Works matching DE "COFFIN-Lowry syndrome"
Results: 17
The Coffin-Lowry Syndrome-Associated Protein RSK2 Regulates Neurite Outgrowth through Phosphorylation of Phospholipase DI (PLD1) and Synthesis of Phosphatidic Acid.
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- Journal of Neuroscience, 2013, v. 33, n. 50, p. 19470, doi. 10.1523/JNEUROSCI.2283-13.2013
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- Article
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
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- Human Genetics, 2015, v. 134, n. 6, p. 553, doi. 10.1007/s00439-015-1535-8
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- Article
Rsk2, the Kinase Mutated in Coffin-Lowry Syndrome, Controls Cementum Formation.
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- 2016
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- journal article
An Xp22.12 microduplication including RPS6KA3 identified in a family with variably affected intellectual and behavioral disabilities.
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- Journal of Human Genetics, 2013, v. 58, n. 11, p. 755, doi. 10.1038/jhg.2013.88
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- Article
Drop episodes improved after tracheotomy: a case of Coffin-Lowry syndrome associated with obstructive sleep apnea syndrome.
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- European Review for Medical & Pharmacological Sciences, 2016, v. 20, n. 3, p. 498
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- Article
Coffin-Lowry Syndrome (CLS).
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- Dialog: Journal of the Texas Educational Diagnosticians Association, 2015, v. 44, n. 2, p. 21
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- Article
Coffin-Siris syndrome is a SWI/ SNF complex disorder.
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- Clinical Genetics, 2014, v. 85, n. 6, p. 548, doi. 10.1111/cge.12225
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- Article
RSK2 mutation co-segregates with X-linked intellectual disability and attenuated Coffin-Lowry phenotype in a three-generation family.
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- Clinical Genetics, 2014, v. 85, n. 1, p. 96, doi. 10.1111/cge.12122
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- Article
Síndrome de Coffin-Lowry.
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- 2014
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- Case Study
Rsk2 Knockout Affects Emotional Behavior in the IntelliCage.
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- Behavior Genetics, 2017, v. 47, n. 4, p. 434, doi. 10.1007/s10519-017-9853-3
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- Article
Chewing and swallowing training in Coffin–Lowry syndrome: A case report.
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- 2024
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- Case Study
A Highlighted Case for Emphasizing on Clinical Diagnosis for Rare Syndrome in Third World.
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- Iranian Journal of Child Neurology, 2017, v. 11, n. 4, p. 77
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- Article
Airway management of a patient with coffin-lowry syndrome: a case report.
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- BMC Anesthesiology, 2024, v. 24, n. 1, p. 1, doi. 10.1186/s12871-024-02667-7
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- Article
The natural history of spinal deformity in patients with Coffin-Lowry syndrome.
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- Journal of Children's Orthopaedics (British Editorial Society of Bone & Joint Surgery), 2018, v. 12, n. 1, p. 70, doi. 10.1302/1863-2548.12.170101
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- Article
Neonatal Hyperekplexia.
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- Journal of Neonatology, 2023, v. 37, n. 2, p. 165, doi. 10.1177/09732179231157201
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- Article
RSK2 Is a Modulator of Craniofacial Development.
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- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0084343
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- Article
Animal Models for Coffin-Lowry Syndrome: RSK2 and Nervous System Dysfunction.
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- Frontiers in Behavioral Neuroscience, 2018, p. 1, doi. 10.3389/fnbeh.2018.00106
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- Article