Similar articles for PMID: 22190343

Year	Number of Results
2000	3
2001	3
2002	2
2003	2
2004	1
2005	2
2006	7
2007	5
2008	6
2009	6
2010	13
2011	14
2012	16
2013	8
2014	12
2015	14
2016	6
2017	8
2018	11
2019	14
2020	22
2021	20
2022	10
2023	8
2024	0

1

Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice.

Halbach NS, Smeets EE, van den Braak N, van Roozendaal KE, Blok RM, Schrander-Stumpel CT, Frijns JP, Maaskant MA, Curfs LM. Halbach NS, et al. Am J Med Genet A. 2012 Feb;158A(2):340-50. doi: 10.1002/ajmg.a.34418. Epub 2011 Dec 21. Am J Med Genet A. 2012. PMID: 22190343

2

MECP2 mutations in Czech patients with Rett syndrome and Rett-like phenotypes: novel mutations, genotype-phenotype correlations and validation of high-resolution melting analysis for mutation scanning.

Zahorakova D, Lelkova P, Gregor V, Magner M, Zeman J, Martasek P. Zahorakova D, et al. J Hum Genet. 2016 Jul;61(7):617-25. doi: 10.1038/jhg.2016.19. Epub 2016 Mar 17. J Hum Genet. 2016. PMID: 26984561

3

Neurophysiology versus clinical genetics in Rett syndrome: A multicenter study.

Halbach N, Smeets EE, Julu P, Witt-Engerström I, Pini G, Bigoni S, Hansen S, Apartopoulos F, Delamont R, van Roozendaal K, Scusa MF, Borelli P, Candel M, Curfs L. Halbach N, et al. Am J Med Genet A. 2016 Sep;170(9):2301-9. doi: 10.1002/ajmg.a.37812. Epub 2016 Jun 29. Am J Med Genet A. 2016. PMID: 27354166 Free PMC article.

4

X chromosome inactivation in Rett Syndrome and its correlations with MECP2 mutations and phenotype.

Xinhua Bao, Shengling Jiang, Fuying Song, Hong Pan, Meirong Li, Wu XR. Xinhua Bao, et al. J Child Neurol. 2008 Jan;23(1):22-5. doi: 10.1177/0883073807307077. J Child Neurol. 2008. PMID: 18184939

5

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. Psoni S, et al. Brain Dev. 2012 Jun;34(6):487-95. doi: 10.1016/j.braindev.2011.09.002. Epub 2011 Oct 6. Brain Dev. 2012. PMID: 21982064

6

Genotype-phenotype relationship among Egyptian children with Rett syndrome.

Mansour L, El Sobky E, Mohamed SM, Marzouk H, Tarek LA. Mansour L, et al. J Egypt Public Health Assoc. 2015 Sep;90(3):133-7. doi: 10.1097/01.EPX.0000469901.73624.7a. J Egypt Public Health Assoc. 2015. PMID: 26544843

7

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. Cuddapah VA, et al. J Med Genet. 2014 Mar;51(3):152-8. doi: 10.1136/jmedgenet-2013-102113. Epub 2014 Jan 7. J Med Genet. 2014. PMID: 24399845 Free PMC article.

8

Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome.

Henriksen MW, Breck H, Sejersted Y, Diseth T, von Tetzchner S, Paus B, Skjeldal OH. Henriksen MW, et al. Brain Dev. 2020 Aug;42(7):484-495. doi: 10.1016/j.braindev.2020.03.008. Epub 2020 Apr 23. Brain Dev. 2020. PMID: 32336485

9

Characterization of large deletions of the MECP2 gene in Rett syndrome patients by gene dosage analysis.

Vidal S, Pascual-Alonso A, Rabaza-Gairí M, Gerotina E, Brandi N, Pacheco P, Xiol C, Pineda M; Rett Working Group; Armstrong J. Vidal S, et al. Mol Genet Genomic Med. 2019 Aug;7(8):e793. doi: 10.1002/mgg3.793. Epub 2019 Jun 17. Mol Genet Genomic Med. 2019. PMID: 31206249 Free PMC article.

10

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. Buoni S, et al. Clin Neurophysiol. 2008 Nov;119(11):2455-8. doi: 10.1016/j.clinph.2008.08.015. Epub 2008 Oct 7. Clin Neurophysiol. 2008. PMID: 18842453

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