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

[1]  E. Baker,et al.  Brain magnetic resonance imaging findings in smith–lemli–opitz syndrome , 2013, American Journal of Medical Genetics. Part A.

[2]  S. Mori,et al.  Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome. , 2013, Pediatric neurology.

[3]  Soo-Hong Han,et al.  Case of genochondromatosis type I in an 8‐year‐old boy , 2013, American journal of medical genetics. Part A.

[4]  Durba Sengupta,et al.  Molecular modeling of the human serotonin(1A) receptor: role of membrane cholesterol in ligand binding of the receptor. , 2011, Molecular bioSystems.

[5]  P. Rosa,et al.  Cholesterol and synaptic vesicle exocytosis , 2010, Communicative & integrative biology.

[6]  S. Shrivastava,et al.  Chronic cholesterol depletion using statin impairs the function and dynamics of human serotonin(1A) receptors. , 2010, Biochemistry.

[7]  E. Tierney,et al.  Analysis of short‐term behavioral effects of dietary cholesterol supplementation in Smith–Lemli–Opitz syndrome , 2010, American journal of medical genetics. Part A.

[8]  F. Barrantes,et al.  Sphingolipid/cholesterol regulation of neurotransmitter receptor conformation and function. , 2009, Biochimica et biophysica acta.

[9]  P. Svenningsson,et al.  Cholesterol reduction attenuates 5-HT1A receptor-mediated signaling in human primary neuronal cultures , 2008, Naunyn-Schmiedeberg's Archives of Pharmacology.

[10]  A. Chattopadhyay,et al.  Signaling by the human serotonin(1A) receptor is impaired in cellular model of Smith-Lemli-Opitz Syndrome. , 2008, Biochimica et biophysica acta.

[11]  F. Porter Smith–Lemli–Opitz syndrome: pathogenesis, diagnosis and management , 2008, European Journal of Human Genetics.

[12]  K. Hyland Clinical utility of monoamine neurotransmitter metabolite analysis in cerebrospinal fluid. , 2008, Clinical chemistry.

[13]  A. Chattopadhyay,et al.  Differential effects of cholesterol and 7-dehydrocholesterol on the ligand binding activity of the hippocampal serotonin(1A) receptor: implications in SLOS. , 2007, Biochemical and biophysical research communications.

[14]  Y. Loh,et al.  Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature , 2006, Journal of Cell Science.

[15]  E. Deneris,et al.  Making and breaking serotonin neurons and autism , 2005, International Journal of Developmental Neuroscience.

[16]  L. Astrakas,et al.  MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome , 2004, Neuroradiology.

[17]  K. Sulik,et al.  Abnormal serotonergic development in a mouse model for the Smith–Lemli–Opitz syndrome: implications for autism , 2003, International Journal of Developmental Neuroscience.

[18]  K. Antshel,et al.  Normal cognition and behavior in a Smith‐Lemli‐Opitz syndrome patient who presented with Hirschsprung disease , 2003, American journal of medical genetics. Part A.

[19]  E Courchesne,et al.  Relationship between head circumference and brain volume in healthy normal toddlers, children, and adults. , 2002, Neuropediatrics.

[20]  F. F. Weight,et al.  Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome. , 2001, Human molecular genetics.

[21]  L. Freund,et al.  Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome. , 2001, American journal of medical genetics.

[22]  H. Waterham,et al.  Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome. , 2000, Biochimica et biophysica acta.

[23]  C. Maslen,et al.  Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping. , 2000, American journal of medical genetics.

[24]  F. Porter RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis. , 2000, Molecular genetics and metabolism.

[25]  R. Hennekam,et al.  The Smith-Lemli-Opitz syndrome , 2000, Journal of Medical Genetics.

[26]  M. J. Richards,et al.  Marked alteration of sterol metabolism and composition without compromising retinal development or function. , 1999, Investigative ophthalmology & visual science.

[27]  G. Utermann,et al.  Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome. , 1998, Proceedings of the National Academy of Sciences of the United States of America.

[28]  D. S. Lin,et al.  Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome. , 1998, American journal of human genetics.

[29]  R M Winter,et al.  Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. , 1998, Journal of medical genetics.

[30]  R. Kelley Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultured skin fibroblasts. , 1995, Clinica chimica acta; international journal of clinical chemistry.

[31]  R. Surtees,et al.  Association of cerebrospinal fluid deficiency of 5-methyltetrahydrofolate, but not S-adenosylmethionine, with reduced concentrations of the acid metabolites of 5-hydroxytryptamine and dopamine. , 1994, Clinical science.

[32]  D. Howells,et al.  Cerebrospinal Fluid Concentrations of Pterins and Metabolites of Serotonin and Dopamine in a Pediatric Reference Population , 1993, Pediatric Research.

[33]  G. Tint,et al.  Defective cholesterol biosynthesis in Smith-Lemli-Opitz syndrome , 1993, The Lancet.

[34]  M. Narayan,et al.  Cerebrospinal fluid levels of homovanillic acid and 5-hydroxyindoleacetic acid in autism , 1993, Biological Psychiatry.

[35]  M. Aman,et al.  Psychometric characteristics of the aberrant behavior checklist. , 1985, American journal of mental deficiency.

[36]  J. Opitz,et al.  A newly recognized syndromeof multiple congenital anomalies , 1964 .

[37]  J. Opitz,et al.  A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES. , 1964, The Journal of pediatrics.