Found: 99
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Mouse imprinting defect mutations that model Angelman syndrome.
- Published in:
- Genesis: The Journal of Genetics & Development, 2006, v. 44, n. 1, p. 12
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- Publication type:
- Article
Disruption of the genomic imprint in trans with homologous recombination at Snrpn in ES cells.
- Published in:
- Genesis: The Journal of Genetics & Development, 2003, v. 37, n. 4, p. 151, doi. 10.1002/gene.10237
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- Publication type:
- Article
Ube3a-ATS is an atypical RNA polymerase II transcript that represses the paternal expression of Ube3a.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 13, p. 3001, doi. 10.1093/hmg/dds130
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- Publication type:
- Article
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 22, p. 4360, doi. 10.1093/hmg/ddr363
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- Publication type:
- Article
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3.
- Published in:
- Human Molecular Genetics, 2011, v. 20, n. 15, p. 3093, doi. 10.1093/hmg/ddr212
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- Publication type:
- Article
The Angelman syndrome ubiquitin ligase localizes to the synapse and nucleus, and maternal deficiency results in abnormal dendritic spine morphology.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 1, p. 111
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- Publication type:
- Article
Prevalence of sexual dimorphism in mammalian phenotypic traits.
- Published in:
- Nature Communications, 2017, v. 8, n. 6, p. 15475, doi. 10.1038/ncomms15475
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- Publication type:
- Article
The Deep Genome Project.
- Published in:
- 2020
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- Publication type:
- Editorial
The MTHFR 677C→T polymorphism and behaviors in children with autism: exploratory genotype-phenotype correlations.
- Published in:
- Autism Research: Official Journal of the International Society for Autism Research, 2009, v. 2, n. 2, p. 98, doi. 10.1002/aur.70
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- Publication type:
- Article
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 79, doi. 10.1038/ejhg.2013.77
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- Publication type:
- Article
Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.
- Published in:
- BMC Genomics, 2008, v. 9, p. 1, doi. 10.1186/1471-2164-9-50
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- Publication type:
- Article
Functional polymorphisms in the human β4 subunit of nicotinic acetylcholine receptors.
- Published in:
- Neurogenetics, 2005, v. 6, n. 1, p. 37, doi. 10.1007/s10048-004-0199-7
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- Publication type:
- Article
Noninvasive single‐cell‐based prenatal genetic testing: A proof of concept clinical study.
- Published in:
- Prenatal Diagnosis, 2024, v. 44, n. 3, p. 304, doi. 10.1002/pd.6529
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- Publication type:
- Article
The effect of maternal body mass index and gestational age on circulating trophoblast yield in cell‐based noninvasive prenatal testing.
- Published in:
- Prenatal Diagnosis, 2020, v. 40, n. 11, p. 1383, doi. 10.1002/pd.5755
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- Publication type:
- Article
Obituary: Laird Jackson.
- Published in:
- 2020
- By:
- Publication type:
- editorial
Genome-wide copy number analysis on DNA from fetal cells isolated from the blood of pregnant women.
- Published in:
- 2016
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- Publication type:
- journal article
Detection of ≥1 Mb microdeletions and microduplications in a single cell using custom oligonucleotide arrays.
- Published in:
- Prenatal Diagnosis, 2012, v. 32, n. 1, p. 10, doi. 10.1002/pd.2855
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- Publication type:
- Article
Angelman syndrome: Drugs to awaken a paternal gene.
- Published in:
- Nature, 2012, v. 481, n. 7380, p. 150, doi. 10.1038/nature10784
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- Publication type:
- Article
Which way for genetic-test regulation? Leave test interpretation to specialists.
- Published in:
- 2010
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- Publication type:
- Opinion
Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study.
- Published in:
- Global Pediatric Health, 2019, v. 6, p. 1, doi. 10.1177/2333794X19830696
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- Publication type:
- Article
Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study.
- Published in:
- Global Pediatric Health, 2019, v. 6, p. N.PAG, doi. 10.1177/2333794X19830696
- By:
- Publication type:
- Article
Identification of chromatin remodeling genes Arid4a and Arid4b as leukemia suppressor genes.
- Published in:
- 2008
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- Publication type:
- journal article
Identification of Chromatin Remodeling Genes Arid4a and Arid4b as Leukemia Suppressor Genes.
- Published in:
- JNCI: Journal of the National Cancer Institute, 2008, v. 100, n. 17, p. 1247
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- Publication type:
- Article
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities.
- Published in:
- European Journal of Human Genetics, 2013, v. 21, n. 2, p. 173, doi. 10.1038/ejhg.2012.155
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- Publication type:
- Article
Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 283, doi. 10.1038/ejhg.2011.187
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- Publication type:
- Article
Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations.
- Published in:
- European Journal of Human Genetics, 2007, v. 15, n. 9, p. 943, doi. 10.1038/sj.ejhg.5201859
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- Publication type:
- Article
Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred.
- Published in:
- Annals of Neurology, 1988, v. 23, n. 6, p. 580, doi. 10.1002/ana.410230609
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- Publication type:
- Article
Atypical presentation and neuropathological studies in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
- Published in:
- Annals of Neurology, 1986, v. 20, n. 3, p. 367, doi. 10.1002/ana.410200318
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- Publication type:
- Article
Reaching a CNV milestone.
- Published in:
- Nature Genetics, 2014, v. 46, n. 10, p. 1046, doi. 10.1038/ng.3106
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- Publication type:
- Article
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.
- Published in:
- Nature Genetics, 2013, v. 45, n. 11, p. 1405, doi. 10.1038/ng.2776
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- Publication type:
- Article
A small recurrent deletion within 15q13.3 is associated with a range of neurodevelopmental phenotypes.
- Published in:
- Nature Genetics, 2009, v. 41, n. 12, p. 1269, doi. 10.1038/ng.481
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- Publication type:
- Article
Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.
- Published in:
- Nature Genetics, 2008, v. 40, n. 6, p. 719, doi. 10.1038/ng.158
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- Publication type:
- Article
Complex imprinting.
- Published in:
- Nature Genetics, 2004, v. 36, n. 8, p. 793, doi. 10.1038/ng0804-793
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- Publication type:
- Article
Mice Homozygous for the L250T Mutation in the alpha7 Nicotinic Acetylcholine Receptor Show Increased Neuronal Apoptosis and Die Within 1 Day of Birth.
- Published in:
- Journal of Neurochemistry, 2000, v. 74, n. 5, p. 2154, doi. 10.1046/j.1471-4159.2000.0742154.x
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- Publication type:
- Article
Truncation of <i>Ube3a-ATS</i> Unsilences Paternal <i>Ube3a</i> and Ameliorates Behavioral Defects in the Angelman Syndrome Mouse Model.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 12, p. 1, doi. 10.1371/journal.pgen.1004039
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- Publication type:
- Article
Fusion of Large-Scale Genomic Knowledge and Frequency Data Computationally Prioritizes Variants in Epilepsy.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 9, p. 1, doi. 10.1371/journal.pgen.1003797
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- Publication type:
- Article
Efficient, Long-term Hepatic Gene Transfer Using Clinically Relevant HDAd Doses by Balloon Occlusion Catheter Delivery in Nonhuman Primates.
- Published in:
- Molecular Therapy, 2009, v. 17, n. 2, p. 327, doi. 10.1038/mt.2008.257
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- Publication type:
- Article
Pseudo-hydrodynamic Delivery of Helper-dependent Adenoviral Vectors into Non-human Primates for Liver-directed Gene Therapy.
- Published in:
- Molecular Therapy, 2007, v. 15, n. 4, p. 732, doi. 10.1038/sj.mt.6300102
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- Publication type:
- Article
Increased Hepatic Transduction with Reduced Systemic Dissemination and Proinflammatory Cytokines Following Hydrodynamic Injection of Helper-Dependent Adenoviral Vectors
- Published in:
- Molecular Therapy, 2005, v. 12, n. 1, p. 99, doi. 10.1016/j.ymthe.2005.03.001
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- Publication type:
- Article
535. Long-Term Correction of Hyperbilirubinemia in a Rat Model of Crigler-Najjar Syndrome Type 1
- Published in:
- 2005
- By:
- Publication type:
- Abstract
Long-Term Correction of Ornithine Transcarbamylase Deficiency by WPRE-Mediated Overexpression Using a Helper-Dependent Adenovirus
- Published in:
- Molecular Therapy, 2004, v. 10, n. 3, p. 492, doi. 10.1016/j.ymthe.2004.05.036
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- Publication type:
- Article
Reduced inflammation and improved airway expression using Helper-Dependent adenoviral vectors with a k18 promoter
- Published in:
- Molecular Therapy, 2003, v. 7, n. 5, p. 649, doi. 10.1016/S1525-0016(03)00059-5
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- Publication type:
- Article
Generation of Helper-Dependent Adenoviral Vectors by Homologous Recombination
- Published in:
- Molecular Therapy, 2002, v. 5, n. 2, p. 204, doi. 10.1006/mthe.2002.0532
- By:
- Publication type:
- Article
Leukocyte Migration in Adipose Tissue of Mice Null for ICAM-1 and Mac-1 Adhesion Receptors<sup>**</sup>.
- Published in:
- Obesity (19307381), 2004, v. 12, n. 6, p. 936, doi. 10.1038/oby.2004.114
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- Publication type:
- Article
Using fetal cells for prenatal diagnosis: History and recent progress.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2016, v. 172C, n. 2, p. 123, doi. 10.1002/ajmg.c.31487
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- Publication type:
- Article
The NIH Roadmap Epigenomics Mapping Consortium.
- Published in:
- Nature Biotechnology, 2010, v. 28, n. 10, p. 1045, doi. 10.1038/nbt1010-1045
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- Publication type:
- Article
Current controversies in prenatal diagnosis 3: for prenatal diagnosis, should we offer less or more than metaphase karyotyping?
- Published in:
- 2009
- By:
- Publication type:
- Other
Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.
- Published in:
- Prenatal Diagnosis, 2009, v. 29, n. 1, p. 29, doi. 10.1002/pd.2127
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- Publication type:
- Article
Rapid prenatal diagnosis using uncultured amniocytes and oligonucleotide array CGH.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 10, p. 943, doi. 10.1002/pd.2087
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- Publication type:
- Article
Prenatal diagnosis of citrullinaemia: Review of a 10-year experience including recent use of DNA analysis.
- Published in:
- Prenatal Diagnosis, 1990, v. 10, n. 12, p. 771, doi. 10.1002/pd.1970101203
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- Publication type:
- Article