Connection | Profiles RNS

Search Result Details

Back to Search Results

This page shows the details of why an item matched the keywords from your search.

Search Results

ELSEA, SARAH

One or more keywords matched the following items that are connected to ELSEA, SARAH

Item Type	Name
Academic Article	Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome.
Academic Article	Definition of the critical interval for Smith-Magenis syndrome.
Academic Article	Cytotoxicity of quinolones toward eukaryotic cells. Identification of topoisomerase II as the primary cellular target for the quinolone CP-115,953 in yeast.
Academic Article	Human 12(R)-lipoxygenase and the mouse ortholog. Molecular cloning, expression, and gene chromosomal assignment.
Academic Article	Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity.
Academic Article	Assignment of beta-centractin (CTRN2) to human chromosome 2 bands q11.1-->q11.2 with somatic cell hybrids and in situ hybridization.
Academic Article	Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome.
Academic Article	Cloning of a human "epidermal-type" 12-lipoxygenase-related gene and chromosomal localization to 17p13.
Academic Article	Aberrant hypermethylation of the major breakpoint cluster region in 17p11.2 in medulloblastomas but not supratentorial PNETs.
Academic Article	Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?
Academic Article	Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
Academic Article	New developments in Smith-Magenis syndrome (del 17p11.2).
Academic Article	Mutations in RAI1 associated with Smith-Magenis syndrome.
Academic Article	17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
Academic Article	RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
Academic Article	Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures.
Academic Article	Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.
Academic Article	RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.
Academic Article	Dose dependent expression of HDAC4 causes variable expressivity in a novel inherited case of brachydactyly mental retardation syndrome.
Academic Article	Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.
Academic Article	Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.
Academic Article	Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.
Academic Article	Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature.
Academic Article	Severe intellectual disability and autistic features associated with microduplication 2q23.1.
Academic Article	Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.
Academic Article	Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.
Academic Article	Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Academic Article	Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
Academic Article	Pharmacokinetic evaluation of two human epidermal growth factors (hEGF51 and hEGF53) in rats.
Academic Article	Assignment of developmentally regulated GTP-binding protein (DRG2) to human chromosome band 17p11.2 with somatic cell hybrids and localization to the Smith-Magenis syndrome critical interval.
Academic Article	Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene.
Academic Article	Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1).
Academic Article	Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.
Academic Article	Smith-Magenis syndrome.
Academic Article	A functional network module for Smith-Magenis syndrome.
Concept	Fragile X Mental Retardation Protein
Concept	Humans
Concept	Chromosomes, Human, Pair 18
Concept	Xenopus laevis
Concept	Cattle
Concept	Hand Deformities, Congenital
Concept	Mothers
Concept	CpG Islands
Concept	DNA, Superhelical
Concept	Escherichia coli
Concept	Plasma
Concept	Rabbits
Concept	Moyamoya Disease
Concept	Adaptor Proteins, Signal Transducing
Concept	Electrophoresis, Agar Gel
Concept	Tyrosinemias
Concept	CLOCK Proteins
Concept	Monosaccharide Transport Proteins
Concept	Pyruvate Dehydrogenase Complex Deficiency Disease
Concept	Parents
Concept	NADP
Concept	Glutamine
Concept	Diagnosis, Computer-Assisted
Concept	Spastic Paraplegia, Hereditary
Concept	Brain Diseases, Metabolic, Inborn
Concept	Methionine
Concept	Nucleocytoplasmic Transport Proteins
Concept	RNA, Small Interfering
Concept	Riboflavin Deficiency
Concept	Zellweger Syndrome
Concept	Chromosomes, Human, Pair 17
Concept	Introns
Concept	Isoflavones
Concept	Macaca fascicularis
Concept	Rats, Inbred Strains
Concept	Cross-Over Studies
Concept	Prader-Willi Syndrome
Concept	Trisomy
Concept	Drosophila melanogaster
Concept	Glucosephosphate Dehydrogenase Deficiency
Concept	Chromosome Banding
Concept	Open Reading Frames
Concept	Mice, Knockout
Concept	Pentose Phosphate Pathway
Concept	Family
Concept	Mammals
Concept	Fragile X Syndrome
Concept	Tretinoin
Concept	GTP-Binding Proteins
Concept	Cricetinae
Concept	Chromosomes, Human, Pair 11
Concept	Expressed Sequence Tags
Concept	Down Syndrome
Concept	Period Circadian Proteins
Concept	Sheep
Concept	Ellipticines
Concept	Metabolomics
Concept	Genetic Counseling
Concept	Language Development Disorders
Concept	Levodopa
Concept	Acyl-CoA Dehydrogenase, Long-Chain
Concept	Microcephaly
Concept	Hereditary Central Nervous System Demyelinating Diseases
Concept	Sodium-Calcium Exchanger
Concept	Health Knowledge, Attitudes, Practice
Concept	DNA Topoisomerases, Type I
Concept	Speech Disorders
Concept	Epithelial Sodium Channels
Concept	Anti-Anxiety Agents
Concept	De Lange Syndrome
Concept	Precipitin Tests
Concept	Dysarthria
Concept	Foot Deformities, Congenital
Concept	Chromosomes, Human, Pair 5
Concept	Mice, Congenic
Concept	Mice, Inbred Strains
Concept	NAD
Concept	Guinea Pigs
Concept	Rats
Concept	Argininosuccinic Aciduria
Concept	Genistein
Concept	Hyperargininemia
Concept	Carcinoma, Pancreatic Ductal
Concept	Mitochondrial Encephalomyopathies
Concept	Citrullinemia
Concept	Symporters
Concept	Farber Lipogranulomatosis
Concept	Chromosome Deletion
Concept	Leigh Disease
Concept	Electron Transport Complex IV
Concept	Ornithine Carbamoyltransferase Deficiency Disease
Concept	Musculoskeletal Abnormalities
Concept	Xenopus
Concept	Pierre Robin Syndrome
Concept	Cryptochromes
Concept	Mice
Concept	Cell Differentiation
Concept	Phosphoglycerate Dehydrogenase
Concept	Cysteine
Concept	Serine
Concept	Anemia, Sickle Cell
Concept	Patient Satisfaction
Concept	Promoter Regions, Genetic
Concept	Craniofacial Abnormalities
Concept	Abnormalities, Multiple
Concept	Zebrafish
Concept	Siblings
Concept	Chromosomes, Human, Pair 2
Concept	Sodium Channels
Concept	Exons
Concept	Codon
Concept	Mice, Inbred C57BL
Concept	Computational Biology
Concept	Urea Cycle Disorders, Inborn
Concept	Body Fat Distribution
Concept	MELAS Syndrome
Concept	Mice, Transgenic
Concept	Chromosome Disorders
Concept	Dopamine Agonists
Concept	Myoclonic Epilepsies, Progressive
Concept	Dihydroxyphenylalanine
Academic Article	Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
Academic Article	Retinoic acid induced-1 (Rai1) regulates craniofacial and brain development in Xenopus.
Academic Article	Phenotypic and molecular convergence of 2q23.1 deletion syndrome with other neurodevelopmental syndromes associated with autism spectrum disorder.
Academic Article	Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.
Academic Article	Human recombinant arginase enzyme reduces plasma arginine in mouse models of arginase deficiency.
Academic Article	Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Academic Article	Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).
Academic Article	Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).
Academic Article	Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.
Academic Article	Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies.
Academic Article	RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome.
Academic Article	Rapid Disruption of Genes Specifically in Livers of Mice Using Multiplex CRISPR/Cas9 Editing.
Academic Article	Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.
Concept	Smith-Magenis Syndrome
Concept	Brachydactyly
Concept	NAV1.3 Voltage-Gated Sodium Channel
Concept	Acid Sensing Ion Channels
Concept	Degenerin Sodium Channels
Academic Article	2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.
Academic Article	Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.
Academic Article	Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis.
Academic Article	Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Academic Article	Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.
Academic Article	Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Academic Article	Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes.
Academic Article	Effective Aspirin Treatment of Women at Risk for Preeclampsia Delays the Metabolic Clock of Gestation.
Academic Article	Assessing Prevalence and Carrier Frequency of Succinic Semialdehyde Dehydrogenase Deficiency.
Academic Article	A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delay.
Academic Article	Clinical metabolomics for inborn errors of metabolism.
Academic Article	NAXE deficiency: A neurometabolic disorder of NAD(P)HX repair amenable for metabolic correction.
Academic Article	Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations.
Academic Article	Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.
Academic Article	Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.
Academic Article	Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Academic Article	Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Search Criteria

Chromosomes Human
13
15