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 *

118 related articles for article (PubMed ID: 35846140)

  • 1. Novel Variant Expands the Clinical Spectrum of CUX2-Associated Developmental and Epileptic Encephalopathies.
    Zhang F; Li F; Chen F; Huang J; Luo Q; Du X; Zhou J; Gu W; Xu K
    Front Genet; 2022; 13():808181. PubMed ID: 35846140
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.
    Chatron N; Møller RS; Champaigne NL; Schneider AL; Kuechler A; Labalme A; Simonet T; Baggett L; Bardel C; Kamsteeg EJ; Pfundt R; Romano C; Aronsson J; Alberti A; Vinci M; Miranda MJ; Lacroix A; Marjanovic D; des Portes V; Edery P; Wieczorek D; Gardella E; Scheffer IE; Mefford H; Sanlaville D; Carvill GL; Lesca G
    Ann Neurol; 2018 May; 83(5):926-934. PubMed ID: 29630738
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder.
    Barington M; Risom L; Ek J; Uldall P; Ostergaard E
    Eur J Hum Genet; 2018 Sep; 26(9):1388-1391. PubMed ID: 29795476
    [TBL] [Abstract][Full Text] [Related]  

  • 4. De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.
    Manivannan SN; Roovers J; Smal N; Myers CT; Turkdogan D; Roelens F; Kanca O; Chung HL; Scholz T; Hermann K; Bierhals T; Caglayan HS; Stamberger H; ; Mefford H; de Jonghe P; Yamamoto S; Weckhuysen S; Bellen HJ
    Brain; 2022 Jun; 145(5):1684-1697. PubMed ID: 34788397
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
    Kanani F; Titheradge H; Cooper N; Elmslie F; Lees MM; Juusola J; Pisani L; McKenna C; Mignot C; Valence S; Keren B; Lachlan K; ; Balasubramanian M
    Am J Med Genet A; 2020 Apr; 182(4):713-720. PubMed ID: 31926053
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family.
    Yi Z; Song Z; Xue J; Yang C; Li F; Pan H; Feng X; Zhang Y; Pan H
    BMC Med Genomics; 2022 Oct; 15(1):216. PubMed ID: 36243722
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Neonatal epileptic encephalopathy caused by de novo GNAO1 mutation misdiagnosed as atypical Rett syndrome: Cautions in interpretation of genomic test results.
    Gerald B; Ramsey K; Belnap N; Szelinger S; Siniard AL; Balak C; Russell M; Richholt R; De Both M; Claasen AM; Schrauwen I; Huentelman MJ; Craig DW; Rangasamy S; Narayanan V
    Semin Pediatr Neurol; 2018 Jul; 26():28-32. PubMed ID: 29961512
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].
    Wu MJ; Hu CH; Ma JH; Hu JS; Liu ZS; Sun D
    Zhonghua Er Ke Za Zhi; 2021 Jul; 59(7):594-599. PubMed ID: 34405643
    [No Abstract]   [Full Text] [Related]  

  • 10. ARHGEF9 gene variant leads to developmental and epileptic encephalopathy: Genotypic phenotype analysis and treatment exploration.
    Yang H; Liao H; Gan S; Xiao T; Wu L
    Mol Genet Genomic Med; 2022 Jul; 10(7):e1967. PubMed ID: 35638461
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel de novo frameshift variant in the CHD2 gene related to intellectual and developmental disability, seizures and speech problems.
    Mir A; Song Y; Lee H; Nadeali Z; Tabatabaiefar MA
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2305. PubMed ID: 37877434
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Truncated DNM1 variant underlines developmental delay and epileptic encephalopathy.
    Afsar T; Huang X; Shah AA; Abbas S; Bano S; Mahmood A; Hu J; Razak S; Umair M
    Front Pediatr; 2023; 11():1266376. PubMed ID: 37900685
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel IARS1 variants cause syndromic developmental disorder with epilepsy in a Chinese patient and the literature review.
    Jiang J; Feng Y; Tang Q; Zhao C; Guo M; Wu J; Guo R; Lu H; Sun X; Gao J; Xue H
    Mol Genet Genomic Med; 2024 Jan; 12(1):e2326. PubMed ID: 38014478
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Exome sequencing reveals new causal mutations in children with epileptic encephalopathies.
    Veeramah KR; Johnstone L; Karafet TM; Wolf D; Sprissler R; Salogiannis J; Barth-Maron A; Greenberg ME; Stuhlmann T; Weinert S; Jentsch TJ; Pazzi M; Restifo LL; Talwar D; Erickson RP; Hammer MF
    Epilepsia; 2013 Jul; 54(7):1270-81. PubMed ID: 23647072
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71.
    Bazgir A; Agha Gholizadeh M; Kahani SM; Tavasoli AR; Garshasbi M
    Neurogenetics; 2024 Jul; 25(3):225-232. PubMed ID: 38622440
    [TBL] [Abstract][Full Text] [Related]  

  • 16. CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate.
    Suzuki T; Tatsukawa T; Sudo G; Delandre C; Pai YJ; Miyamoto H; Raveau M; Shimohata A; Ohmori I; Hamano SI; Haginoya K; Uematsu M; Takahashi Y; Morimoto M; Fujimoto S; Osaka H; Oguni H; Osawa M; Ishii A; Hirose S; Kaneko S; Inoue Y; Moore AW; Yamakawa K
    Sci Rep; 2022 May; 12(1):6505. PubMed ID: 35581205
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Novel CAD gene mutations in a boy with developmental and epileptic encephalopathy 50 with dramatic response to uridine therapy: a case report and a review of the literature.
    Duan L; Ye L; Yin R; Sun Y; Yu W; Zhang Y; Zhong H; Bao X; Tian X
    BMC Pediatr; 2024 Mar; 24(1):160. PubMed ID: 38454370
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by
    Mukherjee S; Cassini TA; Hu N; Yang T; Li B; Shen W; Moth CW; Rinker DC; Sheehan JH; Cogan JD; ; Newman JH; Hamid R; Macdonald RL; Roden DM; Meiler J; Kuenze G; Phillips JA; Capra JA
    HGG Adv; 2022 Oct; 3(4):100131. PubMed ID: 36035247
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Loss-of-function variants in
    Yigit G; Sheffer R; Daana M; Li Y; Kaygusuz E; Mor-Shakad H; Altmüller J; Nürnberg P; Douiev L; Kaulfuss S; Burfeind P; Wollnik B; Brockmann K
    J Med Genet; 2022 Jun; 59(6):549-553. PubMed ID: 34172529
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.