Found: 41
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Mutations in Eml1 lead to ectopic progenitors and neuronal heterotopia in mouse and human.
- Published in:
- Nature Neuroscience, 2014, v. 17, n. 7, p. 923, doi. 10.1038/nn.3729
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- Publication type:
- Article
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30443-z
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- Publication type:
- Article
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 4, p. 381, doi. 10.1038/ejhg.2012.195
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- Publication type:
- Article
Mutations in exon 1 of MECP2B are not a common cause of X-linked mental retardation in males.
- Published in:
- 2005
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- Publication type:
- Letter
In vitro follicular growth affects oocyte imprinting establishment in mice.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 7, p. 493, doi. 10.1038/sj.ejhg.5200990
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- Publication type:
- Article
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype.
- Published in:
- 2010
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- Publication type:
- Report
Pénurie de soins ou pénurie d'infirmières ?
- Published in:
- Perspective Infirmière, 2016, v. 13, n. 3, p. 45
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- Publication type:
- Article
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 4, p. 1106, doi. 10.1093/hmg/ddu523
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- Publication type:
- Article
Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 6, p. 1516, doi. 10.1093/hmg/ddt538
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- Publication type:
- Article
Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 22, p. 4462, doi. 10.1093/hmg/ddq377
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- Publication type:
- Article
Mutations in the β-tubulin gene TUBB2B result in asymmetrical polymicrogyria.
- Published in:
- Nature Genetics, 2009, v. 41, n. 6, p. 746, doi. 10.1038/ng.380
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- Publication type:
- Article
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females.
- Published in:
- PLoS Genetics, 2009, v. 5, n. 2, p. 1, doi. 10.1371/journal.pgen.1000381
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- Publication type:
- Article
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 8, p. 981, doi. 10.1093/hmg/11.8.981
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- Publication type:
- Article
MECP2 is highly mutated in X-linked mental retardation.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 941, doi. 10.1093/hmg/10.9.941
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- Publication type:
- Article
MECP2 is highly mutated in X-linked mental retardation.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 9, p. 941, doi. 10.1093/hmg/10.9.941
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- Publication type:
- Article
The role of ARX in cortical development.
- Published in:
- European Journal of Neuroscience, 2006, v. 23, n. 4, p. 869, doi. 10.1111/j.1460-9568.2006.04629.x
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- Publication type:
- Article
Reply: De novo mutations in CLDN5: alternating hemiplegia of childhood or not?
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 8, p. e59, doi. 10.1093/brain/awad054
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- Publication type:
- Article
Recurrent de novo mutations in CLDN5 induce an anion-selective blood-brain barrier and alternating hemiplegia.
- Published in:
- 2022
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- Publication type:
- journal article
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
- Published in:
- 2019
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- Publication type:
- letter
WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells.
- Published in:
- 2017
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- Publication type:
- journal article
The wide spectrum of tubulinopathies: what are the key features for the diagnosis?
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- Brain: A Journal of Neurology, 2014, v. 137, n. 6, p. 1676, doi. 10.1093/brain/awu082
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- Publication type:
- Article
New insights into genotype–phenotype correlations for the doublecortin-related lissencephaly spectrum.
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- Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 223
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- Publication type:
- Article
GPR56-related bilateral frontoparietal polymicrogyria: further evidence for an overlap with the cobblestone complex.
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- Brain: A Journal of Neurology, 2010, v. 133, n. 11, p. 3194, doi. 10.1093/brain/awq259
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- Publication type:
- Article
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A.
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- Brain: A Journal of Neurology, 2008, v. 131, n. 9, p. 2304, doi. 10.1093/brain/awn155
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- Publication type:
- Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
- Published in:
- Nature Genetics, 2013, v. 45, n. 8, p. 962, doi. 10.1038/ng0813-962b
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- Publication type:
- Article
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
- Published in:
- Nature Genetics, 2013, v. 45, n. 6, p. 639, doi. 10.1038/ng.2613
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- Publication type:
- Article
CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy.
- Published in:
- Human Mutation, 2017, v. 38, n. 8, p. 932, doi. 10.1002/humu.23270
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- Publication type:
- Article
Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females.
- Published in:
- Human Mutation, 2011, v. 32, n. 1, p. E1959, doi. 10.1002/humu.21373
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- Publication type:
- Article
Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method.
- Published in:
- Human Mutation, 2008, v. 29, n. 9, p. 1083, doi. 10.1002/humu.20829
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- Publication type:
- Article
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A ( TUBA1A).
- Published in:
- Human Mutation, 2007, v. 28, n. 11, p. 1055, doi. 10.1002/humu.20572
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- Publication type:
- Article
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
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- Human Mutation, 2007, v. 28, n. 2, p. 207, doi. 10.1002/humu.9482
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- Publication type:
- Article
Five novel frameshift mutations in exon 3 and 4 of the MECP2 gene identified in Rett patients: Consequences for the molecular diagnosis strategy.
- Published in:
- Human Mutation, 2001, v. 18, n. 3, p. 251, doi. 10.1002/humu.1182
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- Publication type:
- Article
Loss of parental-specific methylation at the IGF2 locus in human hepatocellular carcinoma.
- Published in:
- Journal of Pathology, 2003, v. 201, n. 3, p. 473, doi. 10.1002/path.1477
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- Publication type:
- Article
Mutations in the novel gene <italic>FOPV</italic> are associated with familial autosomal dominant and non‐familial obliterative portal venopathy.
- Published in:
- Liver International, 2018, v. 38, n. 2, p. 358, doi. 10.1111/liv.13547
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- Publication type:
- Article
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 98, doi. 10.1002/ajmg.a.33785
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- Publication type:
- Article
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-25
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- Publication type:
- Article
The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.
- Published in:
- 2014
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- Publication type:
- journal article
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with Intellectual Disability.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 17, doi. 10.1186/1471-2350-12-17
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- Publication type:
- Article
Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria.
- Published in:
- Neurogenetics, 2013, v. 14, n. 3/4, p. 215, doi. 10.1007/s10048-013-0373-x
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- Publication type:
- Article
Mosaic DCX deletion causes subcortical band heterotopia in males.
- Published in:
- Neurogenetics, 2012, v. 13, n. 4, p. 367, doi. 10.1007/s10048-012-0339-4
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- Publication type:
- Article
A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation.
- Published in:
- Neurogenetics, 2010, v. 11, n. 2, p. 251, doi. 10.1007/s10048-009-0224-y
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- Publication type:
- Article