204 related articles for article (PubMed ID: 27329731)
1. Intellectual disability and non-compaction cardiomyopathy with a de novo NONO mutation identified by exome sequencing.
Reinstein E; Tzur S; Cohen R; Bormans C; Behar DM
Eur J Hum Genet; 2016 Nov; 24(11):1635-1638. PubMed ID: 27329731
[TBL] [Abstract][Full Text] [Related]
2. Congenital heart defects and left ventricular non-compaction in males with loss-of-function variants in NONO.
Scott DA; Hernandez-Garcia A; Azamian MS; Jordan VK; Kim BJ; Starkovich M; Zhang J; Wong LJ; Darilek SA; Breman AM; Yang Y; Lupski JR; Jiwani AK; Das B; Lalani SR; Iglesias AD; Rosenfeld JA; Xia F
J Med Genet; 2017 Jan; 54(1):47-53. PubMed ID: 27550220
[TBL] [Abstract][Full Text] [Related]
3. Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects.
Mircsof D; Langouët M; Rio M; Moutton S; Siquier-Pernet K; Bole-Feysot C; Cagnard N; Nitschke P; Gaspar L; Žnidarič M; Alibeu O; Fritz AK; Wolfer DP; Schröter A; Bosshard G; Rudin M; Koester C; Crestani F; Seebeck P; Boddaert N; Prescott K; ; Hines R; Moss SJ; Fritschy JM; Munnich A; Amiel J; Brown SA; Tyagarajan SK; Colleaux L
Nat Neurosci; 2015 Dec; 18(12):1731-6. PubMed ID: 26571461
[TBL] [Abstract][Full Text] [Related]
4. Expanding the genetic and clinical spectrum of the NONO-associated X-linked intellectual disability syndrome.
Carlston CM; Bleyl SB; Andrews A; Meyers L; Brown S; Bayrak-Toydemir P; Bale JF; Botto LD
Am J Med Genet A; 2019 May; 179(5):792-796. PubMed ID: 30773818
[TBL] [Abstract][Full Text] [Related]
5. [Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects].
Langouët M; Mircsof D; Rio M; Amiel J; Brown SA; Colleaux L
Med Sci (Paris); 2016; 32(6-7):571-3. PubMed ID: 27406762
[No Abstract] [Full Text] [Related]
6. Protocadherin 19 (PCDH19) interacts with paraspeckle protein NONO to co-regulate gene expression with estrogen receptor alpha (ERα).
Pham DH; Tan CC; Homan CC; Kolc KL; Corbett MA; McAninch D; Fox AH; Thomas PQ; Kumar R; Gecz J
Hum Mol Genet; 2017 Jun; 26(11):2042-2052. PubMed ID: 28334947
[TBL] [Abstract][Full Text] [Related]
7. Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.
Prchalova D; Havlovicova M; Sterbova K; Stranecky V; Hancarova M; Sedlacek Z
BMC Med Genet; 2017 Jun; 18(1):62. PubMed ID: 28576131
[TBL] [Abstract][Full Text] [Related]
8. Case Report: Non-ossifying fibromas with pathologic fractures in a patient with
Writzl K; Mavčič B; Maver A; Hodžić A; Peterlin B
Front Genet; 2023; 14():1167054. PubMed ID: 37533431
[TBL] [Abstract][Full Text] [Related]
9. p54nrb/NONO regulates cyclic AMP-dependent glucocorticoid production by modulating phosphodiesterase mRNA splicing and degradation.
Lu JY; Sewer MB
Mol Cell Biol; 2015 Apr; 35(7):1223-37. PubMed ID: 25605330
[TBL] [Abstract][Full Text] [Related]
10. Novel hemizygous loss-of-function variant in NONO identified in a South African boy.
Coetzer KC; Moosa S
Am J Med Genet A; 2022 Jan; 188(1):373-376. PubMed ID: 34549882
[TBL] [Abstract][Full Text] [Related]
11. Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO.
Sewani M; Nugent K; Blackburn PR; Tarnowski JM; Hernandez-Garcia A; Amiel J; Whalen S; Keren B; Courtin T; Rosenfeld JA; Yang Y; Patterson MC; Pichurin P; McLean SD; Scott DA
Am J Med Genet A; 2020 Apr; 182(4):652-658. PubMed ID: 31883306
[TBL] [Abstract][Full Text] [Related]
12. Arginine methylation and citrullination of splicing factor proline- and glutamine-rich (SFPQ/PSF) regulates its association with mRNA.
Snijders AP; Hautbergue GM; Bloom A; Williamson JC; Minshull TC; Phillips HL; Mihaylov SR; Gjerde DT; Hornby DP; Wilson SA; Hurd PJ; Dickman MJ
RNA; 2015 Mar; 21(3):347-59. PubMed ID: 25605962
[TBL] [Abstract][Full Text] [Related]
13. A de novo mutation in the X-linked PAK3 gene is the underlying cause of intellectual disability and macrocephaly in monozygotic twins.
Hertecant J; Komara M; Nagi A; Al-Zaabi O; Fathallah W; Cui H; Yang Y; Eng CM; Al Sorkhy M; Ghattas MA; Al-Gazali L; Ali BR
Eur J Med Genet; 2017 Apr; 60(4):212-216. PubMed ID: 28126652
[TBL] [Abstract][Full Text] [Related]
14. NONO ubiquitination is mediated by FBW7 and GSK3 β via a degron lost upon chromosomal rearrangement in cancer.
Alfano L; Caporaso A; Altieri A; Costa C; Forte IM; Iannuzzi CA; Barone D; Esposito L; Giordano A; Pentimalli F
J Cell Physiol; 2018 May; 233(5):4338-4344. PubMed ID: 29150959
[TBL] [Abstract][Full Text] [Related]
15. Genetic and phenotypic spectrum in the NONO-associated syndromic disorder.
Roessler F; Beck AE; Susie B; Tobias B; Begtrup A; Biskup S; Caluseriu O; Delanty N; Fröhlich C; Greally MT; Karnstedt M; Klöckner C; Kurtzberg J; Schubert S; Schulze M; Weidenbach M; Westphal DS; White M; Wolf CM; Zyskind J; Popp B; Strehlow V
Am J Med Genet A; 2023 Feb; 191(2):469-478. PubMed ID: 36426740
[TBL] [Abstract][Full Text] [Related]
16. Gonadal mosaicism of a novel IQSEC2 variant causing female limited intellectual disability and epilepsy.
Ewans LJ; Field M; Zhu Y; Turner G; Leffler M; Dinger ME; Cowley MJ; Buckley MF; Scheffer IE; Jackson MR; Roscioli T; Shoubridge C
Eur J Hum Genet; 2017 Jun; 25(6):763-767. PubMed ID: 28295038
[TBL] [Abstract][Full Text] [Related]
17. Functional Defects From Endocrine Disease-Associated Mutations in HLXB9 and Its Interacting Partner, NONO.
Kharade SS; Parekh VI; Agarwal SK
Endocrinology; 2018 Feb; 159(2):1199-1212. PubMed ID: 29309627
[TBL] [Abstract][Full Text] [Related]
18. Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.
Pinto AM; Bianciardi L; Mencarelli MA; Imperatore V; Di Marco C; Furini S; Suppiej A; Salviati L; Tenconi R; Ariani F; Mari F; Renieri A
Brain Dev; 2016 Jun; 38(6):590-6. PubMed ID: 26754451
[TBL] [Abstract][Full Text] [Related]
19. De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth.
Schäfgen J; Cremer K; Becker J; Wieland T; Zink AM; Kim S; Windheuser IC; Kreiß M; Aretz S; Strom TM; Wieczorek D; Engels H
Eur J Hum Genet; 2016 Dec; 24(12):1739-1745. PubMed ID: 27436265
[TBL] [Abstract][Full Text] [Related]
20. Exome Sequencing Identified a Splice Site Mutation in FHL1 that Causes Uruguay Syndrome, an X-Linked Disorder With Skeletal Muscle Hypertrophy and Premature Cardiac Death.
Xue Y; Schoser B; Rao AR; Quadrelli R; Vaglio A; Rupp V; Beichler C; Nelson SF; Schapacher-Tilp G; Windpassinger C; Wilcox WR
Circ Cardiovasc Genet; 2016 Apr; 9(2):130-5. PubMed ID: 26933038
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
