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ANKLE2‐related microcephaly: A variable microcephaly syndrome resembling Zika infection.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 8, p. 1276, doi. 10.1002/acn3.51629
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- Article
Newborn screening for neurodevelopmental diseases: Are we there yet?
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- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2022, v. 190, n. 2, p. 222, doi. 10.1002/ajmg.c.31988
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- Article
Autism-associated biomarkers: test–retest reliability and relationship to quantitative social trait variation in rhesus monkeys.
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- Molecular Autism, 2021, v. 12, n. 1, p. 1, doi. 10.1186/s13229-021-00442-w
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- Article
DRAXIN regulates interhemispheric fissure remodelling to influence the extent of corpus callosum formation.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.61618
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- Publication type:
- Article
DCC regulates astroglial development essential for telencephalic morphogenesis and corpus callosum formation.
- Published in:
- eLife, 2021, p. 1, doi. 10.7554/eLife.61769
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- Publication type:
- Article
Overcoming presynaptic effects of VAMP2 mutations with 4‐aminopyridine treatment.
- Published in:
- Human Mutation, 2020, v. 41, n. 11, p. 1999, doi. 10.1002/humu.24109
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- Publication type:
- Article
Sensorimotor Cortical Oscillations during Movement Preparation in 16p11.2 Deletion Carriers.
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- Journal of Neuroscience, 2019, v. 39, n. 37, p. 7321, doi. 10.1523/JNEUROSCI.3001-17.2019
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- Article
Deletion of Tmtc4 activates the unfolded protein response and causes postnatal hearing loss.
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- 2018
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- Publication type:
- journal article
Cerebrospinal fluid vasopressin and symptom severity in children with autism.
- Published in:
- 2018
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- Publication type:
- journal article
Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction.
- Published in:
- BMC Medical Genomics, 2018, v. 11, n. 1, p. N.PAG, doi. 10.1186/s12920-018-0362-x
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- Publication type:
- Article
Arginine vasopressin in cerebrospinal fluid is a marker of sociality in nonhuman primates.
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- Science Translational Medicine, 2018, v. 10, n. 439, p. 1, doi. 10.1126/scitranslmed.aam9100
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- Publication type:
- Article
16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 2943, doi. 10.1002/ajmg.a.37820
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- Article
Reply: ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
- Published in:
- 2016
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- Publication type:
- journal article
Early Predictors of Impaired Social Functioning in Male Rhesus Macaques (Macaca mulatta).
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0165401
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- Publication type:
- Article
Reciprocal white matter alterations due to 16p11.2 chromosomal deletions versus duplications.
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- Human Brain Mapping, 2016, v. 37, n. 8, p. 2833, doi. 10.1002/hbm.23211
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- Publication type:
- Article
Auditory Evoked M100 Response Latency is Delayed in Children with 16p11.2 Deletion but not 16p11.2 Duplication.
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- Cerebral Cortex, 2016, v. 26, n. 5, p. 1957, doi. 10.1093/cercor/bhv008
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- Publication type:
- Article
The Contribution of the Corpus Callosum to Language Lateralization.
- Published in:
- Journal of Neuroscience, 2016, v. 36, n. 16, p. 4522, doi. 10.1523/JNEUROSCI.3850-14.2016
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- Publication type:
- Article
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 6, p. 623, doi. 10.1002/acn3.198
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- Publication type:
- Article
White Matter Changes of Neurite Density and Fiber Orientation Dispersion during Human Brain Maturation.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0123656
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- Publication type:
- Article
Mapk/Erk activation in an animal model of social deficits shows a possible link to autism.
- Published in:
- Molecular Autism, 2014, v. 5, n. 1, p. 60, doi. 10.1186/2040-2392-5-57
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- Publication type:
- Article
Opposing Brain Differences in 16p11.2 Deletion and Duplication Carriers.
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- Journal of Neuroscience, 2014, v. 34, n. 34, p. 11199, doi. 10.1523/JNEUROSCI.1366-14.2014
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- Publication type:
- Article
De novo ANKRD11 and KDM1A gene mutations in a male with features of KBG syndrome and Kabuki syndrome.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1744, doi. 10.1002/ajmg.a.36450
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- Publication type:
- Article
Clinical, genetic and imaging findings identify new causes for corpus callosum development syndromes.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 6, p. 1579, doi. 10.1093/brain/awt358
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- Publication type:
- Article
Aberrant White Matter Microstructure in Children with 16p11.2 Deletions.
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- Journal of Neuroscience, 2014, v. 34, n. 18, p. 6214, doi. 10.1523/JNEUROSCI.4495-13.2014
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- Publication type:
- Article
Both Rare and <i>De Novo</i> Copy Number Variants Are Prevalent in Agenesis of the Corpus Callosum but Not in Cerebellar Hypoplasia or Polymicrogyria.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 10, p. 1, doi. 10.1371/journal.pgen.1003823
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- Publication type:
- Article
Neurodevelopmental disorders and genetic testing: Current approaches and future advances.
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- Annals of Neurology, 2013, v. 74, n. 2, p. 164, doi. 10.1002/ana.23950
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- Publication type:
- Article
Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1523, doi. 10.1002/ajmg.a.35969
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- Publication type:
- Article
Quantitative Trait Loci for Interhemispheric Commissure Development and Social Behaviors in the BTBR T<sup>+</sup><i>tf/J</i> Mouse Model of Autism.
- Published in:
- PLoS ONE, 2013, v. 8, n. 4, p. 1, doi. 10.1371/journal.pone.0061829
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- Publication type:
- Article
Children With Autism Show Reduced Somatosensory Response: An MEG Study.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2012, v. 5, n. 5, p. 340, doi. 10.1002/aur.1247
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- Publication type:
- Article
The Role of Corpus Callosum Development in Functional Connectivity and Cognitive Processing.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0039804
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- Publication type:
- Article
VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans.
- Published in:
- Human Mutation, 2012, v. 33, n. 2, p. 364, doi. 10.1002/humu.21658
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- Publication type:
- Article
Genetic and functional analyses identify DISC1 as a novel callosal agenesis candidate gene.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 8, p. 1865, doi. 10.1002/ajmg.a.34081
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- Publication type:
- Article
The importance of metabolic testing in the evaluation of intellectual disability.
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- Annals of Neurology, 2008, v. 64, n. 2, p. 113, doi. 10.1002/ana.21468
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- Publication type:
- Article
NFIA Haploinsufficiency Is Associated with a CNS Malformation Syndrome and Urinary Tract Defects.
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- PLoS Genetics, 2007, v. 3, n. 5, p. e80, doi. 10.1371/journal.pgen.0030080
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- Article
Agenesis of the corpus callosum: genetic, developmental and functional aspects of connectivity.
- Published in:
- Nature Reviews Neuroscience, 2007, v. 8, n. 4, p. 287, doi. 10.1038/nrn2107
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- Publication type:
- Article