Alstrom Syndrome

Known as: Alstrom's Syndrome, Alstroms Syndrome, Alstrom Hallgren Syndrome 
Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS… (More)
National Institutes of Health

Papers overview

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Review
2011
Review
2011
Genetic causes of obesity include the ciliopathies Alström syndrome and Bardet–Biedl syndrome. In these disorders, mutations… (More)
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Highly Cited
2010
Highly Cited
2010
OBJECTIVE To compare the efficacy and safety of mycophenolate mofetil (MMF) and intravenous cyclophosphamide (IVC) as induction… (More)
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Highly Cited
2009
Review
2009
Review
2009
Primary ciliary dyskinesia is a genetically heterogeneous disorder of motile cilia. Most of the disease-causing mutations… (More)
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Highly Cited
2007
Highly Cited
2007
Alström Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of… (More)
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Highly Cited
2007
Highly Cited
2007
Premature truncation alleles in the ALMS1 gene are a frequent cause of human Alström syndrome. Alström syndrome is a rare… (More)
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Review
2006
Review
2006
Cilia and flagella are ancient, evolutionarily conserved organelles that project from cell surfaces to perform diverse biological… (More)
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Highly Cited
2005
Highly Cited
2005
Mutations in the human ALMS1 gene cause Alström syndrome (AS), a progressive disease characterized by neurosensory deficits and… (More)
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Highly Cited
2002
Highly Cited
2002
Alström syndrome is a homogeneous autosomal recessive disorder that is characterized by childhood obesity associated with… (More)
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Highly Cited
2002
Highly Cited
2002
Alström syndrome (OMIM 203800) is an autosomal recessive disease, characterized by cone–rod retinal dystrophy, cardiomyopathy and… (More)
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