Found: 67
Select item for more details and to access through your institution.
Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes.
- Published in:
- Genome Biology, 2011, v. 12, n. 9, p. 1, doi. 10.1186/gb-2011-12-9-r85
- By:
- Publication type:
- Article
Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations.
- Published in:
- Journal of Child Neurology, 2021, v. 36, n. 2, p. 152, doi. 10.1177/0883073820960314
- By:
- Publication type:
- Article
Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy.
- Published in:
- Journal of Child Neurology, 2019, v. 34, n. 8, p. 472, doi. 10.1177/0883073819840449
- By:
- Publication type:
- Article
Radiological differentiation of optic neuritis with myelin oligodendrocyte glycoprotein antibodies, aquaporin-4 antibodies, and multiple sclerosis.
- Published in:
- Multiple Sclerosis Journal, 2016, v. 22, n. 4, p. 470, doi. 10.1177/1352458515593406
- By:
- Publication type:
- Article
Mutations in SH3PXD2B cause Borrone dermato-cardio-skeletal syndrome.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 6, p. 741, doi. 10.1038/ejhg.2013.229
- By:
- Publication type:
- Article
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 494, doi. 10.1038/ejhg.2012.209
- By:
- Publication type:
- Article
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 4, p. 1264, doi. 10.1093/brain/awad379
- By:
- Publication type:
- Article
Droplet digital PCR as a first-tier molecular diagnostic tool for focal cortical dysplasia type II.
- Published in:
- Brain: A Journal of Neurology, 2022, v. 145, n. 12, p. e119, doi. 10.1093/brain/awac320
- By:
- Publication type:
- Article
Definitions and classification of malformations of cortical development: practical guidelines.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Identification of a novel RNF213 variant in a family with heterogeneous intracerebral vasculopathy.
- Published in:
- International Journal of Stroke, 2014, v. 9, n. 6, p. E26, doi. 10.1111/ijs.12306
- By:
- Publication type:
- Article
Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 3, p. 1344, doi. 10.3390/ijms23031344
- By:
- Publication type:
- Article
Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 2, p. 485, doi. 10.1002/acn3.51286
- By:
- Publication type:
- Article
Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1338, doi. 10.1002/acn3.50815
- By:
- Publication type:
- Article
Neuropathology of childhood-onset basal ganglia degeneration caused by mutation of VAC14.
- Published in:
- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 12, p. 859, doi. 10.1002/acn3.487
- By:
- Publication type:
- Article
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.
- Published in:
- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 5, p. 575, doi. 10.1002/acn3.191
- By:
- 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
- By:
- Publication type:
- Article
Aicardi Syndrome Is a Genetically Heterogeneous Disorder.
- Published in:
- Genes, 2023, v. 14, n. 8, p. 1565, doi. 10.3390/genes14081565
- By:
- Publication type:
- Article
Listen carefully: LIS1 and DCX MLPA in lissencephaly and subcortical band heterotopia.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 6, p. 701, doi. 10.1038/ejhg.2008.230
- By:
- Publication type:
- Article
Mutation analysis of the DCX gene and genotype/phenotype correlation in subcortical band heterotopia.
- Published in:
- European Journal of Human Genetics, 2001, v. 9, n. 1, p. 5, doi. 10.1038/sj.ejhg.5200548
- By:
- Publication type:
- Article
Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features.
- Published in:
- Nature Genetics, 2014, v. 46, n. 11, p. 1239, doi. 10.1038/ng.3103
- By:
- Publication type:
- Article
Parental health spillover effects of paediatric rare genetic conditions.
- Published in:
- Quality of Life Research, 2020, v. 29, n. 9, p. 2445, doi. 10.1007/s11136-020-02497-3
- By:
- Publication type:
- Article
Retrospective review of screening for Sturge‐Weber syndrome with brain magnetic resonance imaging and electroencephalography in infants with high‐risk port‐wine stains.
- Published in:
- 2018
- By:
- Publication type:
- Abstract
Screening for Sturge‐Weber syndrome: A state‐of‐the‐art review.
- Published in:
- Pediatric Dermatology, 2018, v. 35, n. 1, p. 30, doi. 10.1111/pde.13304
- By:
- Publication type:
- Article
Polymicrogyria: A common and heterogeneous malformation of cortical development.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2014, v. 166C, n. 2, p. 227, doi. 10.1002/ajmg.c.31399
- By:
- Publication type:
- Article
Inhibitory control in children with agenesis of the corpus callosum compared with typically developing children.
- Published in:
- Journal of the International Neuropsychological Society, 2024, v. 30, n. 1, p. 18, doi. 10.1017/S1355617723000218
- By:
- Publication type:
- Article
A Neuropsychological Profile for Agenesis of the Corpus Callosum? Cognitive, Academic, Executive, Social, and Behavioral Functioning in School-Age Children.
- Published in:
- Journal of the International Neuropsychological Society, 2018, v. 24, n. 5, p. 445, doi. 10.1017/S1355617717001357
- By:
- Publication type:
- Article
Revisiting brain rewiring and plasticity in children born without corpus callosum.
- Published in:
- Developmental Science, 2021, v. 24, n. 6, p. 1, doi. 10.1111/desc.13126
- By:
- Publication type:
- Article
MAGNETIC RESONANCE IMAGING FEATURES OF LISSENCEPHALY IN 2 LHASA APSOS.
- Published in:
- Veterinary Radiology & Ultrasound, 2002, v. 43, n. 4, p. 331, doi. 10.1111/j.1740-8261.2002.tb01013.x
- By:
- Publication type:
- Article
Structural Neuroplastic Responses Preserve Functional Connectivity and Neurobehavioural Outcomes in Children Born Without Corpus Callosum.
- Published in:
- Cerebral Cortex, 2021, v. 31, n. 2, p. 1227, doi. 10.1093/cercor/bhaa289
- By:
- Publication type:
- Article
A systematic review of brain MRI findings in monogenic disorders strongly associated with autism spectrum disorder.
- Published in:
- Journal of Child Psychology, 2021, v. 62, n. 11, p. 1339, doi. 10.1111/jcpp.13510
- By:
- Publication type:
- Article
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 43, doi. 10.1186/1750-1172-9-43
- By:
- Publication type:
- Article
Expanding the phenotypic spectrum of ARID1B-mediated disorders and identification of altered cell-cycle dynamics due to ARID1B haploinsufficiency.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Phenotypic variability of distal 22q11.2 copy number abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 7, p. 1623, doi. 10.1002/ajmg.a.34051
- By:
- Publication type:
- Article
Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene ( PAFAH1B1).
- Published in:
- Human Mutation, 2002, v. 19, n. 1, p. 4, doi. 10.1002/humu.10028
- By:
- Publication type:
- Article
Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 51, n. 1, p. 11, doi. 10.1002/jmd2.12081
- By:
- Publication type:
- Article
Guillain–Barré syndrome with optic neuritis.
- Published in:
- Journal of Paediatrics & Child Health, 2022, v. 58, n. 5, p. 887, doi. 10.1111/jpc.15656
- By:
- Publication type:
- Article
Cerebral palsy is not a diagnosis: A case report of a novel atlastin-1 mutation.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Balancing risks and benefits still the key to anti-epileptic prescribing for benign epilepsy with centro-temporal spikes.
- Published in:
- 2016
- By:
- Publication type:
- journal article
High resolution chromosomal microarray in undiagnosed neurological disorders.
- Published in:
- Journal of Paediatrics & Child Health, 2013, v. 49, n. 9, p. 716, doi. 10.1111/jpc.12256
- By:
- Publication type:
- Article
Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 11, p. 3378, doi. 10.1093/brain/awt249
- By:
- Publication type:
- Article
Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 5, p. 1415, doi. 10.1093/brain/awq078
- By:
- Publication type:
- Article
Periventricular nodular heterotopia with overlying polymicrogyria.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 12, p. 2811, doi. 10.1093/brain/awh658
- By:
- Publication type:
- Article
Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Speech and language in bilateral perisylvian polymicrogyria: a systematic review.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Evaluation of non-coding variation in GLUT1 deficiency.
- Published in:
- 2016
- By:
- Publication type:
- journal article
The histopathology of polymicrogyria: a series of 71 brain autopsy studies.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Predicting neurocognitive and behavioural outcome after early brain insult.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 4, p. 329, doi. 10.1111/dmcn.12387
- By:
- Publication type:
- Article
De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007281
- By:
- Publication type:
- Article
Differential regulation of two FLNA transcripts explains some of the phenotypic heterogeneity in the loss-of-function filaminopathies.
- Published in:
- Human Mutation, 2018, v. 39, n. 1, p. 103, doi. 10.1002/humu.23355
- By:
- Publication type:
- Article