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Results: 1 to 20 of 24

1.

InterRett, a model for international data collection in a rare genetic disorder.

Louise S, Fyfe S, Bebbington A, Bahi-Buisson N, Anderson A, Pineda M, Percy A, Ben Zeev B, Wu XR, Bao X, Mac Leod P, Armstrong J, Leonard H.

Res Autism Spectr Disord. 2009 Jul;3(3). doi: 10.1016/j.rasd.2008.12.004.

PMID:
24348750
[PubMed]
Free PMC Article
2.

Role of conserved cis-regulatory elements in the post-transcriptional regulation of the human MECP2 gene involved in autism.

Bagga JS, D'Antonio LA.

Hum Genomics. 2013 Sep 16;7:19. doi: 10.1186/1479-7364-7-19.

PMID:
24040966
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

The relationship of Rett syndrome and MECP2 disorders to autism.

Neul JL.

Dialogues Clin Neurosci. 2012 Sep;14(3):253-62. Review.

PMID:
23226951
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Correlation of the vesicular acetylcholine transporter densities in the striata to the clinical abilities of women with Rett syndrome.

Brašić JR, Bibat G, Kumar A, Zhou Y, Hilton J, Yablonski ME, Dogan AS, Guevara MR, Stephane M, Johnston M, Wong DF, Naidu S.

Synapse. 2012 Jun;66(6):471-82. doi: 10.1002/syn.21515. Epub 2012 Feb 28.

PMID:
22223404
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Temporal and regional alterations in NMDA receptor expression in Mecp2-null mice.

Blue ME, Kaufmann WE, Bressler J, Eyring C, O'driscoll C, Naidu S, Johnston MV.

Anat Rec (Hoboken). 2011 Oct;294(10):1624-34. doi: 10.1002/ar.21380. Epub 2011 Sep 8.

PMID:
21901842
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations.

Ravn K, Roende G, Duno M, Fuglsang K, Eiklid KL, Tümer Z, Nielsen JB, Skjeldal OH.

Orphanet J Rare Dis. 2011 Aug 30;6:58. doi: 10.1186/1750-1172-6-58. Review.

PMID:
21878110
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Annual Research Review: Transgenic mouse models of childhood-onset psychiatric disorders.

Robertson HR, Feng G.

J Child Psychol Psychiatry. 2011 Apr;52(4):442-75. doi: 10.1111/j.1469-7610.2011.02380.x. Epub 2011 Feb 10. Review.

PMID:
21309772
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Ocular MECP2 protein expression in patients with and without Rett syndrome.

Jain D, Singh K, Chirumamilla S, Bibat GM, Blue ME, Naidu SR, Eberhart CG.

Pediatr Neurol. 2010 Jul;43(1):35-40. doi: 10.1016/j.pediatrneurol.2010.02.018.

PMID:
20682201
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Alternative polyadenylation of MeCP2: Influence of cis-acting elements and trans-acting factors.

Newnham CM, Hall-Pogar T, Liang S, Wu J, Tian B, Hu J, Lutz CS.

RNA Biol. 2010 May-Jun;7(3):361-72. Epub 2010 May 16.

PMID:
20400852
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Effects of sedation on auditory brainstem response in Rett syndrome.

Pillion JP, Bibat G, Naidu S.

Pediatr Neurol. 2010 May;42(5):331-4. doi: 10.1016/j.pediatrneurol.2010.01.003.

PMID:
20399386
[PubMed - indexed for MEDLINE]
Free PMC Article
11.

A common MECP2 haplotype associates with reduced cortical surface area in humans in two independent populations.

Joyner AH, J CR, Bloss CS, Bakken TE, Rimol LM, Melle I, Agartz I, Djurovic S, Topol EJ, Schork NJ, Andreassen OA, Dale AM.

Proc Natl Acad Sci U S A. 2009 Sep 8;106(36):15483-8. doi: 10.1073/pnas.0901866106. Epub 2009 Aug 26.

PMID:
19717458
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Brain metabolism in Rett syndrome: age, clinical, and genotype correlations.

Horská A, Farage L, Bibat G, Nagae LM, Kaufmann WE, Barker PB, Naidu S.

Ann Neurol. 2009 Jan;65(1):90-7. doi: 10.1002/ana.21562.

PMID:
19194883
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Transcranial magnetic stimulation in children.

Garvey MA, Mall V.

Clin Neurophysiol. 2008 May;119(5):973-84. doi: 10.1016/j.clinph.2007.11.048. Epub 2008 Jan 24. Review.

PMID:
18221913
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Very mild cases of Rett syndrome with skewed X inactivation.

Huppke P, Maier EM, Warnke A, Brendel C, Laccone F, Gärtner J.

J Med Genet. 2006 Oct;43(10):814-6. Epub 2006 May 11.

PMID:
16690727
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

The association between behavior and genotype in Rett syndrome using the Australian Rett Syndrome Database.

Robertson L, Hall SE, Jacoby P, Ellaway C, de Klerk N, Leonard H.

Am J Med Genet B Neuropsychiatr Genet. 2006 Mar 5;141B(2):177-83.

PMID:
16389588
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients.

Archer HL, Whatley SD, Evans JC, Ravine D, Huppke P, Kerr A, Bunyan D, Kerr B, Sweeney E, Davies SJ, Reardon W, Horn J, MacDermot KD, Smith RA, Magee A, Donaldson A, Crow Y, Hermon G, Miedzybrodzka Z, Cooper DN, Lazarou L, Butler R, Sampson J, Pilz DT, Laccone F, Clarke AJ.

J Med Genet. 2006 May;43(5):451-6. Epub 2005 Sep 23.

PMID:
16183801
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Rett syndrome: clinical review and genetic update.

Weaving LS, Ellaway CJ, Gécz J, Christodoulou J.

J Med Genet. 2005 Jan;42(1):1-7. Review.

PMID:
15635068
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.

Weaving LS, Christodoulou J, Williamson SL, Friend KL, McKenzie OL, Archer H, Evans J, Clarke A, Pelka GJ, Tam PP, Watson C, Lahooti H, Ellaway CJ, Bennetts B, Leonard H, Gécz J.

Am J Hum Genet. 2004 Dec;75(6):1079-93. Epub 2004 Oct 18.

PMID:
15492925
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of rett syndrome.

Young JI, Zoghbi HY.

Am J Hum Genet. 2004 Mar;74(3):511-20. Epub 2004 Feb 17.

PMID:
14973779
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain.

Kudo S, Nomura Y, Segawa M, Fujita N, Nakao M, Schanen C, Tamura M.

J Med Genet. 2003 Jul;40(7):487-93.

PMID:
12843318
[PubMed - indexed for MEDLINE]
Free PMC Article

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