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Items: 1 to 20 of 37

1.

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.

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.

J Med Genet. 2007 Feb;44(2):148-52. Epub 2006 Aug 11.

2.

Rett syndrome in Australia: a review of the epidemiology.

Laurvick CL, de Klerk N, Bower C, Christodoulou J, Ravine D, Ellaway C, Williamson S, Leonard H.

J Pediatr. 2006 Mar;148(3):347-52.

PMID:
16615965
3.

Neurophysiology of Rett syndrome.

Glaze DG.

J Child Neurol. 2005 Sep;20(9):740-6. Review.

PMID:
16225829
4.

Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome.

Amir RE, Fang P, Yu Z, Glaze DG, Percy AK, Zoghbi HY, Roa BB, Van den Veyver IB.

J Med Genet. 2005 Feb;42(2):e15. No abstract available.

5.

Rett syndrome in females with CTS hot spot deletions: a disorder profile.

Smeets E, Terhal P, Casaer P, Peters A, Midro A, Schollen E, van Roozendaal K, Moog U, Matthijs G, Herbergs J, Smeets H, Curfs L, Schrander-Stumpel C, Fryns JP.

Am J Med Genet A. 2005 Jan 15;132A(2):117-20.

PMID:
15578576
6.

MECP2 structural and 3'-UTR variants in schizophrenia, autism and other psychiatric diseases: a possible association with autism.

Shibayama A, Cook EH Jr, Feng J, Glanzmann C, Yan J, Craddock N, Jones IR, Goldman D, Heston LL, Sommer SS.

Am J Med Genet B Neuropsychiatr Genet. 2004 Jul 1;128B(1):50-3.

PMID:
15211631
7.

Rett syndrome: a prototypical neurodevelopmental disorder.

Neul JL, Zoghbi HY.

Neuroscientist. 2004 Apr;10(2):118-28. Review.

PMID:
15070486
8.

Phenotypic manifestations of MECP2 mutations in classical and atypical Rett syndrome.

Schanen C, Houwink EJ, Dorrani N, Lane J, Everett R, Feng A, Cantor RM, Percy A.

Am J Med Genet A. 2004 Apr 15;126A(2):129-40.

PMID:
15057977
9.

Investigation of UBE3A and MECP2 in Angelman syndrome (AS) and patients with features of AS.

Hitchins MP, Rickard S, Dhalla F, Fairbrother UL, de Vries BB, Winter R, Pembrey ME, Malcolm S.

Am J Med Genet A. 2004 Mar 1;125A(2):167-72. Erratum in: Am J Med Genet A. 2005 Jun 15;135(3):346. Fairbrother, Una L [added].

PMID:
14981718
10.

MECP2 analysis in mentally retarded patients: implications for routine DNA diagnostics.

Kleefstra T, Yntema HG, Nillesen WM, Oudakker AR, Mullaart RA, Geerdink N, van Bokhoven H, de Vries BB, Sistermans EA, Hamel BC.

Eur J Hum Genet. 2004 Jan;12(1):24-8.

11.

Rett syndrome in adolescent and adult females: clinical and molecular genetic findings.

Smeets E, Schollen E, Moog U, Matthijs G, Herbergs J, Smeets H, Curfs L, Schrander-Stumpel C, Fryns JP.

Am J Med Genet A. 2003 Oct 15;122A(3):227-33.

PMID:
12966523
12.

Features of autism in Rett syndrome and severe mental retardation.

Mount RH, Charman T, Hastings RP, Reilly S, Cass H.

J Autism Dev Disord. 2003 Aug;33(4):435-42.

PMID:
12959422
13.

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.

14.

Identification of MeCP2 mutations in a series of females with autistic disorder.

Carney RM, Wolpert CM, Ravan SA, Shahbazian M, Ashley-Koch A, Cuccaro ML, Vance JM, Pericak-Vance MA.

Pediatr Neurol. 2003 Mar;28(3):205-11.

PMID:
12770674
15.

Patients with the R133C mutation: is their phenotype different from patients with Rett syndrome with other mutations?

Leonard H, Colvin L, Christodoulou J, Schiavello T, Williamson S, Davis M, Ravine D, Fyfe S, de Klerk N, Matsuishi T, Kondo I, Clarke A, Hackwell S, Yamashita Y.

J Med Genet. 2003 May;40(5):e52. No abstract available.

16.

Study of MECP2 gene in Rett syndrome variants and autistic girls.

Zappella M, Meloni I, Longo I, Canitano R, Hayek G, Rosaia L, Mari F, Renieri A.

Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):102-7.

PMID:
12707946
18.

Influence of mutation type and location on phenotype in 123 patients with Rett syndrome.

Huppke P, Held M, Hanefeld F, Engel W, Laccone F.

Neuropediatrics. 2002 Apr;33(2):63-8.

PMID:
12075485
19.

Mutation analysis of MECP2 and clinical characterization in Korean patients with Rett syndrome.

Chae JH, Hwang YS, Kim KJ.

J Child Neurol. 2002 Jan;17(1):33-6.

PMID:
11913567
20.

Preserved speech variants of the Rett syndrome: molecular and clinical analysis.

Zappella M, Meloni I, Longo I, Hayek G, Renieri A.

Am J Med Genet. 2001 Nov 15;104(1):14-22.

PMID:
11746022
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