 (ALMS1) Transcript Variants in Hodgkin Lymphoma Cells.
- Published in:
- PLoS ONE, 2017, v. 12, n. 1, p. 1, doi. 10.1371/journal.pone.0170694
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- Publication type:
- Article
Advanced non-alcoholic fatty liver disease and adipose tissue fibrosis in patients with Alström syndrome.
- Published in:
- Liver International, 2016, v. 36, n. 11, p. 1704, doi. 10.1111/liv.13163
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- Publication type:
- Article
Theory of Mind and Cognitive Function in Adults with Alström or Usher Syndrome.
- Published in:
- Journal of Visual Impairment & Blindness, 2016, v. 110, n. 5, p. 349, doi. 10.1177/0145482X1611000506
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- Publication type:
- Article
Whole organism transcriptome analysis of zebrafish models of Bardet-Biedl Syndrome and Alström Syndrome provides mechanistic insight into shared and divergent phenotypes.
- Published in:
- BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-2679-1
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- Publication type:
- Article
A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family.
- Published in:
- Clinical Genetics, 2016, v. 89, n. 4, p. 510, doi. 10.1111/cge.12645
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- Publication type:
- Article
High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease.
- Published in:
- 2015
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- Publication type:
- journal article
Identification of Two Cases of Ciliopathy- Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Dual intravitreal foreign body: Intravitreal cilia in penetrating injury.
- Published in:
- Oman Journal of Ophthalmology, 2015, v. 8, n. 3, p. 181, doi. 10.4103/0974-620X.169887
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- Publication type:
- Article
Histopathology of the Human Inner Ear in Alström's Syndrome.
- Published in:
- Audiology & Neurotology, 2015, v. 20, n. 4, p. 267, doi. 10.1159/000381935
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- Publication type:
- Article
Alström syndrome: current perspectives.
- Published in:
- Application of Clinical Genetics, 2015, v. 8, p. 171, doi. 10.2147/TACG.S56612
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- Publication type:
- Article
Alström syndrome: current perspectives.
- Published in:
- Cancer Management & Research, 2015, v. 7, p. 171, doi. 10.2147/TACG.S56612
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- Publication type:
- Article
Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0292-z
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- Publication type:
- Article
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 1, p. 1, doi. 10.1038/jhg.2014.85
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- Publication type:
- Article
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 1, p. 51, doi. 10.1038/jhg.2014.101
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- Publication type:
- Article
Supporting children with Alström syndrome and their family.
- Published in:
- 2014
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- Publication type:
- Opinion
Clinical utility gene card for: Alström Syndrome - update 2013.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1, doi. 10.1038/ejhg.2013.61
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- Publication type:
- Article
Alström syndrome is associated with short stature and reduced GH reserve.
- Published in:
- Clinical Endocrinology, 2013, v. 79, n. 4, p. 529, doi. 10.1111/cen.12180
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- Publication type:
- Article
EURO-WABB: an EU rare diseases registry for Wolfram syndrome, Alström syndrome and Bardet-Biedl syndrome.
- Published in:
- BMC Pediatrics, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2431-13-130
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- Publication type:
- Article
Alström syndrome: A rare association of retinitis pigmentosa with insulin resistance syndrome.
- Published in:
- 2013
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- Publication type:
- Case Study
Brain involvement in Alström syndrome.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-24
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- Publication type:
- Article
Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Report
Poster Presentations Friday 25 January 2013.
- Published in:
- Developmental Medicine & Child Neurology, 2013, v. 55, p. 52, doi. 10.1111/dmcn.12070
- Publication type:
- Article
Alström syndrome: a paradigm for diffuse fibrosis and clinical progression.
- Published in:
- 2013
- By:
- Publication type:
- Abstract
Atypical presentation and a novel mutation in ALMS1: implications for clinical and molecular diagnostic strategies for Alström syndrome.
- Published in:
- Clinical Genetics, 2013, v. 83, n. 1, p. 96, doi. 10.1111/j.1399-0004.2012.01883.x
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- Publication type:
- Article
Management of cervical myelopathy due to ossification of posterior longitudinal ligament in a patient with Alström syndrome.
- Published in:
- European Spine Journal, 2012, v. 21, n. 12, p. 2418, doi. 10.1007/s00586-012-2305-0
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- Publication type:
- Article
Expert's comment concerning Grand Rounds case entitled 'Management of cervical myelopathy due to ossification of posterior longitudinal ligament in a patient with Alström syndrome' (by Bronek M. Boszczyk, Rishi Mugesh Kanna and Daniela Gradil).
- Published in:
- European Spine Journal, 2012, v. 21, n. 12, p. 2425, doi. 10.1007/s00586-012-2304-1
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- Publication type:
- Article
ALSTRÖM SENDROMULU İKİ KARDEŞ OLGU.
- Published in:
- Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi, 2012, v. 6, n. 4, p. 232
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- Publication type:
- Article
Contact dermatitis in Alstroemeria workers.
- Published in:
- Occupational Medicine, 1998, v. 48, n. 6, p. 397, doi. 10.1093/occmed/48.6.397
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- Publication type:
- Article