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Journal Abstract Search

245 related items for PubMed ID: 31330985

  • 1. Smith-Magenis Syndrome: Molecular Basis of a Genetic-Driven Melatonin Circadian Secretion Disorder.
    Poisson A, Nicolas A, Bousquet I, Raverot V, Gronfier C, Demily C.
    Int J Mol Sci; 2019 Jul 19; 20(14):. PubMed ID: 31330985
    [Abstract] [Full Text] [Related]

  • 2. Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity.
    Williams SR, Zies D, Mullegama SV, Grotewiel MS, Elsea SH.
    Am J Hum Genet; 2012 Jun 08; 90(6):941-9. PubMed ID: 22578325
    [Abstract] [Full Text] [Related]

  • 3. Smith-Magenis syndrome.
    De Leersnyder H.
    Handb Clin Neurol; 2013 Jun 08; 111():295-6. PubMed ID: 23622179
    [Abstract] [Full Text] [Related]

  • 4. Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: from symptoms to treatment.
    De Leersnyder H.
    Trends Endocrinol Metab; 2006 Sep 08; 17(7):291-8. PubMed ID: 16890450
    [Abstract] [Full Text] [Related]

  • 5. Phase advance of circadian rhythms in Smith-Magenis syndrome: a case study in an adult man.
    Kocher L, Brun J, Devillard F, Azabou E, Claustrat B.
    Neurosci Lett; 2015 Jan 12; 585():144-8. PubMed ID: 25434872
    [Abstract] [Full Text] [Related]

  • 6. Smith-Magenis syndrome and its circadian influence on development, behavior, and obesity - own experience.
    Chen L, Mullegama SV, Alaimo JT, Elsea SH.
    Dev Period Med; 2015 Jan 12; 19(2):149-56. PubMed ID: 26384114
    [Abstract] [Full Text] [Related]

  • 7. [Smith-Magenis syndrome is an association of behavioral and sleep/wake circadian rhythm disorders].
    Poisson A, Nicolas A, Sanlaville D, Cochat P, De Leersnyder H, Rigard C, Franco P, des Portes V, Edery P, Demily C.
    Arch Pediatr; 2015 Jun 12; 22(6):638-45. PubMed ID: 25934608
    [Abstract] [Full Text] [Related]

  • 8. Management of Sleep Disturbances Associated with Smith-Magenis Syndrome.
    Kaplan KA, Elsea SH, Potocki L.
    CNS Drugs; 2020 Jul 12; 34(7):723-730. PubMed ID: 32495322
    [Abstract] [Full Text] [Related]

  • 9. Twenty-four-hour motor activity and body temperature patterns suggest altered central circadian timekeeping in Smith-Magenis syndrome, a neurodevelopmental disorder.
    Smith ACM, Morse RS, Introne W, Duncan WC.
    Am J Med Genet A; 2019 Feb 12; 179(2):224-236. PubMed ID: 30690916
    [Abstract] [Full Text] [Related]

  • 10. Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome.
    De Leersnyder H, De Blois MC, Claustrat B, Romana S, Albrecht U, Von Kleist-Retzow JC, Delobel B, Viot G, Lyonnet S, Vekemans M, Munnich A.
    J Pediatr; 2001 Jul 12; 139(1):111-6. PubMed ID: 11445803
    [Abstract] [Full Text] [Related]

  • 11. Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome.
    De Leersnyder H, Claustrat B, Munnich A, Verloes A.
    Mol Cell Endocrinol; 2006 Jun 27; 252(1-2):88-91. PubMed ID: 16723183
    [Abstract] [Full Text] [Related]

  • 12. [Sleep disturbance associated with Smith-Magenis syndrome].
    Pan M, Chen L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Dec 10; 38(12):1262-1265. PubMed ID: 34839521
    [Abstract] [Full Text] [Related]

  • 13. Alteration of the circadian clock in children with Smith-Magenis syndrome.
    Nováková M, Nevsímalová S, Príhodová I, Sládek M, Sumová A.
    J Clin Endocrinol Metab; 2012 Feb 10; 97(2):E312-8. PubMed ID: 22162479
    [Abstract] [Full Text] [Related]

  • 14. Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.
    Potocki L, Glaze D, Tan DX, Park SS, Kashork CD, Shaffer LG, Reiter RJ, Lupski JR.
    J Med Genet; 2000 Jun 10; 37(6):428-33. PubMed ID: 10851253
    [Abstract] [Full Text] [Related]

  • 15. Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations.
    Boone PM, Reiter RJ, Glaze DG, Tan DX, Lupski JR, Potocki L.
    Am J Med Genet A; 2011 Aug 10; 155A(8):2024-7. PubMed ID: 21739587
    [No Abstract] [Full Text] [Related]

  • 16. MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.
    Mullegama SV, Pugliesi L, Burns B, Shah Z, Tahir R, Gu Y, Nelson DL, Elsea SH.
    Eur J Hum Genet; 2015 Jun 10; 23(6):781-9. PubMed ID: 25271084
    [Abstract] [Full Text] [Related]

  • 17. [Inversion of the circadian melatonin rhythm in Smith-Magenis syndrome].
    De Leersnyder H, de Blois MC, Bresson JL, Sidi D, Claustrat B, Munnich A.
    Rev Neurol (Paris); 2003 Nov 10; 159(11 Suppl):6S21-6. PubMed ID: 14646795
    [Abstract] [Full Text] [Related]

  • 18. Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.
    Elsea SH, Williams SR.
    Expert Rev Mol Med; 2011 Apr 19; 13():e14. PubMed ID: 21545756
    [Abstract] [Full Text] [Related]

  • 19. Sleep Complaints and the 24-h Melatonin Level in Individuals with Smith-Magenis Syndrome: Assessment for Effective Intervention.
    Spruyt K, Braam W, Smits M, Curfs LM.
    CNS Neurosci Ther; 2016 Nov 19; 22(11):928-935. PubMed ID: 27743421
    [Abstract] [Full Text] [Related]

  • 20. [Sleep disturbances in Smith-Magenis syndrome: treatment with melatonin and beta-adrenergic antagonists].
    Van Thillo A, Devriendt K, Willekens D.
    Tijdschr Psychiatr; 2010 Nov 19; 52(10):719-23. PubMed ID: 20931486
    [Abstract] [Full Text] [Related]

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