These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

139 related articles for article (PubMed ID: 36175372)

  • 1. DYNC1H1-related epilepsy: Genotype-phenotype correlation.
    Liu W; Cheng M; Zhu Y; Chen Y; Yang Y; Chen H; Niu X; Tian X; Yang X; Zhang Y
    Dev Med Child Neurol; 2023 Apr; 65(4):534-543. PubMed ID: 36175372
    [TBL] [Abstract][Full Text] [Related]  

  • 2. DYNC1H1 variants associated with infant-onset epilepsy without neurodevelopmental disorders.
    Wu WC; Liang XY; Zhang DM; Jin L; Liu ZG; Zeng XL; Zhai QX; Liao WP; He N; Meng XH
    Seizure; 2024 Mar; 116():119-125. PubMed ID: 37903666
    [TBL] [Abstract][Full Text] [Related]  

  • 3. De novo DYNC1H1 mutation causes infantile developmental and epileptic encephalopathy with brain malformations.
    Su T; Yan Y; Hu Q; Liu Y; Xu S
    Mol Genet Genomic Med; 2022 Mar; 10(3):e1874. PubMed ID: 35099838
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.
    Cuccurullo C; Cerulli Irelli E; Ugga L; Riva A; D'Amico A; Cabet S; Lesca G; Bilo L; Zara F; Iliescu C; Barca D; Fung F; Helbig K; Ortiz-Gonzalez X; Schelhaas HJ; Willemsen MH; van der Linden I; Canafoglia L; Courage C; Gommaraschi S; Gonzalez-Alegre P; Bardakjian T; Syrbe S; Schuler E; Lemke JR; Vari S; Roende G; Bak M; Huq M; Powis Z; Johannesen KM; Hammer TB; Møller RS; Rabin R; Pappas J; Zupanc ML; Zadeh N; Cohen J; Naidu S; Krey I; Saneto R; Thies J; Licchetta L; Tinuper P; Bisulli F; Minardi R; Bayat A; Villeneuve N; Molinari F; Salimi Dafsari H; Moller B; Le Roux M; Houdayer C; Vecchi M; Mammi I; Fiorini E; Proietti J; Ferri S; Cantalupo G; Battaglia DI; Gambardella ML; Contaldo I; Brogna C; Trivisano M; De Dominicis A; Bova SM; Gardella E; Striano P; Coppola A
    Epilepsia; 2024 Sep; 65(9):2728-2750. PubMed ID: 38953796
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Genotype and phenotype of WWOX gene related developmental and epileptic encephalopathy].
    Wang T; Cheng MM; Liu WW; Tan QZ; Liu CH; Yang Y; Yang XL; Zhang YH
    Zhonghua Er Ke Za Zhi; 2024 Aug; 62(8):752-757. PubMed ID: 39039877
    [No Abstract]   [Full Text] [Related]  

  • 6. Phenotypic spectrum of patients with GABRB2 variants: from mild febrile seizures to severe epileptic encephalopathy.
    Yang Y; Xiangwei W; Zhang X; Xiao J; Chen J; Yang X; Jia T; Yang Z; Jiang Y; Zhang Y
    Dev Med Child Neurol; 2020 Oct; 62(10):1213-1220. PubMed ID: 32686847
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Genotypes and phenotypes of IQSEC2 gene variants related epilepsy].
    Wang DH; Niu XY; Cheng MM; Chen Y; Yang Y; Yang XL; Yang ZX; Zhang YH
    Zhonghua Er Ke Za Zhi; 2022 Dec; 60(12):1317-1321. PubMed ID: 36444437
    [No Abstract]   [Full Text] [Related]  

  • 8. [Genotype and phenotype of children with DEPDC5 gene variants related epilepsy].
    Liu WW; Yang Y; Niu XY; Cheng MM; Wang S; Wu Y; Yang ZX; Liu XY; Cai LX; Jiang YW; Zhang YH
    Zhonghua Er Ke Za Zhi; 2021 Oct; 59(10):859-864. PubMed ID: 34587683
    [No Abstract]   [Full Text] [Related]  

  • 9. Two cases of DYNC1H1 mutations with intractable epilepsy.
    Matsumoto A; Kojima K; Miya F; Miyauchi A; Watanabe K; Iwamoto S; Kawai K; Kato M; Takahashi Y; Yamagata T
    Brain Dev; 2021 Sep; 43(8):857-862. PubMed ID: 34092403
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Genotypes and clinical features of neonatal-onset genetic epilepsy in 141 patients].
    Chen JY; Yang Y; Niu XY; Zhang J; Chen Y; Yang XL; Yang ZX; Jiang YW; Zhang YH
    Zhonghua Er Ke Za Zhi; 2021 Sep; 59(9):767-771. PubMed ID: 34645217
    [No Abstract]   [Full Text] [Related]  

  • 11. [Clinical phenotypes of epilepsy associated with GABRA1 gene variants].
    Yang Y; Zhang YH; Chen JY; Ma JH; Sun D; Yang XL; Zhang J; Chen Y; Wu XR
    Zhonghua Er Ke Za Zhi; 2020 Feb; 58(2):118-122. PubMed ID: 32102148
    [No Abstract]   [Full Text] [Related]  

  • 12. Genotype-phenotype correlation of CACNA1A variants in children with epilepsy.
    Niu X; Yang Y; Chen Y; Cheng M; Liu M; Ding C; Tian X; Yang Z; Jiang Y; Zhang Y
    Dev Med Child Neurol; 2022 Jan; 64(1):105-111. PubMed ID: 34263451
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
    Zerem A; Haginoya K; Lev D; Blumkin L; Kivity S; Linder I; Shoubridge C; Palmer EE; Field M; Boyle J; Chitayat D; Gaillard WD; Kossoff EH; Willems M; Geneviève D; Tran-Mau-Them F; Epstein O; Heyman E; Dugan S; Masurel-Paulet A; Piton A; Kleefstra T; Pfundt R; Sato R; Tzschach A; Matsumoto N; Saitsu H; Leshinsky-Silver E; Lerman-Sagie T
    Epilepsia; 2016 Nov; 57(11):1858-1869. PubMed ID: 27665735
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [Clinical features of epilepsies associated with GABRB2 variants].
    Yang Y; Zhang YH; Chen JY; Zhang J; Yang XL; Chen Y; Yang ZX; Wu XR
    Zhonghua Er Ke Za Zhi; 2019 Jul; 57(7):532-537. PubMed ID: 31269553
    [No Abstract]   [Full Text] [Related]  

  • 15. CHD2-related epilepsy: novel mutations and new phenotypes.
    Chen J; Zhang J; Liu A; Zhang L; Li H; Zeng Q; Yang Z; Yang X; Wu X; Zhang Y
    Dev Med Child Neurol; 2020 May; 62(5):647-653. PubMed ID: 31677157
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Phenotype study of SCN2A gene related epilepsy].
    Zeng Q; Zhang YH; Yang XL; Zhang J; Liu AJ; Liu XY; Jiang YW; Wu XR
    Zhonghua Er Ke Za Zhi; 2018 Jul; 56(7):518-523. PubMed ID: 29996185
    [No Abstract]   [Full Text] [Related]  

  • 17.
    Yang H; Gong P; Jiao X; Niu Y; Zhou Q; Zhang Y; Yang Z
    Front Neurol; 2021; 12():733178. PubMed ID: 34803881
    [No Abstract]   [Full Text] [Related]  

  • 18. Whole-exome sequencing identifies a novel de novo mutation in DYNC1H1 in epileptic encephalopathies.
    Lin Z; Liu Z; Li X; Li F; Hu Y; Chen B; Wang Z; Liu Y
    Sci Rep; 2017 Mar; 7(1):258. PubMed ID: 28325891
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Case report: Genotype and phenotype of
    Ge WR; Fu PP; Zhang WN; Zhang B; Ding YX; Yang G
    Front Neurol; 2023; 14():1163803. PubMed ID: 37181555
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Developmental and epileptic encephalopathy 85 caused by SMC1A gene truncating variation: 4 cases report and literature review].
    Ye YZ; Duan J; Hu ZQ; Cao DZ; Liao JX; Chen L
    Zhonghua Er Ke Za Zhi; 2022 Jun; 60(6):583-587. PubMed ID: 35658367
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.