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Derangements of Hippocampal Calcium/Calmodulin-Dependent Protein Kinase II in a Mouse Model for Angelman Mental Retardation Syndrome.
- Published in:
- Journal of Neuroscience, 2003, v. 23, n. 7, p. 2634, doi. 10.1523/JNEUROSCI.23-07-02634.2003
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- Publication type:
- Article
Comparative analysis of single-stranded DNA donors to generate conditional null mouse alleles.
- Published in:
- BMC Biology, 2018, v. 16, n. 1, p. 1, doi. 10.1186/s12915-018-0529-0
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- Publication type:
- Article
Aneuploidy as a mechanism for stress-induced liver adaptation.
- Published in:
- Journal of Clinical Investigation, 2012, v. 122, n. 9, p. 3307, doi. 10.1172/JCI64026
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- Publication type:
- Article
E-selectin ligand-1 regulates growth plate homeostasis in mice by inhibiting the intracellular processing and secretion of mature TGF-beta.
- Published in:
- 2010
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- Publication type:
- journal article
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. 4, p. 1633, doi. 10.1093/nar/gkw1237
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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
Corrigendum to 'Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation'.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 10, p. 2496, doi. 10.1002/ajmg.a.37192
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- Publication type:
- Article
Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 9, p. 2162, doi. 10.1002/ajmg.a.37144
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- Publication type:
- Article
Disease-specific databases: Why we need them and some recommendations from the Human Variome Project Meeting, May 28, 2011.
- Published in:
- 2012
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- Publication type:
- Other
Duplication of OCRL and adjacent genes associated with autism but not Lowe syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2602, doi. 10.1002/ajmg.a.35566
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- Publication type:
- Article
A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 2956, doi. 10.1002/ajmg.a.34297
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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
Autism: highly heritable but not inherited.
- Published in:
- Nature Medicine, 2007, v. 13, n. 5, p. 534, doi. 10.1038/nm0507-534
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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
The SNRPN promoter is not required for genomic imprinting of the Prader-Willi/Angelman domain in mice.
- Published in:
- Nature Genetics, 2001, v. 28, n. 3, p. 232, doi. 10.1038/90067
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- Publication type:
- Article
Necdin-deficient mice do not show lethality or the obesity and infertility of Prader-Willi syndrome.
- Published in:
- Nature Genetics, 1999, v. 22, n. 1, p. 15, doi. 10.1038/8722
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- Publication type:
- Article
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
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
Release Factor Translation of RNA Phage Terminator Codons.
- Published in:
- Nature, 1970, v. 227, n. 5253, p. 38, doi. 10.1038/227038a0
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- Publication type:
- Article
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
An Unexpected Function of the Prader-Willi Syndrome Imprinting Center in Maternal Imprinting in Mice.
- Published in:
- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0034348
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- Publication type:
- Article
Altered Ultrasonic Vocalization and Impaired Learning and Memory in Angelman Syndrome Mouse Model with a Large Maternal Deletion from Ube3a to Gabrb3.
- Published in:
- PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0012278
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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
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
Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.
- Published in:
- PLoS ONE, 2021, v. 16, n. 4, p. 1, doi. 10.1371/journal.pone.0249695
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- Publication type:
- Article
Requirement of Nicotinic Acetylcholine Receptor Subunit β2 in the Maintenance of Spiral Ganglion Neurons during Aging.
- Published in:
- Journal of Neuroscience, 2005, v. 25, n. 12, p. 3041, doi. 10.1523/JNEUROSCI.5277-04.2005
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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
Which way for genetic-test regulation? Leave test interpretation to specialists.
- Published in:
- 2010
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- Publication type:
- Opinion
Balloon Catheter Delivery of Helper-dependent Adenoviral Vector Results in Sustained, Therapeutic hFIX Expression in Rhesus Macaques.
- Published in:
- Molecular Therapy, 2012, v. 20, n. 10, p. 1863, doi. 10.1038/mt.2012.143
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- Publication type:
- Article
Progress toward Noninvasive Prenatal Diagnosis.
- Published in:
- Clinical Chemistry, 2011, v. 57, n. 6, p. 802, doi. 10.1373/clinchem.2011.165563
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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
Creatine metabolism in combined methylmalonic aciduria and homocystinuria.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 4, p. 557
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- Publication type:
- Article
Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.
- Published in:
- 2016
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- Publication type:
- Erratum
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1029, doi. 10.1007/s10545-015-9843-7
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- Publication type:
- Article
Antisense oligonucleotide therapy rescues disturbed brain rhythms and sleep in juvenile and adult mouse models of Angelman syndrome.
- Published in:
- eLife, 2023, p. 1, doi. 10.7554/eLife.81892
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- Publication type:
- Article
Gene-targeting pharmaceuticals for single-gene disorders.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. R1, p. R18, doi. 10.1093/hmg/ddv476
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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
- By:
- 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
Production of helper-dependent adenovirus vector relies on helper virus structure and complementing.
- Published in:
- Journal of Gene Medicine, 2002, v. 4, n. 5, p. 498, doi. 10.1002/jgm.301
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- Publication type:
- Article
Towards a therapy for Angelman syndrome by targeting a long non-coding RNA.
- Published in:
- Nature, 2015, v. 518, n. 7539, p. 409, doi. 10.1038/nature13975
- By:
- 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
- By:
- 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. 1, doi. 10.1177/2333794X19830696
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- Publication type:
- Article