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Items: 1 to 20 of 112

1.

The phenotype associated with a large deletion on MECP2.

Bebbington A, Downs J, Percy A, Pineda M, Zeev BB, Bahi-Buisson N, Leonard H.

Eur J Hum Genet. 2012 Sep;20(9):921-7. doi: 10.1038/ejhg.2012.34. Epub 2012 Apr 4.

2.

Using a large international sample to investigate epilepsy in Rett syndrome.

Bao X, Downs J, Wong K, Williams S, Leonard H.

Dev Med Child Neurol. 2013 Jun;55(6):553-8. doi: 10.1111/dmcn.12093. Epub 2013 Feb 19.

3.

Updating the profile of C-terminal MECP2 deletions in Rett syndrome.

Bebbington A, Percy A, Christodoulou J, Ravine D, Ho G, Jacoby P, Anderson A, Pineda M, Ben Zeev B, Bahi-Buisson N, Smeets E, Leonard H.

J Med Genet. 2010 Apr;47(4):242-8. doi: 10.1136/jmg.2009.072553. Epub 2009 Nov 12.

4.

Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband.

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.

Eur J Hum Genet. 2007 Dec;15(12):1218-29. Epub 2007 Aug 22.

5.

Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndrome.

Cuddapah VA, Pillai RB, Shekar KV, Lane JB, Motil KJ, Skinner SA, Tarquinio DC, Glaze DG, McGwin G, Kaufmann WE, Percy AK, Neul JL, Olsen ML.

J Med Genet. 2014 Mar;51(3):152-8. doi: 10.1136/jmedgenet-2013-102113. Epub 2014 Jan 7.

6.

Investigating genotype-phenotype relationships in Rett syndrome using an international data set.

Bebbington A, Anderson A, Ravine D, Fyfe S, Pineda M, de Klerk N, Ben-Zeev B, Yatawara N, Percy A, Kaufmann WE, Leonard H.

Neurology. 2008 Mar 11;70(11):868-75. doi: 10.1212/01.wnl.0000304752.50773.ec.

PMID:
18332345
7.

Level of purposeful hand function as a marker of clinical severity in Rett syndrome.

Downs J, Bebbington A, Jacoby P, Williams AM, Ghosh S, Kaufmann WE, Leonard H.

Dev Med Child Neurol. 2010 Sep;52(9):817-23. doi: 10.1111/j.1469-8749.2010.03636.x. Epub 2010 Mar 19.

8.

Spectrum of MECP2 mutations in New Zealand Rett syndrome patients.

Raizis AM, Saleem M, MacKay R, George PM.

N Z Med J. 2009 Jun 5;122(1296):21-8.

PMID:
19652677
9.

The diagnosis of autism in a female: could it be Rett syndrome?

Young DJ, Bebbington A, Anderson A, Ravine D, Ellaway C, Kulkarni A, de Klerk N, Kaufmann WE, Leonard H.

Eur J Pediatr. 2008 Jun;167(6):661-9. Epub 2007 Aug 8.

PMID:
17684768
10.

Epilepsy in Rett syndrome--lessons from the Rett networked database.

Nissenkorn A, Levy-Drummer RS, Bondi O, Renieri A, Villard L, Mari F, Mencarelli MA, Lo Rizzo C, Meloni I, Pineda M, Armstrong J, Clarke A, Bahi-Buisson N, Mejaski BV, Djuric M, Craiu D, Djukic A, Pini G, Bisgaard AM, Melegh B, Vignoli A, Russo S, Anghelescu C, Veneselli E, Hayek J, Ben-Zeev B.

Epilepsia. 2015 Apr;56(4):569-76. doi: 10.1111/epi.12941. Epub 2015 Mar 19.

PMID:
25789914
11.

Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene.

Bartholdi D, Klein A, Weissert M, Koenig N, Baumer A, Boltshauser E, Schinzel A, Berger W, Mátyás G.

Clin Genet. 2006 Apr;69(4):319-26.

PMID:
16630165
12.

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.

13.

Large genomic rearrangements in MECP2.

Ravn K, Nielsen JB, Skjeldal OH, Kerr A, Hulten M, Schwartz M.

Hum Mutat. 2005 Mar;25(3):324.

PMID:
15712379
14.

Aspects of speech-language abilities are influenced by MECP2 mutation type in girls with Rett syndrome.

Urbanowicz A, Downs J, Girdler S, Ciccone N, Leonard H.

Am J Med Genet A. 2015 Feb;167A(2):354-62. doi: 10.1002/ajmg.a.36871. Epub 2014 Nov 26.

PMID:
25428820
15.

CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.

Maortua H, Martínez-Bouzas C, Calvo MT, Domingo MR, Ramos F, García-Ribes A, Martínez MJ, López-Aríztegui MA, Puente N, Rubio I, Tejada MI.

BMC Med Genet. 2012 Aug 6;13:68. doi: 10.1186/1471-2350-13-68.

16.

MECP2 deletions and genotype-phenotype correlation in Rett syndrome.

Scala E, Longo I, Ottimo F, Speciale C, Sampieri K, Katzaki E, Artuso R, Mencarelli MA, D'Ambrogio T, Vonella G, Zappella M, Hayek G, Battaglia A, Mari F, Renieri A, Ariani F.

Am J Med Genet A. 2007 Dec 1;143A(23):2775-84.

PMID:
17968969
17.

Genotype and early development in Rett syndrome: the value of international data.

Leonard H, Moore H, Carey M, Fyfe S, Hall S, Robertson L, Wu XR, Bao X, Pan H, Christodoulou J, Williamson S, Klerk Nd.

Brain Dev. 2005 Nov;27 Suppl 1:S59-S68. Epub 2005 Sep 22.

PMID:
16182492
18.

Molecular characteristics of Chinese patients with Rett syndrome.

Zhang X, Bao X, Zhang J, Zhao Y, Cao G, Pan H, Zhang J, Wei L, Wu X.

Eur J Med Genet. 2012 Dec;55(12):677-81. doi: 10.1016/j.ejmg.2012.08.009. Epub 2012 Aug 27.

PMID:
22982301
19.

Drug-resistant epilepsy and epileptic phenotype-EEG association in MECP2 mutated Rett syndrome.

Buoni S, Zannolli R, Felice CD, Saponari S, Strambi M, Dotti MT, Castrucci E, Corbini L, Orsi A, Hayek J.

Clin Neurophysiol. 2008 Nov;119(11):2455-8. doi: 10.1016/j.clinph.2008.08.015. Epub 2008 Oct 7.

PMID:
18842453
20.

Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2.

Kobayashi Y, Ohashi T, Akasaka N, Tohyama J.

Brain Dev. 2012 Aug;34(7):601-4. doi: 10.1016/j.braindev.2011.09.014. Epub 2011 Oct 15.

PMID:
22001500
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