Works matching DE "SMITH-Magenis syndrome"
Results: 75
Stroke after Cardiac Surgery in a Patient with Smith-Magenis Syndrome.
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- Texas Heart Institute Journal, 2007, v. 34, n. 2, p. 247
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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
A JOURNEY THROUGH COMPLEXITIES: MANAGING GENETIC SYNDROMES, CONGENITAL HEART DISEASE, SUPRARENAL INSUFFICIENCY AND LARYNGOMALACIA IN PEDIATRIC MEDICINE.
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- Acta Marisiensis. Seria Medica, 2024, v. 70, p. 313
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- Article
Rai1 frees mice from the repression of active wake behaviors by light.
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- eLife, 2017, p. 1, doi. 10.7554/eLife.23292
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- Article
RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.
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- Application of Clinical Genetics, 2017, v. 10, p. 85, doi. 10.2147/TACG.S128455
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- Article
Composite Sleep Problems Observed Across Smith–Magenis Syndrome, MBD5-Associated Neurodevelopmental Disorder, Pitt–Hopkins Syndrome, and ASD.
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- Journal of Autism & Developmental Disorders, 2021, v. 51, n. 6, p. 1852, doi. 10.1007/s10803-020-04666-2
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- Article
Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0330-x
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- Article
Behavioral disturbance and treatment strategies in Smith-Magenis syndrome.
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- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0330-x
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- Article
Analysis of the Sensory Profile in Children with Smith-Magenis Syndrome.
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- Physical & Occupational Therapy in Pediatrics, 2012, v. 32, n. 1, p. 48, doi. 10.3109/01942638.2011.572152
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- 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
Surgical treatment of scoliosis in Smith-Magenis syndrome: a case report.
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- 2010
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- Publication type:
- journal article
MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.
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- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 781, doi. 10.1038/ejhg.2014.200
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- 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
How much is too much? Phenotypic consequences of Rai1 overexpression in mice.
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- European Journal of Human Genetics, 2008, v. 16, n. 8, p. 941, doi. 10.1038/ejhg.2008.21
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- Article
Smith–Magenis syndrome.
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- European Journal of Human Genetics, 2008, v. 16, n. 4, p. 412, doi. 10.1038/sj.ejhg.5202009
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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
Moyamoya in a Patient with Smith-Magenis Syndrome.
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- 2017
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- Case Study
A Case of Smith-Magenis Syndrome with Multiple Organ Malformations.
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- Neonatal Medicine, 2017, v. 24, n. 1, p. 49, doi. 10.5385/nm.2017.24.1.49
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- Article
The behavioural phenotype of Smith–Magenis syndrome: evidence for a gene–environment interaction.
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- Journal of Intellectual Disability Research, 2008, v. 52, n. 10, p. 830, doi. 10.1111/j.1365-2788.2008.01066.x
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- Article
An individual with Gilles de la Tourette syndrome and Smith–Magenis microdeletion syndrome: is chromosome 17p11.2 a candidate region for Tourette syndrome putative susceptibility genes?
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- Journal of Intellectual Disability Research, 2007, v. 51, n. 8, p. 620, doi. 10.1111/j.1365-2788.2006.00943.x
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- Article
Molecular basis for phenotypic similarity of genetic disorders.
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- Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0641-y
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- Article
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome.
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- 2019
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- Correction Notice
Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics.
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- Genome Medicine, 2016, v. 8, p. 1, doi. 10.1186/s13073-016-0359-z
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- Article
A - Dysmorphology and Multiple Anomalies.
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- Clinical Genetics, 2010, v. 78, p. 17, doi. 10.1111/j.1399-0004.2010.01558.x
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- Article
17p11.2p12 triplication and del(17)q11.2q12 in a severely affected child with dup(17)p11.2p12 syndrome.
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- Clinical Genetics, 2007, v. 72, n. 1, p. 47, doi. 10.1111/j.1399-0004.2007.00831.x
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- Article
Foot Health and Mobility in People With Intellectual Disabilities.
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- Journal of Policy & Practice in Intellectual Disabilities, 2015, v. 12, n. 1, p. 42, doi. 10.1111/jppi.12105
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- Article
Behavior Phenotype: A Synthesis of Research to Understand Age-Related Change in Behavior in Several Syndromes.
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- Journal of Policy & Practice in Intellectual Disabilities, 2014, v. 11, n. 1, p. 43, doi. 10.1111/jppi.12066
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- Article
Multiple Impacted Urethral Metallic Needles and Screws (Foreign Bodies) Associated with Polyembolokoilamania.
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- Indian Journal of Surgery, 2015, v. 77, p. 106, doi. 10.1007/s12262-014-1181-8
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- Article
Syndromic and Monogenic Obesity: New Opportunities Due to Genetic-Based Pharmacological Treatment.
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- Children, 2024, v. 11, n. 2, p. 153, doi. 10.3390/children11020153
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- Article
Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review.
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- Children, 2023, v. 10, n. 9, p. 1451, doi. 10.3390/children10091451
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- Article
Copy number loss upstream of RAI1 uncovers gene expression regulatory region that may impact Potocki-Lupski syndrome diagnosis.
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- Molecular Cytogenetics (17558166), 2015, v. 8, p. 1, doi. 10.1186/s13039-015-0179-7
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- Article
The Importance of School Leadership Support when Working with Students with Smith-Magenis Syndrome – A Q Methodology Study.
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- International Journal of Disability, Development & Education, 2023, v. 70, n. 3, p. 340, doi. 10.1080/1034912X.2021.1888893
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- Article
School Staff's Experiences and Coping Related to the Challenging Behaviour of Children with Smith-Magenis Syndrome in Schools: A Q Methodological Study.
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- International Journal of Disability, Development & Education, 2022, v. 69, n. 5, p. 1473, doi. 10.1080/1034912X.2020.1780199
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- Article
Caring for the Caregivers: An Investigation of Factors Related to Well-Being Among Parents Caring for a Child with Smith-Magenis Syndrome.
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- Journal of Genetic Counseling, 2010, v. 19, n. 2, p. 187, doi. 10.1007/s10897-009-9273-5
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- Article
Smith-Magenis Syndrome and Social Security Administration's Compassionate Allowances Initiative: An Evaluative Review of the Literature.
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- 2016
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- Publication type:
- journal article
Differential gene expression of 36-kDa microfibril-associated glycoprotein (MAGP-36/MFAP4) in rat organs.
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- Cell & Tissue Research, 2008, v. 332, n. 2, p. 271, doi. 10.1007/s00441-008-0587-7
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- Article
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
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- Human Genetics, 2017, v. 136, n. 4, p. 409, doi. 10.1007/s00439-017-1767-x
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- Article
Nonrecurrent PMP22- RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.
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- Human Genetics, 2016, v. 135, n. 10, p. 1161, doi. 10.1007/s00439-016-1703-5
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- Article
Overdiagnosis of Dementia in Young Patients - A Nationwide Register-Based Study.
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- Dementia & Geriatric Cognitive Disorders, 2013, v. 34, n. 5/6, p. 292, doi. 10.1159/000345485
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- 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
Application of an improved targeted next generation sequencing method to diagnose non-syndromic mental retardation in one step: A case report.
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- Molecular Medicine Reports, 2018, v. 18, n. 1, p. 981, doi. 10.3892/mmr.2018.9031
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- Article
Smith-Magenis syndrome in monozygotic twin fetuses presenting with discordant phenotypes and uteroplacental insufficiency.
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- Molecular Medicine Reports, 2016, v. 13, n. 1, p. 347, doi. 10.3892/mmr.2015.4538
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- Article
Dietary Regimens Modify Early Onset of Obesity in Mice Haploinsufficient for <i>Rai1</i>.
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- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0105077
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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
Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion.
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- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022861
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- Article
IN BRIEF.
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- Nature Reviews Genetics, 2007, v. 8, n. 3, p. 167, doi. 10.1038/nrg2079
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- Article
Vascular Ring and Ventricular Septal Defect in a Premature Baby with Smith--Magenis Syndrome.
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- Journal of Clinical Neonatology, 2018, v. 7, n. 1, p. 54, doi. 10.4103/jcn.JCN_72_17
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- Article
Dermatologic Features of Smith-Magenis Syndrome.
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- Pediatric Dermatology, 2015, v. 32, n. 3, p. 337, doi. 10.1111/pde.12517
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- Article
Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities.
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- Genomics Insights, 2010, n. 3, p. 9
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- Article
Using a Functional Analysis Followed by Differential Reinforcement and Extinction to Reduce Challenging Behaviors in Children With Smith-Magenis Syndrome.
- Published in:
- 2018
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- Publication type:
- journal article