Found: 21
Select item for more details and to access through your institution.
DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number.
- Published in:
- NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00368-7
- By:
- Publication type:
- Article
DNA methylation profiles in individuals with rare, atypical 7q11.23 CNVs correlate with GTF2I and GTF2IRD1 copy number.
- Published in:
- NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00368-7
- By:
- Publication type:
- Article
Rare and low frequency genomic variants impacting neuronal functions modify the Dup7q11.23 phenotype.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Transcription Factor 2I Regulates Neuronal Development via TRPC3 in 7q11.23 Disorder Models.
- Published in:
- Molecular Neurobiology, 2019, v. 56, n. 5, p. 3313, doi. 10.1007/s12035-018-1290-7
- By:
- Publication type:
- Article
A Predictive Metabolic Signature for the Transition From Gestational Diabetes Mellitus to Type 2 Diabetes.
- Published in:
- 2016
- By:
- Publication type:
- journal article
7q11.23 Duplication Syndrome: Physical Characteristics and Natural History.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 2916, doi. 10.1002/ajmg.a.37340
- By:
- Publication type:
- Article
Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome.
- Published in:
- Molecular Brain, 2015, v. 8, p. 1, doi. 10.1186/s13041-015-0168-0
- By:
- Publication type:
- Article
Children with 7q11.23 duplication syndrome: Psychological characteristics.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 7, p. 1436, doi. 10.1002/ajmg.a.37071
- By:
- Publication type:
- Article
First Mouse Model for Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome.
- Published in:
- Journal of Bone & Mineral Research, 2014, v. 29, n. 6, p. 1412, doi. 10.1002/jbmr.2177
- By:
- Publication type:
- Article
Enu Mutagenesis Identifies a Novel Platelet Phenotype in a Loss-Of-Function Jak2 Allele.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0075472
- By:
- Publication type:
- Article
A novel Phex mutation in a new mouse model of hypophosphatemic rickets.
- Published in:
- Journal of Cellular Biochemistry, 2012, v. 113, n. 7, p. 2432, doi. 10.1002/jcb.24115
- By:
- Publication type:
- Article
Global Analysis of Gene Expression in the Developing Brain of Gtf2ird1 Knockout Mice.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023868
- By:
- Publication type:
- Article
The V-ATPase a3 subunit mutation R740S is dominant negative and results in osteopetrosis in mice.
- Published in:
- Journal of Bone & Mineral Research, 2011, v. 26, n. 7, p. 1484, doi. 10.1002/jbmr.355
- By:
- Publication type:
- Article
Frequency of the 7q11.23 inversion polymorphism in transmitting parents of children with Williams syndrome and in the general population does not differ between North America and Europe.
- Published in:
- Molecular Cytogenetics (17558166), 2011, v. 4, n. 1, p. 7, doi. 10.1186/1755-8166-4-7
- By:
- Publication type:
- Article
Caveat mTOR: aberrant signaling disrupts corticogenesis.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Genomic rearrangements in the spotlight.
- Published in:
- Nature Genetics, 2008, v. 40, n. 1, p. 6, doi. 10.1038/ng0108-6
- By:
- Publication type:
- Article
Transgenic mouse overexpressing syntaxin-1A as a diabetes model.
- Published in:
- 2005
- By:
- Publication type:
- journal article
Observation of a parental inversion variant in a rare Williams–Beuren syndrome family with two affected children.
- Published in:
- Human Genetics, 2005, v. 117, n. 4, p. 383, doi. 10.1007/s00439-005-1325-9
- By:
- Publication type:
- Article
The Centre for Modeling Human Disease Gene Trap resource.
- Published in:
- Nucleic Acids Research, 2004, v. 32, n. suppl 1, p. d557
- By:
- Publication type:
- Article
A 1.5 million?base pair inversion polymorphism in families with Williams-Beuren syndrome.
- Published in:
- Nature Genetics, 2001, v. 29, n. 3, p. 321, doi. 10.1038/ng753
- By:
- Publication type:
- Article
Nasal epithelial ion transport and genetic analysis of infertile men with congenital bilateral absence of the vas deferens.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 10, p. 1605
- By:
- Publication type:
- Article