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Silent angels the genetic and clinical aspects of Rett syndrome

References: 1. Midro A. T. Zespół Retta–postępy badań nad patogenezą. Neurologia Dziecięca , 2010; 19 (38), 55-63. 2. http://www.ncbi.nlm.nih.gov/gene/4204 3. Online Mendelian Inheritance In Man WWW.nbci.nlm.nih.gov/omim 4. Venancio M., Santos M., Pereria S.A et al.: An explanation for another familial case of Rett syndrome: maternal germline mosaicism. Europ J. Hum Genet 2007; 15: 902-904. 5. Shoichet S.A., Kunde S.A., Viertel P. et al.: Haploinsufficiency of novel FOXG1B variants In a patient with severe mental retadation brain

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Mutation analysis of the MECP2 gene in Romanian females with Rett syndrome

References 1. Amir RE, Van dV, I, Wan M, Tran CQ, Francke U, Zoghbi HY (1999). Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23: 185-188. 2. Hagberg B, Aicardi J, Dias K, Ramos O (1983). A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: report of 35 cases. Ann Neurol 14: 471-479. 3. Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, et al. (2010). Rett syndrome

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Clinical and Molecular Data on Mental Retardation in Bulgaria

rearrangements in MECP2. Hum Mut. 2005; 25(3): 324-329. Hardwick SA, Reuter K, Williamson SL, Vasudevan V, Donald J, Slater K, Bennetts B, Bebbington A, Leonard H, Williams SR, Smith RL, Cloosterman D, Christodoulou J. Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband. Eur J Hum Genet. 2007; 15(12): 1218-1229. Archer HL, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J. CDKL5

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Genetic diseases with impaired central respiratory control

;116(37):723-726. 19. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23(2):185-188. 20. Scala E, Ariani F, Mari F, et al. CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. J Med Genet. 2005;42(2):103-107. 21. Hagberg B. Clinical manifestations and stages of Rett syndrome. Ment Retard Dev Disabil Res Rev. 2002;8(2):61-65. 22. Neul JL, Kaufmann WE, Glaze DG, et al. Rett syndrome: revised

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A Rare Chromosomal Disorder – 14q Interstitial Deletion Syndrome

H, Murken J, Emmerich P. De novo deletion (14)(q11.2q13) including PAX9: clinical and molecular findings. J Med Genet 1999;36:233-236. 18. Mencarelli MA, Kleefstra T, Katzaki E, et al. 14q12 Microdeletion syndrome and congenital variant of Rett syndrome. Eur J Med Genet. 2009;52(2-3):148-152. doi: 10.1016/j.ejmg.2009.03.004. 19. Piccione M, Serra G, Consiglio V, et al. 14q13.1-21.1 deletion encompassing the HPE8 locus in an adolescent with intellectual disability and bilateral microphthalmia, but without holoprosencephaly. Am J Med Genet A. 2012;158A(6

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Genetic and Non Genetic Aspects of Autism Spectrum Disorders

. Autism spectrum disorder in fragile X syndrome: communication, social interaction, and specific behaviors. Am J Med Genet 2004; 129A(3): 225-234. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2 , encoding methyl-CpG-binding protein 2. Nat Genet 1999; 23(2): 185-188. Samaco RC, Nagarajan RP, Braunschweig D, LaSalle JM. Multiple pathways regulate MeCP2 expression in normal brain development and exhibit defects in autism-spectrum disorders

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Influence of Bromocriptine Plus Metformin Treatment on Glycaemia and Blood Pressure in Patients with Type 2 Diabetes Mellitus

Controls. PLoS One 10: e0143293, 2015. 39. Tan E, Scott EM . Circadian rhythms, insulin action, and glucose homeostasis. Curr Opin Clin Nutr Metab Care 17: 343-8, 2014. 40. Shi SQ, Ansari TS, McGuinness OP, Wasserman DH, Johnson CH . Circadian disruption leads to insulin resistance and obesity. Curr Biol 23: 372-81, 2013. 41. Suzuki H . [Bromocriptine improves circadian rhythm in Rett syndrome]. No To Hattatsu 23:213-4, 1991. 42. Kok P, Roelfsema F, Frölich M, van Pelt J, Meinders AE, Pijl H . Short-term treatment with bromocriptine

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Types of Integration in a Theory of Language

, J.A.S. (2007). The phi complex as a neuromarker of human social coordination. Proceedings of the National Academy of Science, 104, 8190-8195. Trevarthen, C. & Aitken, K.J. (2001). Infant intersubjectivity: Research, theory and clinical application. Journal of Child Psychology and Psychiatry, 42 (1), 3-48. Trevarthen, C. & Daniel, S. (2005). Disorganized rhythm and synchrony: Early signs of autism and Rett syndrome. Brain & Development, 27, 25-34. Turing, A.M. (1952). The chemical basis of morphogenesis

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Autism Spectrum Disorder - A Complex Genetic Disorder

-kinase lead to a potentially treatable form of autism with epilepsy. Science 2012;338:394-7. 42. Lintas C, Sacco R, Persico AM. Genome-wide expression studies in Autism spectrum disorder, Rett syndrome, and Down syndrome. Neurobiol Dis 2012;45(1):57-68. 43. Garbett K, Ebert PJ, Mitchell A, et al. Immune transcriptome alterations in the temporal cortex of subjects with autism. Neurobiol Dis 2008;30(3);303-11. 44. Purcell AE, Jeon OH, Zimmerman AW, et al. Postmortem brain abnormalities of the glutamate neurotransmitter system in autism. Neurology 2001

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Prenatal Programming of Psychopathology: The Role of Epigenetic Mechanisms / PRENATALNO PROGRAMIRANJE PSIHIJATRIJSKIH POREMEĆAJA: ULOGA EPIGENETSKIH MEHANIZAMA

-88. 44. McGill BE, Bundle SF, Yaylaoglu MB, Carson JP, Thaller C, Zoghbi HY. Enhanced anxiety and stress-induced corticosterone release are associated with increased Crh expression in a mouse model of Rett syndrome. Proc Natl Acad Sci USA 2006; 103: 18267-72. 45. Jensen Pena C, Monk C, Champagne FA. Epigenetic effects of prenatal stress on 11beta-hydroxysteroid dehydrogenase-2 in the placenta and fetal brain. PloS one 2012; 7: e39791. 46. Howerton CL, Morgan CP, Fischer DB, Bale TL. OGlcNAc transferase (OGT) as a placental biomarker of

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