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Dissociation of hemoglobin accumulation and commitment during murine erythroleukemia cell differentiation by treatment with imidazole.
- Published in:
- Journal of Cellular Physiology, 1982, v. 113, n. 1, p. 179, doi. 10.1002/jcp.1041130127
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- Article
Self-injurious behaviours in people with and without intellectual delay: implications for the genetics of suicide.
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- International Journal of Neuropsychopharmacology, 2010, v. 13, n. 4, p. 527, doi. 10.1017/S1461145709990885
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- Publication type:
- Article
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30968-3
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- Article
HA novel approach to investigate tissue-specific trinucleotide repeat instability.
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- BMC Systems Biology, 2010, v. 4, p. 29, doi. 10.1186/1752-0509-4-29
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- Article
CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.
- Published in:
- 2016
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- Publication type:
- journal article
Hypomorphic mutation of the mouse Huntington's disease gene orthologue.
- Published in:
- PLoS Genetics, 2019, v. 15, n. 3, p. 1, doi. 10.1371/journal.pgen.1007765
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- Article
Molecular Genetics of Neurofibromatosis 2 and Related Tumors (Acoustic Neuroma and Meningioma)<sup>a</sup>.
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- Annals of the New York Academy of Sciences, 1991, v. 615, n. 1, p. 338, doi. 10.1111/j.1749-6632.1991.tb37776.x
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- Article
Molecular genetics: unmasking polyglutamine triggers in neurodegenerative disease.
- Published in:
- 2000
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- Publication type:
- journal article
Exon scanning for mutations of the nf2 gene in pediatric ependymomas, rhabdoid tumors and meningiomas.
- Published in:
- International Journal of Cancer, 1995, v. 64, n. 4, p. 243, doi. 10.1002/ijc.2910640406
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- Publication type:
- Article
16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-23113-z
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- Article
A rare exonic NRXN3 deletion segregating with neurodevelopmental and neuropsychiatric conditions in a three‐generation Chinese family.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2018, v. 177, n. 6, p. 589, doi. 10.1002/ajmg.b.32673
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- Article
Haplotype analysis of the 4p16.3 region in Portuguese families with Huntington's disease.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2015, v. 168B, n. 2, p. 135, doi. 10.1002/ajmg.b.32289
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- Publication type:
- Article
A novel microduplication of ARID1B: Clinical, genetic, and proteomic findings.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2478, doi. 10.1002/ajmg.a.38327
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- Publication type:
- Article
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
- Published in:
- 2015
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- Publication type:
- journal article
Expanding the phenotype and genotype of female GnRH deficiency.
- Published in:
- 2011
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- Publication type:
- journal article
Cloning, Characterization, and Genomic Structure of the Mouse Ikbkap Gene.
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- DNA & Cell Biology, 2001, v. 20, n. 9, p. 579, doi. 10.1089/104454901317094990
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- Article
Population-specific genetic modification of Huntington's disease in Venezuela.
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- PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007274
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- Article
Huntington disease: Estimation of heterozygote status using linked genetic markers.
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- Genetic Epidemiology, 1984, v. 1, n. 1, p. 81, doi. 10.1002/gepi.1370010110
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- Article
A complex intragenic rearrangement of ERCC8 in Chinese siblings with Cockayne syndrome.
- Published in:
- Scientific Reports, 2017, p. 44271, doi. 10.1038/srep44271
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- Article
Potential molecular consequences of transgene integration: The R6/2 mouse example.
- Published in:
- Scientific Reports, 2017, p. 41120, doi. 10.1038/srep41120
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- Article
Metabolic disruption identified in the Huntington's disease transgenic sheep model.
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- Scientific Reports, 2016, p. 20681, doi. 10.1038/srep20681
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- Article
Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat.
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- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-47485-0
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- Publication type:
- Article
RNA Sequence Analysis of Human Huntington Disease Brain Reveals an Extensive Increase in Inflammatory and Developmental Gene Expression.
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- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0143563
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- Publication type:
- Article
Mediator Subunit Med28 Is Essential for Mouse Peri-Implantation Development and Pluripotency.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0140192
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- Article
HD CAGnome: A Search Tool for Huntingtin CAG Repeat Length-Correlated Genes.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0095556
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- Article
Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects.
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- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0054492
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- Publication type:
- Article
dtorsin, the Drosophila Ortholog of the Early-Onset Dystonia TOR1A (DYT1), Plays a Novel Role in Dopamine Metabolism.
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- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0026183
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- Article
Copy Number Variation in Familial Parkinson Disease.
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- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0020988
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- Publication type:
- Article
No Association between α1-Antichymotrypsin and Familial Alzheimer's Diseasesa.
- Published in:
- Annals of the New York Academy of Sciences, 1996, v. 802, n. 1, p. 35, doi. 10.1111/j.1749-6632.1996.tb32596.x
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- Article
Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.
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- Journal of Molecular Medicine, 2007, v. 85, n. 2, p. 149, doi. 10.1007/s00109-006-0137-2
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- Publication type:
- Article
Protease inhibitor domain encoded by an amyloid protein precursor mRNA associated with Alzheimer's disease.
- Published in:
- Nature, 1988, v. 331, n. 6156, p. 528, doi. 10.1038/331528a0
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- Article
Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22.
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- Nature, 1987, v. 329, n. 6136, p. 246, doi. 10.1038/329246a0
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- Article
The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid β-protein gene.
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- Nature, 1987, v. 329, n. 6135, p. 156, doi. 10.1038/329156a0
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- Article
Homozygotes for Huntington's disease.
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- Nature, 1987, v. 326, n. 6109, p. 194, doi. 10.1038/326194a0
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- Article
Accuracy of testing for Huntington's disease.
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- Nature, 1986, v. 323, n. 6084, p. 118, doi. 10.1038/323118a0
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- Article
Loss of genes on chromosome 22 in tumorigenesis of human acoustic neuroma.
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- Nature, 1986, v. 322, n. 6080, p. 644, doi. 10.1038/322644a0
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- Article
Probes in Huntington's chorea (reply).
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- Nature, 1986, v. 320, n. 6057, p. 21, doi. 10.1038/320021b0
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- Article
Deletion of Huntington's disease-linked G8 (D4S10) locus in Wolf-Hirschhorn syndrome.
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- Nature, 1985, v. 318, n. 6041, p. 75, doi. 10.1038/318075a0
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- Publication type:
- Article
De novo variants in the Helicase-C domain of CHD8 are associated with severe phenotypes including autism, language disability and overgrowth.
- Published in:
- Human Genetics, 2020, v. 139, n. 4, p. 499, doi. 10.1007/s00439-020-02115-9
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- Article
Genomewide association study for susceptibility genes contributing to familial Parkinson disease.
- Published in:
- Human Genetics, 2009, v. 124, n. 6, p. 593, doi. 10.1007/s00439-008-0582-9
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- Publication type:
- Article
Huntington's disease age at motor onset is modified by the tandem hexamer repeat in TCERG1.
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- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00317-w
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- Article
Magicin, a novel cytoskeletal protein associates with the NF2 tumor suppressor merlin and Grb2.
- Published in:
- Oncogene, 2004, v. 23, n. 54, p. 8815, doi. 10.1038/sj.onc.1208110
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- Article
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
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- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 57, doi. 10.1038/ejhg.2013.67
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- Publication type:
- Article
Mosaic copy number variation in schizophrenia.
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- European Journal of Human Genetics, 2013, v. 21, n. 9, p. 1007, doi. 10.1038/ejhg.2012.287
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- Publication type:
- Article
Reversal of a full-length mutant huntingtin neuronal cell phenotype by chemical inhibitors of polyglutamine-mediated aggregation.
- Published in:
- BMC Neuroscience, 2005, v. 6, p. 1, doi. 10.1186/1471-2202-6-1
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- Publication type:
- Article
The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor.
- Published in:
- BMC Neuroscience, 2002, v. 3, p. 15, doi. 10.1186/1471-2202-3-15
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- Publication type:
- Article
Ring Chromosome 21: Characterization of DNA Sequences at Sites of Breakage and Reunion.
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- Annals of the New York Academy of Sciences, 1985, v. 450, n. 1, p. 33, doi. 10.1111/j.1749-6632.1985.tb21481.x
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- Publication type:
- Article
Linkage Map on Chromosome 21q and the Association of a DNA Haplotype with a Propensity to Nondisjunction and Trisomy 21.
- Published in:
- Annals of the New York Academy of Sciences, 1985, v. 450, n. 1, p. 95, doi. 10.1111/j.1749-6632.1985.tb21486.x
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- Article
Genetic Linkage Map for Chromosome 21.
- Published in:
- Annals of the New York Academy of Sciences, 1985, v. 450, n. 1, p. 25, doi. 10.1111/j.1749-6632.1985.tb21480.x
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- Publication type:
- Article
Frequent loss of chromosome 14 in atypical and malignant meningioma: identification of a putative `tumor progression' locus.
- Published in:
- Oncogene, 1997, v. 14, n. 5, p. 611, doi. 10.1038/sj.onc.1200853
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- Article