"Rett Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An inherited neurological developmental disorder that is associated with X-LINKED INHERITANCE and may be lethal in utero to hemizygous males. The affected female is normal until the age of 6-25 months when progressive loss of voluntary control of hand movements and communication skills; ATAXIA; SEIZURES; autistic behavior; intermittent HYPERVENTILATION; and HYPERAMMONEMIA appear. (From Menkes, Textbook of Child Neurology, 5th ed, p199)
Descriptor ID |
D015518
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MeSH Number(s) |
C10.597.606.643.455.937 C16.320.322.500.937 C16.320.400.525.937
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Concept/Terms |
Rett Syndrome- Rett Syndrome
- Syndrome, Rett
- Cerebroatrophic Hyperammonemia
- Cerebroatrophic Hyperammonemias
- Hyperammonemia, Cerebroatrophic
- Hyperammonemias, Cerebroatrophic
- Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use
- Rett's Disorder
- Rett's Syndrome
- Retts Syndrome
- Syndrome, Rett's
- Autism-Dementia-Ataxia-Loss of Purposeful Hand Use Syndrome
- Autism Dementia Ataxia Loss of Purposeful Hand Use Syndrome
- Rett Disorder
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Below are MeSH descriptors whose meaning is more general than "Rett Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Rett Syndrome".
This graph shows the total number of publications written about "Rett Syndrome" by people in this website by year, and whether "Rett Syndrome" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2005 | 1 | 0 | 1 |
2008 | 1 | 0 | 1 |
2010 | 1 | 0 | 1 |
2012 | 1 | 0 | 1 |
2016 | 1 | 0 | 1 |
2018 | 0 | 1 | 1 |
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Below are the most recent publications written about "Rett Syndrome" by people in Profiles.
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Matagne V, Wondolowski J, Frerking M, Shahidullah M, Delamere NA, Sandau US, Budden S, Ojeda SR. Correcting deregulated Fxyd1 expression rescues deficits in neuronal arborization and potassium homeostasis in MeCP2 deficient male mice. Brain Res. 2018 10 15; 1697:45-52.
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Bassett E, Heinle R, Johnston D. Sleep Apnea in Patients With Rett Syndrome: Roles for Polysomnography and Adenotonsillectomy. J Child Neurol. 2016 12; 31(14):1633-1634.
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Gabos PG, Inan M, Thacker M, Borkhu B. Spinal fusion for scoliosis in Rett syndrome with an emphasis on early postoperative complications. Spine (Phila Pa 1976). 2012 Jan 15; 37(2):E90-4.
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Urdinguio RG, Fernandez AF, Lopez-Nieva P, Rossi S, Huertas D, Kulis M, Liu CG, Croce CM, Calin GA, Esteller M. Disrupted microRNA expression caused by Mecp2 loss in a mouse model of Rett syndrome. Epigenetics. 2010 Oct 1; 5(7):656-63.
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Kumar A, Kamboj S, Malone BM, Kudo S, Twiss JL, Czymmek KJ, LaSalle JM, Schanen NC. Analysis of protein domains and Rett syndrome mutations indicate that multiple regions influence chromatin-binding dynamics of the chromatin-associated protein MECP2 in vivo. J Cell Sci. 2008 Apr 1; 121(Pt 7):1128-37.
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Deidrick KM, Percy AK, Schanen NC, Mamounas L, Maria BL. Rett syndrome: pathogenesis, diagnosis, strategies, therapies, and future research directions. J Child Neurol. 2005 Sep; 20(9):708-17.