| Item Type | Name |
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Academic Article
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The mousetrap: what we can learn when the mouse model does not mimic the human disease.
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Academic Article
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Overexpression of a truncated human topoisomerase III partially corrects multiple aspects of the ataxia-telangiectasia phenotype.
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Academic Article
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Duplication of 17(p11.2p11.2) in a male child with autism and severe language delay.
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Academic Article
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Mutations in RAI1 associated with Smith-Magenis syndrome.
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Academic Article
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17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
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Academic Article
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Brachydactyly A1: new relatives for old families?
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Academic Article
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RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.
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Academic Article
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Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.
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Academic Article
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Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response.
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Academic Article
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Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR.
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Academic Article
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How much is too much? Phenotypic consequences of Rai1 overexpression in mice.
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Academic Article
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Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature.
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Academic Article
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Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
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Academic Article
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Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.
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Academic Article
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Distorted Mendelian transmission as a function of genetic background in Rai1-haploinsufficient mice.
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Academic Article
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Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.
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Academic Article
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Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity.
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Concept
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Phenotype
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Academic Article
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Dietary regimens modify early onset of obesity in mice haploinsufficient for Rai1.
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Academic Article
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MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.
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Academic Article
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Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience.
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Academic Article
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Clinical and Molecular Aspects of MBD5-Associated Neurodevelopmental Disorder (MAND).
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Academic Article
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Reprogramming metabolic pathways in vivo with CRISPR/Cas9 genome editing to treat hereditary tyrosinaemia.
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Academic Article
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Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.
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Academic Article
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Elucidation of the complex metabolic profile of cerebrospinal fluid using an untargeted biochemical profiling assay.
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Academic Article
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Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
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Academic Article
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Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.
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Academic Article
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LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.
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Academic Article
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Rapid Disruption of Genes Specifically in Livers of Mice Using Multiplex CRISPR/Cas9 Editing.
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Academic Article
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Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
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Grant
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Molecular Analysis of del(17)(p11.2)
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Grant
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Establishing zebrafish as a model for rai1 gene dosage
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Academic Article
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Genotype and phenotype correlation in 103 individuals with 2q37 deletion syndrome reveals incomplete penetrance and supports HDAC4 as the primary genetic contributor.
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Academic Article
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Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy.
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Academic Article
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Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizures.
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Academic Article
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Application of exome sequencing to diagnose a novel presentation of the Cornelia de Lange syndrome in an Afro-Caribbean family.
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Academic Article
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An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder.
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Academic Article
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Transcriptome analysis of MBD5-associated neurodevelopmental disorder (MAND) neural progenitor cells reveals dysregulation of autism-associated genes.
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Academic Article
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A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.
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Academic Article
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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia.
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Academic Article
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Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.
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Academic Article
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Novel phenotype of aortic root dilatation and late-onset metabolic decompensation in a patient with TMEM70 deficiency.
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Academic Article
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Metabolic individuality: Limitations, challenges, and potential for clinical utility.
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Academic Article
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Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.
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