Found: 25
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VIP blockade leads to microcephaly in mice via disruption of Mcph1-Chk1 signaling.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Conditional Induction of Mathi Specifies Embryonic Stem Cells to Cerebellar Granule Neuron Lineage and Promotes Differentiation into Mature Granule Neurons.
- Published in:
- Stem Cells, 2013, v. 31, n. 4, p. 652, doi. 10.1002/stem.1295
- By:
- Publication type:
- Article
Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 3, p. 289, doi. 10.1038/sj.ejhg.5201558
- By:
- Publication type:
- Article
Exclusion of the dymeclin and PAPSS2 genes in a novel form of spondyloepimetaphyseal dysplasia and mental retardation.
- Published in:
- European Journal of Human Genetics, 2005, v. 13, n. 5, p. 541, doi. 10.1038/sj.ejhg.5201339
- By:
- Publication type:
- Article
Mutations within or upstream of the basic helix–loop–helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome.
- Published in:
- European Journal of Human Genetics, 1999, v. 7, n. 1, p. 27, doi. 10.1038/sj.ejhg.5200240
- By:
- Publication type:
- Article
Activated Somatostatin Type 2 Receptors Traffic In Vivo in Central Neurons from Dendrites to the Trans Golgi Before Recycling.
- Published in:
- Traffic, 2007, v. 8, n. 7, p. 820, doi. 10.1111/j.1600-0854.2007.00580.x
- By:
- Publication type:
- Article
Stem cell therapy for neonatal brain injury: Perspectives and Challenges.
- Published in:
- Annals of Neurology, 2011, v. 70, n. 5, p. 698, doi. 10.1002/ana.22518
- By:
- Publication type:
- Article
Neurological outcome in WDR62 primary microcephaly.
- Published in:
- Developmental Medicine & Child Neurology, 2022, v. 64, n. 4, p. 509, doi. 10.1111/dmcn.15060
- By:
- Publication type:
- Article
Correction to: ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly.
- Published in:
- 2018
- By:
- Publication type:
- Correction Notice
STIL balancing primary microcephaly and cancer.
- Published in:
- Cell Death & Disease, 2018, v. 9, n. 2, p. 1, doi. 10.1038/s41419-017-0101-9
- By:
- Publication type:
- Article
ZIKA virus elicits P53 activation and genotoxic stress in human neural progenitors similar to mutations involved in severe forms of genetic microcephaly and p53.
- Published in:
- Cell Death & Disease, 2017, v. 8, n. 1, p. e2567, doi. 10.1038/cddis.2016.446
- By:
- Publication type:
- Article
Golgipathies in Neurodevelopment: A New View of Old Defects.
- Published in:
- Developmental Neuroscience, 2018, v. 40, n. 5/6, p. 396, doi. 10.1159/000497035
- By:
- Publication type:
- Article
Golgi Dysfunctions in Ciliopathies.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 18, p. N.PAG, doi. 10.3390/cells11182773
- By:
- Publication type:
- Article
Cortical Organoids to Model Microcephaly.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 14, p. N.PAG, doi. 10.3390/cells11142135
- By:
- Publication type:
- Article
Human-Specific Genes, Cortical Progenitor Cells, and Microcephaly.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 5, p. 1209, doi. 10.3390/cells10051209
- By:
- Publication type:
- Article
A Novel RAB33B Mutation in Smith- Mc Cort Dysplasia.
- Published in:
- Human Mutation, 2013, v. 34, n. 2, p. 283, doi. 10.1002/humu.22235
- By:
- Publication type:
- Article
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 9, p. 1714, doi. 10.1093/hmg/ddp062
- By:
- Publication type:
- Article
The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 3, p. 440, doi. 10.1093/hmg/ddn371
- By:
- Publication type:
- Article
Mitochondrial succinate is instrumental for HIF1α nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 21, p. 3263, doi. 10.1093/hmg/ddi359
- By:
- Publication type:
- Article
Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve–Melchior–Clausen syndrome.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 3, p. 357, doi. 10.1093/hmg/ddg029
- By:
- Publication type:
- Article
Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location.
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 5, p. 813, doi. 10.1093/hmg/9.5.813
- By:
- Publication type:
- Article
Craniosynostosis and fetal exposure to sodium valproate.
- Published in:
- Journal of Neurosurgery, 2001, v. 95, n. 5, p. 778
- By:
- Publication type:
- Article
Endogenous cerebellar neurogenesis in adult mice with progressive ataxia.
- Published in:
- Annals of Clinical & Translational Neurology, 2014, v. 1, n. 12, p. 968, doi. 10.1002/acn3.137
- By:
- Publication type:
- Article
HIP/PAP prevents excitotoxic neuronal death and promotes plasticity.
- Published in:
- Annals of Clinical & Translational Neurology, 2014, v. 1, n. 10, p. 739, doi. 10.1002/acn3.127
- By:
- Publication type:
- Article
Trans-Modulation of the Somatostatin Type 2A Receptor Trafficking by Insulin-Regulated Aminopeptidase Decreases Limbic Seizures.
- Published in:
- Journal of Neuroscience, 2015, v. 35, n. 34, p. 11960, doi. 10.1523/JNEUROSCI.0476-15.2015
- By:
- Publication type:
- Article