Search Results - "Sundaram, Senthil K."
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CYP2D6 allele frequencies, copy number variants, and tandems in the population of Hong Kong
Published in Journal of clinical laboratory analysis (01-01-2019)“…Background CYP2D6 plays a crucial role in drug metabolism of several drugs. It is known to be highly polymorphic with enzymatic activity ranging from poor to…”
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2
Diffusion tensor analysis of temporal and extra-temporal lobe tracts in temporal lobe epilepsy
Published in Epilepsy research (01-07-2008)“…Summary Objective To determine whether the major temporal lobe white matter tracts in patients with temporal lobe epilepsy manifest abnormal water diffusion…”
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3
Relationship between aberrant brain connectivity and clinical features in Angelman Syndrome: A new method using tract based spatial statistics of DTI color-coded orientation maps
Published in NeuroImage (Orlando, Fla.) (02-01-2012)“…In order to relate brain structural abnormalities to clinical features of Angelman Syndrome (AS), we determined the locations of abnormal regional white matter…”
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4
SCN2A Mutation Is Associated With Infantile Spasms and Bitemporal Glucose Hypometabolism
Published in Pediatric neurology (01-07-2013)“…Abstract Background Genetic mutations play a crucial role in the etiology of cryptogenic infantile spasms, but the cause is still unknown in a significant…”
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5
Development and validation of next generation sequencing based 35-gene hereditary cancer panel
Published in Hereditary cancer in clinical practice (28-04-2020)“…Understanding the genetic basis of cancer risk is a major international endeavor. The emergence of next-generation sequencing (NGS) in late 2000's has further…”
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6
Abnormal Language Pathway in Children With Angelman Syndrome
Published in Pediatric neurology (01-05-2011)“…Angelman syndrome is a genetic disorder characterized by pervasive developmental disability with failure to develop speech. We examined the basis for severe…”
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7
Absence of Arcuate Fasciculus in Children with Global Developmental Delay of Unknown Etiology: A Diffusion Tensor Imaging Study
Published in The Journal of pediatrics (01-02-2008)“…Objective To investigate cortical association tracts using diffusion tensor imaging (DTI) in children with global developmental delay of unknown etiology…”
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Sensitive Diffusion Tensor Imaging Quantification Method to Identify Language Pathway Abnormalities in Children with Developmental Delay
Published in The Journal of pediatrics (01-01-2012)“…Objective To investigate whether abnormal regional white matter architecture in the perisylvian region could be used as an easy and sensitive quantitative…”
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9
Arcuate Fasciculus and Speech in Congenital Bilateral Perisylvian Syndrome
Published in Pediatric neurology (01-04-2011)“…Standard magnetic resonance imaging can diagnose congenital bilateral perisylvian polymicrogyria, but is limited in explaining the heterogeneous clinical…”
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10
Alterations in Frontal Lobe Tracts and Corpus Callosum in Young Children with Autism Spectrum Disorder
Published in Cerebral cortex (New York, N.Y. 1991) (01-09-2010)“…Major frontal lobe tracts and corpus callosum (CC) were investigated in 32 children with autism spectrum disorder (ASD, mean age: 5 years), 12 nonautistic…”
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Diffusion Tensor Imaging of Frontal Lobe in Autism Spectrum Disorder
Published in Cerebral cortex (New York, N.Y. 1991) (01-11-2008)“…To investigate frontal lobe white matter in children with autism spectrum disorder (ASD), we performed diffusion tensor imaging (DTI) in 50 ASD children (mean…”
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12
Tourette syndrome is associated with recurrent exonic copy number variants
Published in Neurology (18-05-2010)“…Multiple rare copy number variants (CNVs) including genomic deletions and duplications play a prominent role in neurodevelopmental disorders such as mental…”
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13
GNAQ Mutation in the Venous Vascular Malformation and Underlying Brain Tissue in Sturge-Weber Syndrome
Published in Neuropediatrics (01-10-2017)Get more information
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14
Mortality Prediction of COVID-19 Patients at Intensive Care Unit Admission
Published in Curēus (Palo Alto, CA) (18-11-2021)“…Background Coronavirus-2019 (COVID-19) patients admitted to the intensive care unit (ICU) have mortality rates between 30%-50%. Identifying patient factors…”
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15
Exome sequencing of a pedigree with tourette syndrome or chronic tic disorder
Published in Annals of neurology (01-05-2011)“…Ten members of a 3‐generation pedigree with 7 showing Tourette syndrome/chronic tic phenotype (TS‐CTD) were evaluated with whole exome sequencing. We…”
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Infantile Spasms Are Associated With Abnormal Copy Number Variations
Published in Journal of child neurology (01-10-2013)“…The authors tested the hypothesis that de novo copy number variations (CNVs) implicated in known genomic disorders (“pathogenic CNVs”) are significant…”
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17
Abnormal Brain Protein Synthesis in Language Areas of Children With Pervasive Developmental Disorder: A L-[1-11C]-Leucine PET Study
Published in Journal of Child Neurology (01-11-2011)“…This study was performed to evaluate the cerebral protein synthesis rate of language brain regions in children with developmental delay with and without…”
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Quantification of Protein Synthesis in the Human Brain Using L-[1-11C]-Leucine PET: Incorporation of Factors for Large Neutral Amino Acids in Plasma and for Amino Acids Recycled from Tissue
Published in The Journal of nuclear medicine (1978) (01-11-2006)“…The rate of incorporation of exogenous amino acids into brain proteins is indicative of the protein synthesis rate (PSR). The objective of this study was to…”
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Comparison of SUV and Patlak slope for monitoring of cancer therapy using serial PET scans
Published in European journal of nuclear medicine and molecular imaging (2003)“…The standardized uptake value (SUV) and the slope of the Patlak plot ( K) have both been proposed as indices to monitor the progress of disease during cancer…”
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Increased L-[1-11C] Leucine Uptake in the Leptomeningeal Angioma of Sturge-Weber Syndrome: A PET Study
Published in Journal of neuroimaging (01-04-2012)“…ABSTRACT BACKGROUND AND PURPOSE We used L‐[1–11C]leucine (LEU) positron emission tomography (PET) to measure amino acid uptake in children with Sturge‐Weber…”
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