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Indian Publications

Kalra V, Sud DT. Rett syndrome Indian Pediatr 1994;31:711-715.

Gupta V. Rett’s Syndrome: A case report. Indian J Psychiatry 2001;43:81-84.

Kumar S, Alexander M, Gnanamuthu C: Recent experience with Rett syndrome at a tertiary care center. Neurol India 2004;52:494-495.

Malhotra S, Kumar D, Gupta N. Rett’s syndrome – a neurodevelopmental disorder: report of two cases Neurol India 2002;50:330-333.

Banapurmath CR, Anees S.  Rett syndrome–familial recurrence. Indian J Pediatr 1995;62:499-502.

Sitholey P, Agarwal V, Srivastava R. Rett syndrome. Indian J Psyciatry 2005;47:116-118.

Khajuria R, Sapra S, Ghosh M, Gupta N, Gulati S, Kalra V, Kabra M. Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin. Genet Test Mol Biomarkers. 2009 Apr;13(2):277-280

Khajuria R, Sapra S, Ghosh M, Gupta N, Ghulati S, Kalra V, Kabra M. Novel human pathological mutations. Gene symbol: MECP2. Disease: Rett Syndrome. Hum Genet. 2010 Jan;127(1):117-118.

Khajuria R, Gupta N, Sapra S, Gulati S, Ghosh M, Kalra V, Kabra M. A Novel MECP2 Change in an Indian Boy with Variant Rett and Congenital Blindness: Implications for Genetic Counseling and Prenatal Diagnosis.  J Child Neurol. 2011 Feb;26(2)209-13

Khajuria R, Gupta N, Sapra S, Gulati S, Ghosh M, Kalra V, Kabra M. A Novel non identical MECP2 mutations in RETT syndrome family:a rare presentation.Brain Dev.2012 Jan,34(1):28-31.

Important International Publications

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 Oct;23(2):185-188.

Guy J, Hendrich B, Holmes M, Martin JE, Bird A.  A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome. Nat Genet. 2001 Mar;27(3):322-326. 

Chen RZ, Akbarian S, Tudor M, Jaenisch R. Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice. Nat Genet. 2001 Mar;27(3):327-331.

Schanen C. Rethinking the fate of males with mutations in the gene that causes Rett syndrome. Brain Dev. 2001 Dec;23 Suppl 1:S144-6.

Shahbazian M, Young J, Yuva-Paylor L, Spencer C, Antalffy B, Noebels J, Armstrong D, Paylor R, Zoghbi H. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron. 2002 Jul 18;35(2):243-254.

Moog U, Smeets EE, van Roozendaal KE, Schoenmakers S, Herbergs J, Schoonbrood-Lenssen AM, Schrander-Stumpel CT. Neurodevelopmental disorders in males related to the gene causing Rett syndrome in females (MECP2). Eur J Paediatr Neurol. 2003;7(1):5-12.

Naidu S, Bibat G, Kratz L, Kelley RI, Pevsner J, Hoffman E, Cuffari C, Rohde C, Blue ME, Johnston MV. Clinical variability in Rett syndrome. J Child Neurol. 2003 Oct;18(10):662-8.

Johnston MV, Blue ME, Naidu S. Rett syndrome and neuronal development. J Child Neurol. 2005 Sep;20(9):759-63.

Laurvick CL, Msall ME, Silburn S, Bower C, de Klerk N, Leonard H. Physical and mental health of mothers caring for a child with Rett syndrome. Pediatrics. 2006 Oct;118(4):e1152-64.

Bienvenu T, Chelly J. Molecular genetics of Rett syndrome: when DNA methylation goes unrecognized. Nat Rev Genet. 2006 Jun;7(6):415-426.

Schanen NC. Epigenetics of autism spectrum disorders. Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R138-50.

Moretti P, Zoghbi HY. MeCP2 dysfunction in Rett syndrome and related disorders.
Curr Opin Genet Dev. 2006 Jun;16(3):276-281.

Archer H, Evans J, Leonard H, Colvin L, Ravine D, Christodoulou J, Williamson S, Charman T, Bailey ME, Sampson J, de Klerk N, Clarke A. Correlation between clinical severity in patients with Rett syndrome with a p.R168X or p.T158M MECP2 mutation, and the direction and degree of skewing of X-chromosome inactivation. J Med Genet. 2007 Feb;44(2):148-52.

Guy J, Gan J, Selfridge J, Cobb S, Bird A. Reversal of neurological defects in a mouse model of Rett syndrome. Science. 2007 Feb 23;315(5815):1143-1147.

LaSalle JM. The Odyssey of MeCP2 and parental imprinting. Epigenetics. 2007 Jan-Mar;2(1):5-10.

Chahrour M, Zoghbi HY. The story of Rett syndrome: from clinic to neurobiology. Neuron. 2007 Nov 8;56(3):422-437

Young D, Nagarajan L, de Klerk N, Jacoby P, Ellaway C, Leonard H. Sleep problems in Rett syndrome. Brain Dev. 2007 Nov;29(10):609-16.

Neul JL, Fang P, Barrish J, Lane J, Caeg EB, Smith EO, Zoghbi H, Percy A, Glaze DG. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 2008 Apr 15;70(16):1313-21.

Percy AK. Rett syndrome: recent research progress. J Child Neurol. 2008 May;23(5):543-9.

Rett syndrome and long-term disorder profile. Smeets EE, Chenault M, Curfs LM, Schrander-Stumpel CT, Frijns JP. Am J Med Genet A. 2009 Feb;149A(2):199-205.

Bird A. On the track of DNA methylation: an interview with Adrian Bird by Jane Gitschier. PLoS Genet. 2009 Oct;5(10):e1000667.

Carter P, Downs J, Bebbington A, Williams S, Jacoby P, Kaufmann WE, Leonard H. Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database. Mov Disord. 2010 Feb 15;25(3):282-8.

Mahmood A, Bibat G, Zhan AL, Izbudak I, Farage L, Horska A, Mori S, Naidu S. White matter impairment in Rett syndrome: diffusion tensor imaging study with clinical correlations. AJNR Am J Neuroradiol. 2010 Feb;31(2):295-9.

Kirby RS, Lane JB, Childers J, Skinner SA, Annese F, Barrish JO, Glaze DG, Macleod P, Percy AK.Longevity in Rett syndrome: analysis of the North American Database. J Pediatr. 2010 Jan;156(1):135-138.e1.

Mencarelli MA, Spanhol-Rosseto A, Artuso R, Rondinella D, De Filippis R, Bahi-Buisson N, Nectoux J, Rubinsztajn R, Bienvenu T, Moncla A, Chabrol B, Villard L, Krumina Z, Armstrong J, Roche A, Pineda M, Gak E, Mari F, Ariani F, Renieri A. Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.. J Med Genet. 2010 Jan;47(1):49-53.

Philippe C, Amsallem D, Francannet C, Lambert L, Saunier A, Verneau F, Jonveaux P. Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females. J Med Genet. 2010 Jan;47(1):59-65..

Katz DM, Dutschmann M, Ramirez JM, Hilaire G. Breathing disorders in Rett syndrome: progressive neurochemical dysfunction in the respiratory network after birth. Respir Physiol Neurobiol. 2009 Aug 31;168(1-2):101-8.

Ben-Shachar S, Chahrour M, Thaller C, Shaw CA, Zoghbi HY. Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus. Hum Mol Genet. 2009 Jul 1;18(13):2431-42.

Lasalle JM, Yasui DH. Evolving role of MeCP2 in Rett syndrome and autism.  Epigenomics. 2009 Oct 1;1(1):119-130.

Tropeaa D, Giacomettib E, Wilsona NR, Beardb C, McCurrya C, Fub DD, Flanneryb R, Jaenischb R, Sur M. Partial reversal of Rett Syndrome-like symptoms in MeCP2 mutant mice. PNAS. 2009;106 (6): 2029-2034.

Carter P, Downs J, Bebbington A, Williams S, Jacoby P, Kaufmann WE, Leonard H. Stereotypical hand movements in 144 subjects with Rett syndrome from the population-based Australian database. Mov Disord. 2010 Feb 15;25(3):282-8.

Mahmood A, Bibat G, Zhan AL, Izbudak I, Farage L, Horska A, Mori S, Naidu S. White matter impairment in Rett syndrome: diffusion tensor imaging study with clinical correlations. AJNR Am J Neuroradiol. 2010 Feb;31(2):295-9.

Kirby RS, Lane JB, Childers J, Skinner SA, Annese F, Barrish JO, Glaze DG, Macleod P, Percy AK.Longevity in Rett syndrome: analysis of the North American Database. J Pediatr. 2010 Jan;156(1):135-138.e1.

Philippe C, Amsallem D, Francannet C, Lambert L, Saunier A, Verneau F, Jonveaux P. Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females. J Med Genet. 2010 Jan;47(1):59-65.

Downs J, Géranton SM, Bebbington A, Jacoby P, Bahi-Buisson N, Ravine D, Leonard H. Linking MECP2 and pain sensitivity: the example of Rett syndrome. Am J Med Genet A. 2010 May;152A(5):1197-205.

Cobb S, Guy J, Bird A. Reversibility of functional deficits in experimental models of Rett syndrome. Biochem Soc Trans. 2010 Apr;38(2):498-506.

Gonzales ML, LaSalle JM. The role of MeCP2 in brain development and neurodevelopmental disorders. Curr Psychiatry Rep. 2010 Apr;12(2):127-34.

Lioy DT, Garg SK, Monaghan CE, Raber J, Foust KD, Kaspar BK, Hirrlinger PG, Kirchhoff F, Bissonnette JM, Ballas N, Mandel G. A role for glia in the progression of Rett’s syndrome. Nature.2011Jun 29;475(7357):497-500

Zoghbi H. For Huda Zoghbi, collaboration is the key to unlocking the secrets of neurobiology. Interview by Kathryn Claiborn. J Clin Invest. 2011 Sep;121(9):3364.

McGraw CM, Samaco RC, Zoghbi HY. Adult neural function requires MeCP2. Science. 2011 Jul 8;333(6039):186.

Derecki NC, Cronk JC, Lu Z, Xu E, Abbott SB, Guyenet PG, Kipnis J. Wild-type microglia arrest pathology in a mouse model of Rett syndrome. Nature. 2012 Mar 18. doi: 10.1038/nature10907

Grillo E, Villard L, Clarke A, Ben Zeev B, Pineda M, Bahi-Buisson N, Hryniewiecka-Jaworska A, Bienvenu T, Armstrong J, Martinez AR, Mari F, Veneselli E, Russo S, Vignoli A, Pini G, Djuric M, Bisgaard AM, Mejaski-Bosnjak V, Polgar N, Cogliati F, Ravn K, Pintaudi M, Melegh B, Craiu D, Djukic A, Renieri A. Rett Networked Database: An integrated clinical and genetic network of Rett syndrome databases. Hum Mutat. 2012 Mar 13. doi: 10.1002/humu.22072.

Hamilton A, Marshal MP, Sucato GS, Murray PJ. Rett syndrome and menstruation. J Pediatr Adolesc Gynecol. 2012 Apr;25(2):122-6.

Bible E. Neurodevelopmental disorders: Transplantation therapy in a mouse model of Rett syndrome. Nat Rev Neurol. 2012 Apr 10. doi: 10.1038/nrneurol.2012.65.