838 related articles for article (PubMed ID: 28576131)
1. 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]
2. Identification of an individual with a SYGNAP1 pathogenic mutation in India.
Verma V; Mandora A; Botre A; Clement JP
Mol Biol Rep; 2020 Nov; 47(11):9225-9234. PubMed ID: 33090308
[TBL] [Abstract][Full Text] [Related]
3. De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.
Parker MJ; Fryer AE; Shears DJ; Lachlan KL; McKee SA; Magee AC; Mohammed S; Vasudevan PC; Park SM; Benoit V; Lederer D; Maystadt I; Study D; FitzPatrick DR
Am J Med Genet A; 2015 Oct; 167A(10):2231-7. PubMed ID: 26079862
[TBL] [Abstract][Full Text] [Related]
4. Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability.
Mir A; Song Y; Lee H; Nadeali Z; Akbarian F; Tabatabaiefar MA
Lab Med; 2024 Mar; 55(2):204-208. PubMed ID: 37467311
[TBL] [Abstract][Full Text] [Related]
5. Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
Berryer MH; Hamdan FF; Klitten LL; Møller RS; Carmant L; Schwartzentruber J; Patry L; Dobrzeniecka S; Rochefort D; Neugnot-Cerioli M; Lacaille JC; Niu Z; Eng CM; Yang Y; Palardy S; Belhumeur C; Rouleau GA; Tommerup N; Immken L; Beauchamp MH; Patel GS; Majewski J; Tarnopolsky MA; Scheffzek K; Hjalgrim H; Michaud JL; Di Cristo G
Hum Mutat; 2013 Feb; 34(2):385-94. PubMed ID: 23161826
[TBL] [Abstract][Full Text] [Related]
6. Novel SYNGAP1 variant in a patient with intellectual disability and distinctive dysmorphisms.
Kimura Y; Akahira-Azuma M; Harada N; Enomoto Y; Tsurusaki Y; Kurosawa K
Congenit Anom (Kyoto); 2018 Nov; 58(6):188-190. PubMed ID: 29381230
[TBL] [Abstract][Full Text] [Related]
7. Comprehensive phenotypes of patients with SYNGAP1-related disorder reveals high rates of epilepsy and autism.
Wiltrout K; Brimble E; Poduri A
Epilepsia; 2024 May; 65(5):1428-1438. PubMed ID: 38470175
[TBL] [Abstract][Full Text] [Related]
8. SYNGAP1 Mutation in Focal and Generalized Epilepsy: A Literature Overview and A Case Report with Special Aspects of the EEG.
von Stülpnagel C; Funke C; Haberl C; Hörtnagel K; Jüngling J; Weber YG; Staudt M; Kluger G
Neuropediatrics; 2015 Aug; 46(4):287-91. PubMed ID: 26110312
[TBL] [Abstract][Full Text] [Related]
9. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
Courcet JB; Faivre L; Malzac P; Masurel-Paulet A; Lopez E; Callier P; Lambert L; Lemesle M; Thevenon J; Gigot N; Duplomb L; Ragon C; Marle N; Mosca-Boidron AL; Huet F; Philippe C; Moncla A; Thauvin-Robinet C
J Med Genet; 2012 Dec; 49(12):731-6. PubMed ID: 23099646
[TBL] [Abstract][Full Text] [Related]
10. 6p21.3 microdeletion involving the SYNGAP1 gene in a patient with intellectual disability, seizures, and severe speech impairment.
Writzl K; Knegt AC
Am J Med Genet A; 2013 Jul; 161A(7):1682-5. PubMed ID: 23687080
[TBL] [Abstract][Full Text] [Related]
11. [Identification of a novel SYNGAP1 mutation in a child with intellectual disability].
Lu J; Zhang Y; Han C; Zhu J; Wang J; Yao R
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Jul; 36(7):716-719. PubMed ID: 31302919
[TBL] [Abstract][Full Text] [Related]
12. Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression.
Jimenez-Gomez A; Niu S; Andujar-Perez F; McQuade EA; Balasa A; Huss D; Coorg R; Quach M; Vinson S; Risen S; Holder JL
J Neurodev Disord; 2019 Aug; 11(1):18. PubMed ID: 31395010
[TBL] [Abstract][Full Text] [Related]
13. Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patients.
Prokudin I; Li D; He S; Guo Y; Goodwin L; Wilson M; Rose L; Tian L; Chen Y; Liang J; Keating B; Xu X; Jamieson RV; Hakonarson H
Clin Exp Ophthalmol; 2015 Mar; 43(2):132-8. PubMed ID: 25060287
[TBL] [Abstract][Full Text] [Related]
14. [A case of mental retardation caused by a frameshift variant of SYNGAP1 gene].
Shen Y; Luo G; Lu C; Tan Y; Cheng T; Qian X; Li N; Luo M; Cao Z; Ma X; Zhao Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jan; 40(1):57-61. PubMed ID: 36585002
[TBL] [Abstract][Full Text] [Related]
15. Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases.
von Stülpnagel C; Hartlieb T; Borggräfe I; Coppola A; Gennaro E; Eschermann K; Kiwull L; Kluger F; Krois I; Møller RS; Rössler F; Santulli L; Schwermer C; Wallacher-Scholz B; Zara F; Wolf P; Kluger G
Seizure; 2019 Feb; 65():131-137. PubMed ID: 30685520
[TBL] [Abstract][Full Text] [Related]
16. Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review.
Zhao A; Zhou R; Gu Q; Liu M; Zhang B; Huang J; Yang B; Yao R; Wang J; Lv H; Wang J; Shen Y; Wang H; Chen X
Clin Chim Acta; 2021 Dec; 523():10-18. PubMed ID: 34478686
[TBL] [Abstract][Full Text] [Related]
17. De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.
Fritzen D; Kuechler A; Grimmel M; Becker J; Peters S; Sturm M; Hundertmark H; Schmidt A; Kreiß M; Strom TM; Wieczorek D; Haack TB; Beck-Wödl S; Cremer K; Engels H
Hum Genet; 2018 May; 137(5):401-411. PubMed ID: 29796876
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Mouse models of
Araki Y; Gerber EE; Rajkovich KE; Hong I; Johnson RC; Lee HK; Kirkwood A; Huganir RL
bioRxiv; 2023 May; ():. PubMed ID: 37293116
[TBL] [Abstract][Full Text] [Related]
20. [Autosomal dominant mental retardation type 5 caused by
Wang XL; Tian YN; Chen C; Peng J
Zhongguo Dang Dai Er Ke Za Zhi; 2023 May; 25(5):489-496. PubMed ID: 37272175
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]