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The ribose methylation enzyme FTSJ1 has a conserved role in neuron morphology and learning performance.
- Published in:
- Life Science Alliance, 2023, v. 6, n. 4, p. 1, doi. 10.26508/lsa.202201877
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- Publication type:
- Article
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes.
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- Human Genetics, 2008, v. 123, n. 5, p. 469, doi. 10.1007/s00439-008-0498-4
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- Publication type:
- Article
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.
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- Human Genetics, 2007, v. 121, n. 5, p. 539, doi. 10.1007/s00439-007-0343-1
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- Publication type:
- Article
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
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- Human Genetics, 2006, v. 118, n. 5, p. 578, doi. 10.1007/s00439-005-0072-2
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- Publication type:
- Article
Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.
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- Translational Psychiatry, 2018, v. 8, n. 1, p. 1, doi. 10.1038/s41398-018-0136-4
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- Publication type:
- Article
People with Cerebral Palsy and Their Family's Preferences about Genomics Research.
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- Public Health Genomics, 2022, v. 25, n. 1/2, p. 22, doi. 10.1159/000518942
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- Article
Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor.
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- PLoS ONE, 2018, v. 13, n. 11, p. 1, doi. 10.1371/journal.pone.0206914
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- Article
La FAM fatale: USP9X in development and disease.
- Published in:
- Cellular & Molecular Life Sciences, 2015, v. 72, n. 11, p. 2075, doi. 10.1007/s00018-015-1851-0
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- Article
Novel IL1RAPL1 mutations associated with intellectual disability impair synaptogenesis.
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- Human Molecular Genetics, 2015, v. 24, n. 4, p. 1106, doi. 10.1093/hmg/ddu523
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- Publication type:
- Article
Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation.
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- Human Molecular Genetics, 2014, v. 23, n. 4, p. 1084, doi. 10.1093/hmg/ddt503
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- Article
The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth.
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- Human Molecular Genetics, 2013, v. 22, n. 23, p. 4673, doi. 10.1093/hmg/ddt315
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- Publication type:
- Article
Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability.
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- Human Molecular Genetics, 2013, v. 22, n. 15, p. 2984, doi. 10.1093/hmg/ddt155
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- Publication type:
- Article
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
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- Human Molecular Genetics, 2013, v. 22, n. 9, p. 1816, doi. 10.1093/hmg/ddt035
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- Publication type:
- Article
ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression.
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- Human Molecular Genetics, 2012, v. 21, n. 7, p. 1639, doi. 10.1093/hmg/ddr601
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- Publication type:
- Article
Functional characterization of the AFF (AF4/FMR2) family of RNA-binding proteins: insights into the molecular pathology of FRAXE intellectual disability.
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- Human Molecular Genetics, 2011, v. 20, n. 10, p. 1873, doi. 10.1093/hmg/ddr069
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- Publication type:
- Article
Lessons learnt from large-scale exon re-sequencing of the X chromosome.
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- Human Molecular Genetics, 2009, v. 18, n. R1, p. R60, doi. 10.1093/hmg/ddp071
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- Publication type:
- Article
Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 3, p. 265
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- Publication type:
- Article
Nance–Horan syndrome protein, NHS, associates with epithelial cell junctions.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 12, p. 1972, doi. 10.1093/hmg/ddl120
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- Publication type:
- Article
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00870-6
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- Publication type:
- Article
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00870-6
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- Publication type:
- Article
Rare copy number variation in cerebral palsy.
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- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 40, doi. 10.1038/ejhg.2013.93
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- Publication type:
- Article
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.
- Published in:
- Annals of Neurology, 2014, v. 75, n. 5, p. 782, doi. 10.1002/ana.24126
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- Publication type:
- Article
Protocadherin 19 Clustering Epilepsy and Neurosteroids: Opportunities for Intervention.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 18, p. 9769, doi. 10.3390/ijms22189769
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- Publication type:
- Article
Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE).
- Published in:
- Molecular Neurobiology, 2021, v. 58, n. 5, p. 2005, doi. 10.1007/s12035-020-02242-4
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- Publication type:
- Article
A genomic cause of cerebral palsy should not change the clinical classification.
- Published in:
- 2018
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- Publication type:
- Letter to the Editor
Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1311, doi. 10.1038/ejhg.2012.61
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- Publication type:
- Article
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
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- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 1010, doi. 10.1038/ejhg.2012.114
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- Publication type:
- Article
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 806, doi. 10.1038/ejhg.2012.9
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- Publication type:
- Article
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
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- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 717, doi. 10.1038/ejhg.2010.244
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- Publication type:
- Article
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
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- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 544, doi. 10.1038/ejhg.2009.220
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- Publication type:
- Article
Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
- Published in:
- 2010
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- Publication type:
- Correction notice
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 330, doi. 10.1038/ejhg.2009.175
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- Publication type:
- Article
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).
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- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 157, doi. 10.1038/ejhg.2009.139
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- Publication type:
- Article
MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression.
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- European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1029, doi. 10.1038/ejhg.2008.66
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- Article
XLMR genes: update 2007.
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- European Journal of Human Genetics, 2008, v. 16, n. 4, p. 422, doi. 10.1038/sj.ejhg.5201994
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- Publication type:
- Article
Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation.
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- European Journal of Human Genetics, 2007, v. 15, n. 3, p. 375, doi. 10.1038/sj.ejhg.5201758
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- Publication type:
- Article
The Börjeson–Forssman–Lehman syndrome (BFLS, MIM #301900).
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- European Journal of Human Genetics, 2006, v. 14, n. 12, p. 1233, doi. 10.1038/sj.ejhg.5201639
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- Publication type:
- Article
1024C>T (R342X) is a recurrent PHF6 mutation also found in the original Börjeson-Forssman-Lehmann syndrome family.
- Published in:
- 2004
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- Publication type:
- Letter
Spondyloepiphyseal dysplasia tarda (SEDL, MIM #313400).
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 9, p. 639, doi. 10.1038/sj.ejhg.5201025
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- Publication type:
- Article
A novel gene, FAM11A, associated with the FRAXF CpG island is transcriptionally silent in FRAXF full mutation.
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- European Journal of Human Genetics, 2002, v. 10, n. 11, p. 767, doi. 10.1038/sj.ejhg.5200881
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- Publication type:
- Article
Characterisation and expression of a large, 13.7 kb FMR2 isoform.
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- European Journal of Human Genetics, 1999, v. 7, n. 2, p. 157, doi. 10.1038/sj.ejhg.5200279
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- Publication type:
- Article
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
- Published in:
- Nature Genetics, 2014, v. 46, n. 10, p. 1063, doi. 10.1038/ng.3092
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- Publication type:
- Article
Glutamate receptors and learning and memory.
- Published in:
- Nature Genetics, 2010, v. 42, n. 11, p. 925, doi. 10.1038/ng1110-925
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- Publication type:
- Article
PHF6 mutations in T-cell acute lymphoblastic leukemia.
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- Nature Genetics, 2010, v. 42, n. 4, p. 338, doi. 10.1038/ng.542
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- Publication type:
- Article
Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 3, p. 1, doi. 10.1371/journal.pgen.1005022
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- Publication type:
- Article
FRA2A Is a CGG Repeat Expansion Associated with Silencing of <i>AFF3</i>.
- Published in:
- PLoS Genetics, 2014, v. 10, n. 4, p. 1, doi. 10.1371/journal.pgen.1004242
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- Publication type:
- Article
A UPF3-mediated regulatory switch that maintains RNA surveillance.
- Published in:
- Nature Structural & Molecular Biology, 2009, v. 16, n. 7, p. 747, doi. 10.1038/nsmb.1612
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- Publication type:
- Article
Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy.
- Published in:
- Translational Psychiatry, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41398-024-02783-5
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- Publication type:
- Article
X‐linked intellectual disability: Phenotypic expression in carrier females.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 3, p. 418, doi. 10.1111/cge.13667
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- Publication type:
- Article
Loss of <i>Usp9x</i> Disrupts Cortical Architecture, Hippocampal Development and TGFβ-Mediated Axonogenesis.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068287
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- Publication type:
- Article