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GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.
- Published in:
- Human Genetics, 2019, v. 138, n. 10, p. 1183, doi. 10.1007/s00439-019-02057-x
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- Publication type:
- Article
Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies.
- Published in:
- Science Translational Medicine, 2021, v. 13, n. 580, p. 1, doi. 10.1126/scitranslmed.aaw0682
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- Publication type:
- Article
Observation-centered Approach to ASD Assessment in Tanzania.
- Published in:
- Intellectual & Developmental Disabilities, 2014, v. 52, n. 5, p. 330, doi. 10.1352/1934-9556-52.5.330
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- Publication type:
- Article
Genetics in Autism Diagnosis; Adding Molecular Subtypes to Neurobehavioral Diagnoses.
- Published in:
- 2011
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- Publication type:
- Case Study
Genetic testing makes important contributions to autism diagnosis.
- Published in:
- 2011
- By:
- Publication type:
- Opinion
Moderators of Age of Diagnosis in > 20,000 Females with Autism in Two Large US Studies.
- Published in:
- Journal of Autism & Developmental Disorders, 2023, v. 53, n. 2, p. 864, doi. 10.1007/s10803-021-05026-4
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- Publication type:
- Article
Predictors of Inpatient Psychiatric Hospitalization for Children and Adolescents with Autism Spectrum Disorder.
- Published in:
- Journal of Autism & Developmental Disorders, 2018, v. 48, n. 11, p. 3647, doi. 10.1007/s10803-017-3154-9
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- Publication type:
- Article
Characterization of Medication Use in a Multicenter Sample of Pediatric Inpatients with Autism Spectrum Disorder.
- Published in:
- Journal of Autism & Developmental Disorders, 2018, v. 48, n. 11, p. 3711, doi. 10.1007/s10803-017-3153-x
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- Publication type:
- Article
Strong correlation of downregulated genes related to synaptic transmission and mitochondria in post-mortem autism cerebral cortex.
- Published in:
- Journal of Neurodevelopmental Disorders, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s11689-018-9237-x
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- Publication type:
- Article
Inaugural Christianson Syndrome Association conference: families meeting for the first time.
- Published in:
- Journal of Neurodevelopmental Disorders, 2014, v. 6, n. 1, p. 1, doi. 10.1186/1866-1955-6-13
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- Publication type:
- Article
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
- Published in:
- 2014
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- Publication type:
- journal article
Genetic and phenotypic diversity of NHE 6 mutations in Christianson syndrome.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 4, p. 581, doi. 10.1002/ana.24225
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- Publication type:
- Article
Synaptogenesis and outer segment formation are perturbed in the neural retina of Crx mutant mice.
- Published in:
- BMC Neuroscience, 2005, v. 6, p. 5, doi. 10.1186/1471-2202-6-5
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- Publication type:
- Article
The association between epilepsy and autism symptoms and maladaptive behaviors in children with autism spectrum disorder.
- Published in:
- Autism: The International Journal of Research & Practice, 2014, v. 18, n. 8, p. 996, doi. 10.1177/1362361313508027
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- Publication type:
- Article
DELISHUS: an efficient and exact algorithm for genome-wide detection of deletion polymorphism in autism.
- Published in:
- Bioinformatics, 2012, v. 28, n. 12, p. i154, doi. 10.1093/bioinformatics/bts234
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- Publication type:
- Article
Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample.
- Published in:
- 2020
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- Publication type:
- journal article
Quantifying the effects of rare variants in pedigrees: how far does the apple fall from the tree?
- Published in:
- 2015
- By:
- Publication type:
- Journal Article
Quantifying the Effects of Rare Variants in Pedigrees.
- Published in:
- JAMA Psychiatry, 2015, v. 72, n. 2, p. 106, doi. 10.1001/jamapsychiatry.2014.2442
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- Publication type:
- Article
The autism inpatient collection: methods and preliminary sample description.
- Published in:
- Molecular Autism, 2015, v. 6, p. 1, doi. 10.1186/s13229-015-0054-8
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- Publication type:
- Article
SFARI Gene 2.0: a community-driven knowledgebase for the autism spectrum disorders (ASDs).
- Published in:
- Molecular Autism, 2013, v. 4, n. 1, p. 1, doi. 10.1186/2040-2392-4-36
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- Publication type:
- Article
Common genetic variants, acting additively, are a major source of risk for autism.
- Published in:
- Molecular Autism, 2012, v. 3, n. 1, p. 1, doi. 10.1186/2040-2392-3-9
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- Publication type:
- Article
Temporal order of bipolar cell genesis in the neural retina.
- Published in:
- Neural Development, 2008, v. 3, p. 1, doi. 10.1186/1749-8104-3-2
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- Publication type:
- Article
Parental age and autism severity in the Rhode Island Consortium for Autism Research and Treatment (RI‐CART) study.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2022, v. 15, n. 1, p. 86, doi. 10.1002/aur.2648
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- Publication type:
- Article
Autism severity aggregates with family psychiatric history in a community‐based autism sample.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2021, v. 14, n. 12, p. 2524, doi. 10.1002/aur.2625
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- Publication type:
- Article
Modest Impact on Risk for Autism Spectrum Disorder of Rare Copy Number Variants at 15 q11.2, Specifically Breakpoints 1 to 2.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2014, v. 7, n. 3, p. 355, doi. 10.1002/aur.1378
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- Publication type:
- Article
Clinical Characteristics of Children with Autism Spectrum Disorder and Co-Occurring Epilepsy.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0067797
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- Publication type:
- Article
Retinopathy and attenuated circadian entrainment in Crx-deficient mice.
- Published in:
- Nature Genetics, 1999, v. 23, n. 4, p. 466, doi. 10.1038/70591
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- Publication type:
- Article
Early lysosome defects precede neurodegeneration with amyloid-β and tau aggregation in NHE6-null rat brain.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Graph Metrics of Structural Brain Networks in Individuals with Schizophrenia and Healthy Controls: Group Differences, Relationships with Intelligence, and Genetics.
- Published in:
- Journal of the International Neuropsychological Society, 2016, v. 22, n. 2, p. 240, doi. 10.1017/S1355617715000867
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- Publication type:
- Article
Loss of Christianson Syndrome Na<sup>+</sup>/H<sup>+</sup> Exchanger 6 (NHE6) Causes Abnormal Endosome Maturation and Trafficking Underlying Lysosome Dysfunction in Neurons.
- Published in:
- Journal of Neuroscience, 2021, v. 41, n. 44, p. 9235, doi. 10.1523/JNEUROSCI.1244-20.2021
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- Publication type:
- Article
Postictal psychosis: presymptomatic risk factors and the need for further investigation of genetics and pharmacotherapy.
- Published in:
- Annals of General Psychiatry, 2006, v. 5, p. 9, doi. 10.1186/1744-859X-5-9
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- Publication type:
- Article
Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-70656-0
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- Publication type:
- Article
Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2284, doi. 10.1002/ajmg.a.61322
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- Publication type:
- Article
An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocytic astrocytoma.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 787, doi. 10.1002/ajmg.a.35841
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- Publication type:
- Article
A novel familial 11p15.4 microduplication associated with intellectual disability, dysmorphic features, and obesity with involvement of the ZNF214 gene.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 1, p. 50, doi. 10.1002/ajmg.a.34290
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- Publication type:
- Article
ISDN2014_0077: REMOVED: Novel endosomal mechanisms in human axonal growth mediated by Christianson syndrome protein NHE6.
- Published in:
- International Journal of Developmental Neuroscience, 2015, v. 47, p. 20, doi. 10.1016/j.ijdevneu.2015.04.063
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- Publication type:
- Article
Mitochondrial enzyme GPT2 regulates metabolic mechanisms required for neuron growth and motor function in vivo.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 4, p. 587, doi. 10.1093/hmg/ddab269
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- Publication type:
- Article