Found: 34
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Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome.
- Published in:
- EMBO Molecular Medicine, 2014, v. 6, n. 8, p. 1003, doi. 10.15252/emmm.201404044
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- Article
Copy number variation and susceptibility to complex traits.
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- EMBO Molecular Medicine, 2011, v. 3, n. 1, p. 1, doi. 10.1002/emmm.201000111
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- Article
SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 9, p. 3131, doi. 10.1093/brain/awae079
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- Article
Rai1 duplication causes physical and behavioral phenotypes in a mouse model of dup(17)(p11.2p11.2).
- Published in:
- 2006
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- Publication type:
- journal article
Arnold‐Chiari type 1 malformation in Potocki–Lupski syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1366, doi. 10.1002/ajmg.a.61187
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- Article
Definition of a critical genetic interval related to kidney abnormalities in the Potocki-Lupski syndrome.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 7, p. 1579, doi. 10.1002/ajmg.a.35399
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- Article
Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome.
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- BMC Molecular Biology, 2010, v. 11, p. 63, doi. 10.1186/1471-2199-11-63
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- Article
Gatad2b, associated with the neurodevelopmental syndrome GAND, plays a critical role in neurodevelopment and cortical patterning.
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- Translational Psychiatry, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41398-023-02678-x
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- Article
Tubular Overexpression of Gremlin Induces Renal Damage Susceptibility in Mice.
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- PLoS ONE, 2014, v. 9, n. 7, p. 1, doi. 10.1371/journal.pone.0101879
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- Article
RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome.
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- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045155
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- Article
Podocyte-Specific Overexpression of Wild Type or Mutant Trpc6 in Mice Is Sufficient to Cause Glomerular Disease.
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- PLoS ONE, 2010, v. 5, n. 9, p. 1, doi. 10.1371/journal.pone.0012859
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- Article
Unconventional Transcriptional Response to Environmental Enrichment in a Mouse Model of Rett Syndrome.
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- PLoS ONE, 2010, v. 5, n. 7, p. 1, doi. 10.1371/journal.pone.0011534
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- Article
cDNA cloning, biochemical and phylogenetic characterization of β- and β'-subunits of Candida albicans protein kinase CK2.
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- Yeast, 2003, v. 20, n. 6, p. 471, doi. 10.1002/yea.977
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- Article
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome.
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- Human Genetics, 2015, v. 134, n. 2, p. 181, doi. 10.1007/s00439-014-1509-2
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- Article
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.
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- Human Genetics, 2004, v. 115, n. 6, p. 515, doi. 10.1007/s00439-004-1187-6
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- Publication type:
- Article
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
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- European Journal of Human Genetics, 2012, v. 20, n. 2, p. 148, doi. 10.1038/ejhg.2011.167
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- Article
Transgenic complementation of MeCP2 deficiency: phenotypic rescue of Mecp2-null mice by isoform-specific transgenes.
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- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 69, doi. 10.1038/ejhg.2011.145
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- Article
Slow-twitch skeletal muscle defects accompany cardiac dysfunction in transgenic mice with a mutation in the myosin regulatory light chain.
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- FASEB Journal, 2019, v. 33, n. 3, p. 3152, doi. 10.1096/fj.201801402R
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- Article
Long-range cis-regulatory elements controlling GDF6 expression are essential for ear development.
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- 2020
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- Publication type:
- journal article
A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation.
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- Biology (2079-7737), 2018, v. 7, n. 2, p. 31, doi. 10.3390/biology7020031
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- Article
Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice.
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- Biology (2079-7737), 2017, v. 6, n. 2, p. 25, doi. 10.3390/biology6020025
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- Article
High frequency of kidney and urinary tract anomalies in asymptomatic first-degree relatives of patients with CAKUT.
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- Pediatric Nephrology, 2013, v. 28, n. 11, p. 2143, doi. 10.1007/s00467-013-2530-8
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- Article
Generation and characterization of a P2rx2 V60L mouse model for DFNA41.
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- Human Molecular Genetics, 2021, v. 30, n. 11, p. 985, doi. 10.1093/hmg/ddab077
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- Article
Correct developmental expression level of Rai1 in forebrain neurons is required for control of body weight, activity levels and learning and memory.
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- Human Molecular Genetics, 2014, v. 23, n. 7, p. 1771, doi. 10.1093/hmg/ddt568
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- Publication type:
- Article
Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models.
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- PLoS Biology, 2010, v. 8, n. 11, p. 1, doi. 10.1371/journal.pbio.1000543
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- Article
Epilepsy and Chromosomal Rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)].
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- Journal of Child Neurology, 2006, v. 21, n. 2, p. 93, doi. 10.1177/08830738060210021201
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- Article
A Duplication CNV That Conveys Traits Reciprocal to Metabolic Syndrome and Protects against Diet-Induced Obesity in Mice and Men.
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- PLoS Genetics, 2012, v. 8, n. 5, p. 1, doi. 10.1371/journal.pgen.1002713
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- Article
Ripor2 is involved in auditory hair cell stereociliary bundle structure and orientation.
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- Journal of Molecular Medicine, 2018, v. 96, n. 11, p. 1227, doi. 10.1007/s00109-018-1694-x
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- Article
Morphological and molecular analysis of centropagids from the high Andean plateau (Copepoda: Calanoidea).
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- Hydrobiologia, 2010, v. 637, n. 1, p. 45, doi. 10.1007/s10750-009-9983-6
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- Article
Elevated expression of MeCP2 in cardiac and skeletal tissues is detrimental for normal development.
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- Human Molecular Genetics, 2010, v. 19, n. 11, p. 2177, doi. 10.1093/hmg/ddq096
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- Article
Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.
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- Human Molecular Genetics, 2008, v. 17, n. 16, p. 2486, doi. 10.1093/hmg/ddn148
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- Article
Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith–Magenis syndrome.
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- Human Molecular Genetics, 2004, v. 13, n. 21, p. 2613, doi. 10.1093/hmg/ddh288
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- Article
Behavioral characterization of mouse models for Smith–Magenis syndrome and dup(17)(p11.2p11.2).
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- Human Molecular Genetics, 2004, v. 13, n. 4, p. 367
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- Article
Hearing Loss: Genetic Testing, Current Advances and the Situation in Latin America.
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- Genes, 2024, v. 15, n. 2, p. 178, doi. 10.3390/genes15020178
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- Article