116 related articles for article (PubMed ID: 29369404)
1. A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.
Vuillaume ML; Jeanne M; Xue L; Blesson S; Denommé-Pichon AS; Alirol S; Brulard C; Colin E; Isidor B; Gilbert-Dussardier B; Odent S; Parent P; Donnart A; Redon R; Bézieau S; Rondard P; Laumonnier F; Toutain A
Ann Neurol; 2018 Feb; 83(2):437-439. PubMed ID: 29369404
[No Abstract] [Full Text] [Related]
2. Reply to "a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype".
Yoo Y; Cho J; Choi M
Ann Neurol; 2018 Feb; 83(2):439. PubMed ID: 29377213
[No Abstract] [Full Text] [Related]
3. GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
Yoo Y; Jung J; Lee YN; Lee Y; Cho H; Na E; Hong J; Kim E; Lee JS; Lee JS; Hong C; Park SY; Wie J; Miller K; Shur N; Clow C; Ebel RS; DeBrosse SD; Henderson LB; Willaert R; Castaldi C; Tikhonova I; Bilgüvar K; Mane S; Kim KJ; Hwang YS; Lee SG; So I; Lim BC; Choi HJ; Seong JY; Shin YB; Jung H; Chae JH; Choi M
Ann Neurol; 2017 Sep; 82(3):466-478. PubMed ID: 28856709
[TBL] [Abstract][Full Text] [Related]
4. Widening phenotypic spectrum of GABBR2 mutation.
Samanta D; Zarate YA
Acta Neurol Belg; 2019 Sep; 119(3):493-496. PubMed ID: 30707408
[No Abstract] [Full Text] [Related]
5. First report of an unusual novel double mutation affecting the transcription repression domain of MeCP2 and causing a severe phenotype of Rett syndrome: Molecular analyses and computational investigation.
Ghorbel R; Ghorbel R; Rouissi A; Fendri-Kriaa N; Ben Salah G; Belguith N; Ammar-Keskes L; Gouider-Khouja N; Fakhfakh F
Biochem Biophys Res Commun; 2018 Feb; 497(1):93-101. PubMed ID: 29421650
[TBL] [Abstract][Full Text] [Related]
6. Homozygous c.1160C>T (P38L) in the MECP2 gene in a female Rett syndrome patient.
Bhanushali AA; Mandsaurwala A; Das BR
J Clin Neurosci; 2016 Mar; 25():127-9. PubMed ID: 26755454
[TBL] [Abstract][Full Text] [Related]
7. [Rett syndrome].
Schwartzman JS
Arq Neuropsiquiatr; 2007 Jun; 65(2B):544; author reply 544-5. PubMed ID: 17665035
[No Abstract] [Full Text] [Related]
8. 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. PubMed ID: 20116947
[TBL] [Abstract][Full Text] [Related]
9. A patient with classic Rett syndrome with a novel mutation in MECP2 exon 1.
Chunshu Y; Endoh K; Soutome M; Kawamura R; Kubota T
Clin Genet; 2006 Dec; 70(6):530-1. PubMed ID: 17101000
[No Abstract] [Full Text] [Related]
10. A Novel Mutation p.A59P in N-Terminal Domain of Methyl-CpG-Binding Protein 2 Confers Phenotypic Variability in 3 Cases of Tunisian Rett Patients: Clinical Evaluations and In Silico Investigations.
Kharrat M; Hsairi I; Fendri-Kriaa N; Kenoun H; Othmen HB; Ben Mahmoud A; Ghorbel R; Abid I; Triki C; Fakhfakh F
J Child Neurol; 2015 Nov; 30(13):1715-21. PubMed ID: 25862735
[TBL] [Abstract][Full Text] [Related]
11. Mutations in the MECP2 gene are not a major cause of Rett syndrome-like or related neurodevelopmental phenotype in male patients.
Santos M; Temudo T; Kay T; Carrilho I; Medeira A; Cabral H; Gomes R; Lourenço MT; Venâncio M; Calado E; Moreira A; Oliveira G; Maciel P
J Child Neurol; 2009 Jan; 24(1):49-55. PubMed ID: 19168818
[TBL] [Abstract][Full Text] [Related]
12. Molecular diagnosis of Rett syndrome.
Huppke P; Gärtner J
J Child Neurol; 2005 Sep; 20(9):732-6. PubMed ID: 16225827
[TBL] [Abstract][Full Text] [Related]
13. Atypical features in MECP2 P152R-associated Rett syndrome.
Sheen V; Valencia IM; Torres AR
Pediatr Neurol; 2013 Aug; 49(2):124-6. PubMed ID: 23859859
[TBL] [Abstract][Full Text] [Related]
14. 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
J Hum Genet; 2016 Jul; 61(7):617-25. PubMed ID: 26984561
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 21160487
[TBL] [Abstract][Full Text] [Related]
16. Epilepsy in Rett syndrome: clinical and genetic features.
Pintaudi M; Calevo MG; Vignoli A; Parodi E; Aiello F; Baglietto MG; Hayek Y; Buoni S; Renieri A; Russo S; Cogliati F; Giordano L; Canevini M; Veneselli E
Epilepsy Behav; 2010 Nov; 19(3):296-300. PubMed ID: 20728410
[TBL] [Abstract][Full Text] [Related]
17. Molecular Testing of MECP2 Gene in Rett Syndrome Phenotypes in Indian Girls.
Lallar M; Rai A; Srivastava P; Mandal K; Gupta N; Kabra M; Phadke SR
Indian Pediatr; 2018 Jun; 55(6):474-477. PubMed ID: 29428920
[TBL] [Abstract][Full Text] [Related]
18. A WW domain binding region in methyl-CpG-binding protein MeCP2: impact on Rett syndrome.
Buschdorf JP; Strätling WH
J Mol Med (Berl); 2004 Feb; 82(2):135-43. PubMed ID: 14618241
[TBL] [Abstract][Full Text] [Related]
19. [May the dialogue between genes and environmental factors modify the behavioural phenotype of Rett syndrome and others?].
Midro AT; Midro H
Psychiatr Pol; 2006; 40(5):949-67. PubMed ID: 17217238
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 25789914
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
