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Items: 1 to 20 of 92

1.

Rett syndrome diagnostic criteria: lessons from the Natural History Study.

Percy AK, Neul JL, Glaze DG, Motil KJ, Skinner SA, Khwaja O, Lee HS, Lane JB, Barrish JO, Annese F, McNair L, Graham J, Barnes K.

Ann Neurol. 2010 Dec;68(6):951-5. doi: 10.1002/ana.22154.

2.

Rett syndrome: revised diagnostic criteria and nomenclature.

Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi-Buisson N, Leonard H, Bailey ME, Schanen NC, Zappella M, Renieri A, Huppke P, Percy AK; RettSearch Consortium.

Ann Neurol. 2010 Dec;68(6):944-50. doi: 10.1002/ana.22124.

3.

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.

4.

Mutational analysis of methyl-CpG binding protein 2 (MECP2) gene in Indian cases of Rett syndrome.

Das DK, Udani V, Sanghavi D, Adhia R, Maitra A.

J Clin Lab Anal. 2013 Mar;27(2):137-42. doi: 10.1002/jcla.21574. Epub 2013 Feb 11.

PMID:
23400946
5.

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
6.

A RETT SYNDROME CASE WITH NOVEL NON-IDENTICAL MUTATION IN MECP2 GENE.

Güngör O, Kirik S, Cevizli D, Karaokur F, Ozer L, Uysal S, Dilber C.

Genet Couns. 2015;26(4):387-92.

PMID:
26852508
7.

MECP2 mutations and clinical correlations in Greek children with Rett syndrome and associated neurodevelopmental disorders.

Psoni S, Sofocleous C, Traeger-Synodinos J, Kitsiou-Tzeli S, Kanavakis E, Fryssira-Kanioura H.

Brain Dev. 2012 Jun;34(6):487-95. doi: 10.1016/j.braindev.2011.09.002. Epub 2011 Oct 6.

PMID:
21982064
8.

Progress in Rett Syndrome: from discovery to clinical trials.

Percy AK.

Wien Med Wochenschr. 2016 Sep;166(11-12):325-32. doi: 10.1007/s10354-016-0491-9. Epub 2016 Aug 4.

9.

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.

10.

Mutational analysis of MECP2 in Japanese patients with atypical Rett syndrome.

Inui K, Akagi M, Ono J, Tsukamoto H, Shimono K, Mano T, Imai K, Yamada M, Muramatsu T, Sakai N, Okada S.

Brain Dev. 2001 Jul;23(4):212-5.

PMID:
11376998
11.

Rett syndrome with and without detected MECP2 mutations: an attempt to redefine phenotypes.

Temudo T, Santos M, Ramos E, Dias K, Vieira JP, Moreira A, Calado E, Carrilho I, Oliveira G, Levy A, Barbot C, Fonseca M, Cabral A, Cabral P, Monteiro J, Borges L, Gomes R, Mira G, Pereira SA, Santos M, Fernandes A, Epplen JT, Sequeiros J, Maciel P.

Brain Dev. 2011 Jan;33(1):69-76. doi: 10.1016/j.braindev.2010.01.004. Epub 2010 Feb 8.

PMID:
20116947
12.

Brief report: MECP2 mutations in people without Rett syndrome.

Suter B, Treadwell-Deering D, Zoghbi HY, Glaze DG, Neul JL.

J Autism Dev Disord. 2014 Mar;44(3):703-11. doi: 10.1007/s10803-013-1902-z.

13.

Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations.

Hadzsiev K, Polgar N, Bene J, Komlosi K, Karteszi J, Hollody K, Kosztolanyi G, Renieri A, Melegh B.

J Hum Genet. 2011 Mar;56(3):183-7. doi: 10.1038/jhg.2010.156. Epub 2010 Dec 16.

PMID:
21160487
14.

Rett syndrome: new clinical and molecular insights.

Williamson SL, Christodoulou J.

Eur J Hum Genet. 2006 Aug;14(8):896-903. Review.

15.

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. doi: 10.1002/ajmg.a.32491.

PMID:
19133691
16.

Is it possible to diagnose Rett syndrome before classical symptoms become obvious? Review of 24 Danish cases born between 2003 and 2012.

Bisgaard AM, Schönewolf-Greulich B, Ravn K, Rønde G.

Eur J Paediatr Neurol. 2015 Nov;19(6):679-87. doi: 10.1016/j.ejpn.2015.07.004. Epub 2015 Jul 21.

PMID:
26228846
17.

Exploring the possible link between MeCP2 and oxidative stress in Rett syndrome.

Filosa S, Pecorelli A, D'Esposito M, Valacchi G, Hajek J.

Free Radic Biol Med. 2015 Nov;88(Pt A):81-90. doi: 10.1016/j.freeradbiomed.2015.04.019. Epub 2015 May 8. Review.

PMID:
25960047
18.

Rett Syndrome and the Ongoing Legacy of Close Clinical Observation.

Zoghbi HY.

Cell. 2016 Oct 6;167(2):293-297. doi: 10.1016/j.cell.2016.09.039.

19.

Novel mutation in forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome.

Das DK, Jadhav V, Ghattargi VC, Udani V.

Gene. 2014 Mar 15;538(1):109-12. doi: 10.1016/j.gene.2013.12.063. Epub 2014 Jan 9.

PMID:
24412290
20.

Early infantile onset ''congenital'' Rett syndrome variants: Swedish experience through four decades and mutation analysis.

Rajaei S, Erlandson A, Kyllerman M, Albage M, Lundstrom I, Karrstedt EL, Hagberg B.

J Child Neurol. 2011 Jan;26(1):65-71. doi: 10.1177/0883073810374125.

PMID:
21212452

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