366 related articles for article (PubMed ID: 26740508)
1. Identification of novel genetic causes of Rett syndrome-like phenotypes.
Lopes F; Barbosa M; Ameur A; Soares G; de Sá J; Dias AI; Oliveira G; Cabral P; Temudo T; Calado E; Cruz IF; Vieira JP; Oliveira R; Esteves S; Sauer S; Jonasson I; Syvänen AC; Gyllensten U; Pinto D; Maciel P
J Med Genet; 2016 Mar; 53(3):190-9. PubMed ID: 26740508
[TBL] [Abstract][Full Text] [Related]
2. Pathogenic Variants in
Cogliati F; Giorgini V; Masciadri M; Bonati MT; Marchi M; Cracco I; Gentilini D; Peron A; Savini MN; Spaccini L; Scelsa B; Maitz S; Veneselli E; Prato G; Pintaudi M; Moroni I; Vignoli A; Larizza L; Russo S
Int J Mol Sci; 2019 Jul; 20(15):. PubMed ID: 31344879
[TBL] [Abstract][Full Text] [Related]
3. Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama K; Mizuguchi T; Takeshita E; Nakagawa E; Okazaki T; Nomura Y; Iijima Y; Kajiura I; Sugai K; Saito T; Sasaki M; Yuge K; Saikusa T; Okamoto N; Takahashi S; Amamoto M; Tomita I; Kumada S; Anzai Y; Hoshino K; Fattal-Valevski A; Shiroma N; Ohfu M; Moroto M; Tanda K; Nakagawa T; Sakakibara T; Nabatame S; Matsuo M; Yamamoto A; Yukishita S; Inoue K; Waga C; Nakamura Y; Watanabe S; Ohba C; Sengoku T; Fujita A; Mitsuhashi S; Miyatake S; Takata A; Miyake N; Ogata K; Ito S; Saitsu H; Matsuishi T; Goto YI; Matsumoto N
J Med Genet; 2019 Jun; 56(6):396-407. PubMed ID: 30842224
[TBL] [Abstract][Full Text] [Related]
4. Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.
Allou L; Julia S; Amsallem D; El Chehadeh S; Lambert L; Thevenon J; Duffourd Y; Saunier A; Bouquet P; Pere S; Moustaïne A; Ruaud L; Roth V; Jonveaux P; Philippe C
Clin Genet; 2017 Mar; 91(3):431-440. PubMed ID: 27062609
[TBL] [Abstract][Full Text] [Related]
5. Rett and Rett-like syndrome: Expanding the genetic spectrum to KIF1A and GRIN1 gene.
Wang J; Zhang Q; Chen Y; Yu S; Wu X; Bao X
Mol Genet Genomic Med; 2019 Nov; 7(11):e968. PubMed ID: 31512412
[TBL] [Abstract][Full Text] [Related]
6. The most recurrent monogenic disorders that overlap with the phenotype of Rett syndrome.
Vidal S; Brandi N; Pacheco P; Maynou J; Fernandez G; Xiol C; Pascual-Alonso A; Pineda M; ; Armstrong J
Eur J Paediatr Neurol; 2019 Jul; 23(4):609-620. PubMed ID: 31105003
[TBL] [Abstract][Full Text] [Related]
7. Whole exome sequencing identifies a novel 5 Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures.
Vineeth VS; Dutta UR; Tallapaka K; Das Bhowmik A; Dalal A
Gene; 2018 Oct; 673():56-60. PubMed ID: 29920362
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 21982064
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Technological Improvements in the Genetic Diagnosis of Rett Syndrome Spectrum Disorders.
Xiol C; Heredia M; Pascual-Alonso A; Oyarzabal A; Armstrong J
Int J Mol Sci; 2021 Sep; 22(19):. PubMed ID: 34638716
[TBL] [Abstract][Full Text] [Related]
11. De novo SHANK3 mutation causes Rett syndrome-like phenotype in a female patient.
Hara M; Ohba C; Yamashita Y; Saitsu H; Matsumoto N; Matsuishi T
Am J Med Genet A; 2015 Jul; 167(7):1593-6. PubMed ID: 25931020
[TBL] [Abstract][Full Text] [Related]
12. Whole exome sequencing reveals a de novo missense variant in
Kaur S; Van Bergen NJ; Gold WA; Eggers S; Lunke S; White SM; Ellaway C; Christodoulou J
Clin Case Rep; 2019 Dec; 7(12):2476-2482. PubMed ID: 31893083
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 22001500
[TBL] [Abstract][Full Text] [Related]
14. SATB2-associated syndrome presenting with Rett-like phenotypes.
Lee JS; Yoo Y; Lim BC; Kim KJ; Choi M; Chae JH
Clin Genet; 2016 Jun; 89(6):728-32. PubMed ID: 26596517
[TBL] [Abstract][Full Text] [Related]
15. Atypical Rett syndrome with selective FOXG1 deletion detected by comparative genomic hybridization: case report and review of literature.
Jacob FD; Ramaswamy V; Andersen J; Bolduc FV
Eur J Hum Genet; 2009 Dec; 17(12):1577-81. PubMed ID: 19623215
[TBL] [Abstract][Full Text] [Related]
16. Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature.
Schönewolf-Greulich B; Bisgaard AM; Møller RS; Dunø M; Brøndum-Nielsen K; Kaur S; Van Bergen NJ; Lunke S; Eggers S; Jespersgaard C; Christodoulou J; Tümer Z
Clin Genet; 2019 Feb; 95(2):221-230. PubMed ID: 29023665
[TBL] [Abstract][Full Text] [Related]
17. Concurrent exome-targeted next-generation sequencing and single nucleotide polymorphism array to identify the causative genetic aberrations of isolated Mayer-Rokitansky-Küster-Hauser syndrome.
Chen MJ; Wei SY; Yang WS; Wu TT; Li HY; Ho HN; Yang YS; Chen PL
Hum Reprod; 2015 Jul; 30(7):1732-42. PubMed ID: 25924657
[TBL] [Abstract][Full Text] [Related]
18. 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. PubMed ID: 26852508
[TBL] [Abstract][Full Text] [Related]
19. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Rauch A; Wieczorek D; Graf E; Wieland T; Endele S; Schwarzmayr T; Albrecht B; Bartholdi D; Beygo J; Di Donato N; Dufke A; Cremer K; Hempel M; Horn D; Hoyer J; Joset P; Röpke A; Moog U; Riess A; Thiel CT; Tzschach A; Wiesener A; Wohlleber E; Zweier C; Ekici AB; Zink AM; Rump A; Meisinger C; Grallert H; Sticht H; Schenck A; Engels H; Rappold G; Schröck E; Wieacker P; Riess O; Meitinger T; Reis A; Strom TM
Lancet; 2012 Nov; 380(9854):1674-82. PubMed ID: 23020937
[TBL] [Abstract][Full Text] [Related]
20. Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.
Philippe C; Amsallem D; Francannet C; Lambert L; Saunier A; Verneau F; Jonveaux P
J Med Genet; 2010 Jan; 47(1):59-65. PubMed ID: 19564653
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
