165 related articles for article (PubMed ID: 38378692)
1. The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects.
Nagy A; Molay F; Hargadon S; Brito Pires C; Grant N; De La Rosa Abreu L; Chen JY; D'Souza P; Macnamara E; Tifft C; Becker C; Melo De Gusmao C; Khurana V; Neumeyer AM; Eichler FS
Orphanet J Rare Dis; 2024 Feb; 19(1):79. PubMed ID: 38378692
[TBL] [Abstract][Full Text] [Related]
2. TBL1XR1 associated intellectual disability, a new missense variant with dysmorphic features plus autism: Expanding the phenotypic spectrum.
Arroyo Carrera I; Fernández-Burriel M; Lapunzina P; Tenorio JA; García Navas VD; Márquez Isidro E
Clin Genet; 2021 Jun; 99(6):812-817. PubMed ID: 33527360
[TBL] [Abstract][Full Text] [Related]
3. A specific mutation in TBL1XR1 causes Pierpont syndrome.
Heinen CA; Jongejan A; Watson PJ; Redeker B; Boelen A; Boudzovitch-Surovtseva O; Forzano F; Hordijk R; Kelley R; Olney AH; Pierpont ME; Schaefer GB; Stewart F; van Trotsenburg AS; Fliers E; Schwabe JW; Hennekam RC
J Med Genet; 2016 May; 53(5):330-7. PubMed ID: 26769062
[TBL] [Abstract][Full Text] [Related]
4. Genotype and Phenotype Correlations for TBL1XR1 in Neurodevelopmental Disorders.
Quan Y; Zhang Q; Chen M; Wu H; Ou J; Shen Y; Li K; Xun G; Zhao J; Hu Z; Xia K; Guo H
J Mol Neurosci; 2020 Dec; 70(12):2085-2092. PubMed ID: 32524419
[TBL] [Abstract][Full Text] [Related]
5. Pierpont syndrome associated with the p.Tyr446Cys missense mutation in TBL1XR1.
Slavotinek A; Pua H; Hodoglugil U; Abadie J; Shieh J; Van Ziffle J; Kvale M; Lee H; Kwok PY; Risch N; Sabbadini M
Eur J Med Genet; 2017 Oct; 60(10):504-508. PubMed ID: 28687524
[TBL] [Abstract][Full Text] [Related]
6. A heritable microduplication encompassing TBL1XR1 causes a genomic sister-disorder for the 3q26.32 microdeletion syndrome.
Riehmer V; Erger F; Herkenrath P; Seland S; Jackels M; Wiater A; Heller R; Beck BB; Netzer C
Am J Med Genet A; 2017 Aug; 173(8):2132-2138. PubMed ID: 28574232
[TBL] [Abstract][Full Text] [Related]
7. A novel de novo pathogenic variant in TBL1XR1 as a new proposed cause of Pierpont syndrome.
Tamma PL; Streff H; Murali CN
Am J Med Genet A; 2023 Jun; 191(6):1576-1580. PubMed ID: 36843287
[TBL] [Abstract][Full Text] [Related]
8. A case of West syndrome and global developmental delay in a child with a heterozygous mutation in the TBL1XR1 gene: A case report.
Wu XH; Lin SZ; Liu ZX; Qi YF; Wang WQ; Li JY; Chen QD; Yang LL
Medicine (Baltimore); 2023 May; 102(19):e33744. PubMed ID: 37171308
[TBL] [Abstract][Full Text] [Related]
9. TBL1XR1 mutations in Pierpont syndrome are not restricted to the recurrent p.Tyr446Cys mutation.
Lemattre C; Thevenon J; Duffourd Y; Nambot S; Haquet E; Vuadelle B; Genevieve D; Sarda P; Bruel AL; Kuentz P; Wells CF; Faivre L; Willems M
Am J Med Genet A; 2018 Dec; 176(12):2813-2818. PubMed ID: 30365874
[TBL] [Abstract][Full Text] [Related]
10. Expanding the genotypic and phenotypic spectrum associated with TBL1XR1 de novo variants.
Ren M; Zheng H; Lu X; Lian W; Feng B
Gene; 2023 Nov; 886():147777. PubMed ID: 37683765
[TBL] [Abstract][Full Text] [Related]
11. A new syndrome of intellectual disability with dysmorphism due to TBL1XR1 deletion.
Pons L; Cordier MP; Labalme A; Till M; Louvrier C; Schluth-Bolard C; Lesca G; Edery P; Sanlaville D
Am J Med Genet A; 2015 Jan; 167A(1):164-8. PubMed ID: 25425123
[TBL] [Abstract][Full Text] [Related]
12. A Novel Partial Deletion of the TBL1XR1 Gene Detected Using SNP Array in a Patient with Motor Delay, Growth Failure, and Klinefelter Syndrome.
García-Payá E; Sirera Sirera P; Huertas-García I; Hernández Romero SD; Olivas García J
Cytogenet Genome Res; 2023; 163(5-6):295-300. PubMed ID: 37844553
[TBL] [Abstract][Full Text] [Related]
13. Prospective investigation of FOXP1 syndrome.
Siper PM; De Rubeis S; Trelles MDP; Durkin A; Di Marino D; Muratet F; Frank Y; Lozano R; Eichler EE; Kelly M; Beighley J; Gerdts J; Wallace AS; Mefford HC; Bernier RA; Kolevzon A; Buxbaum JD
Mol Autism; 2017; 8():57. PubMed ID: 29090079
[TBL] [Abstract][Full Text] [Related]
14. A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
Saitsu H; Tohyama J; Walsh T; Kato M; Kobayashi Y; Lee M; Tsurusaki Y; Miyake N; Goto Y; Nishino I; Ohtake A; King MC; Matsumoto N
J Hum Genet; 2014 Oct; 59(10):581-3. PubMed ID: 25102098
[TBL] [Abstract][Full Text] [Related]
15. Expanding the spectrum of TBL1XR1 deletion: Report of a patient with brain and cardiac malformations.
Vaqueiro AC; de Oliveira CP; Cordoba MS; Versiani BR; de Carvalho CX; Alves Rodrigues PG; de Oliveira SF; Mazzeu JF; Pic-Taylor A
Eur J Med Genet; 2018 Jan; 61(1):29-33. PubMed ID: 29038029
[TBL] [Abstract][Full Text] [Related]
16. De novo non-synonymous TBL1XR1 mutation alters Wnt signaling activity.
Nishi A; Numata S; Tajima A; Zhu X; Ito K; Saito A; Kato Y; Kinoshita M; Shimodera S; Ono S; Ochi S; Imamura A; Kurotaki N; Ueno SI; Iwata N; Fukui K; Imoto I; Kamiya A; Ohmori T
Sci Rep; 2017 Jun; 7(1):2887. PubMed ID: 28588275
[TBL] [Abstract][Full Text] [Related]
17. De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.
Tabet AC; Leroy C; Dupont C; Serrano E; Hernandez K; Gallard J; Pouvreau N; Gadisseux JF; Benzacken B; Verloes A
Am J Med Genet A; 2014 Sep; 164A(9):2335-7. PubMed ID: 24891185
[TBL] [Abstract][Full Text] [Related]
18. Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain.
Laskowski RA; Tyagi N; Johnson D; Joss S; Kinning E; McWilliam C; Splitt M; Thornton JM; Firth HV; ; Wright CF
Hum Mol Genet; 2016 Mar; 25(5):927-35. PubMed ID: 26740553
[TBL] [Abstract][Full Text] [Related]
19. Rare variant of TBL1XR1 in West syndrome: A case report.
Shen Y; Yuan M; Luo H; Yang Z; Liang M; Gan J
Mol Genet Genomic Med; 2022 Jul; 10(7):e1991. PubMed ID: 35611576
[TBL] [Abstract][Full Text] [Related]
20. Fusion of the TBL1XR1 and HMGA1 genes in splenic hemangioma with t(3;6)(q26;p21).
Panagopoulos I; Gorunova L; Bjerkehagen B; Lobmaier I; Heim S
Int J Oncol; 2016 Mar; 48(3):1242-50. PubMed ID: 26708416
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]