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Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome

Neuroscience, 2010-10, Vol.170 (3), p.858-864

2010

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Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets

Clinical genetics, 2015-06, Vol.87 (6), p.570-575

2015

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Cerebrospinal Fluid Calbindin D Concentration as a Biomarker of Cerebellar Disease Progression in Niemann-Pick Type C1 Disease

The Journal of pharmacology and experimental therapeutics, 2016-08, Vol.358 (2), p.254-261

2016

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Necroptosis in Niemann–Pick disease, type C1: a potential therapeutic target

Cell death & disease, 2016-03, Vol.7 (3), p.e2147-e2147

2016

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Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome

Journal of inherited metabolic disease, 2014-05, Vol.37 (3), p.415-420

2014

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Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome

Clinical genetics, 2014-05, Vol.85 (5), p.495-497

2014

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Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome

Human molecular genetics, 2001-03, Vol.10 (6), p.555-564

2001

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Lhx2, a LIM homeobox gene, is required for eye, forebrain, and definitive erythrocyte development

Development (Cambridge), 1997-08, Vol.124 (15), p.2935-2944

1997

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Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith–Lemli–Opitz syndrome

Human molecular genetics, 2008-12, Vol.17 (23), p.3806-3813

2008

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DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome

Journal of medical genetics, 2005-04, Vol.42 (4), p.350-357

2005

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The LIM homeobox gene Lhx9 is essential for mouse gonad formation

Nature (London), 2000-02, Vol.403 (6772), p.909-913

2000

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Molecular analysis of a metalloprotease from Proteus mirabilis

Journal of Bacteriology, 1995-10, Vol.177 (20), p.5790-5798

1995

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Genetic Disorders of Cholesterol Biosynthesis in Mice and Humans

Molecular Genetics and Metabolism, 2001-09, Vol.74 (1-2), p.105-119

2001

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DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients

American journal of medical genetics. Part A, 2005-07, Vol.136A (3), p.278-281

2005

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Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker

The Journal of clinical investigation, 2014-03, Vol.124 (3), p.1320-1328

2014

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A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

Nature genetics, 2003-04, Vol.33 (4), p.508-513

2003

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A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

Nature genetics, 2003-05, Vol.34 (1), p.113-113

2003

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Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency

Human molecular genetics, 2003-07, Vol.12 (13), p.1631-1641

2003

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Development and characterization of a hypomorphic Smith–Lemli–Opitz syndrome mouse model and efficacy of simvastatin therapy

Human molecular genetics, 2006-03, Vol.15 (6), p.839-851

2006

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Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health

Genetics in medicine, 2009-05, Vol.11 (5), p.359-364

2009

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Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith–Lemli–Opitz syndrome fibroblasts

Molecular genetics and metabolism, 2005-06, Vol.85 (2), p.96-107

2005

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27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith–Lemli–Opitz syndrome: a novel metabolic pathway

Steroids, 2003-08, Vol.68 (6), p.497-502

2003

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Recognition of Smith–Lemli–Opitz syndrome (RSH) in the fetus: Utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol

American journal of medical genetics. Part A, 2005-09, Vol.138A (1), p.56-60

2005

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Cholesterol storage defect in RSH/Smith–Lemli–Opitz syndrome fibroblasts

Molecular genetics and metabolism, 2002-04, Vol.75 (4), p.325-334

2002

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Erratum: A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

Nature genetics, 2003-05, Vol.34 (1), p.113-113

2003

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Nanostructure-initiator mass spectrometry (NIMS) imaging of brain cholesterol metabolites in Smith-Lemli-Opitz syndrome

Determination of the allelic frequency in Smith-Lemli-Opitz syndrome by analysis of massively parallel sequencing data sets

Cerebrospinal Fluid Calbindin D Concentration as a Biomarker of Cerebellar Disease Progression in Niemann-Pick Type C1 Disease

Necroptosis in Niemann–Pick disease, type C1: a potential therapeutic target

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome

Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome

Lhx2, a LIM homeobox gene, is required for eye, forebrain, and definitive erythrocyte development

Characterization of placental cholesterol transport: ABCA1 is a potential target for in utero therapy of Smith–Lemli–Opitz syndrome

DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome

The LIM homeobox gene Lhx9 is essential for mouse gonad formation

Molecular analysis of a metalloprotease from Proteus mirabilis

Genetic Disorders of Cholesterol Biosynthesis in Mice and Humans

DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients

Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency

Development and characterization of a hypomorphic Smith–Lemli–Opitz syndrome mouse model and efficacy of simvastatin therapy

Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health

Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith–Lemli–Opitz syndrome fibroblasts

27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith–Lemli–Opitz syndrome: a novel metabolic pathway

Recognition of Smith–Lemli–Opitz syndrome (RSH) in the fetus: Utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol

Cholesterol storage defect in RSH/Smith–Lemli–Opitz syndrome fibroblasts

Erratum: A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

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