BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

191 related articles for article (PubMed ID: 38546112)

  • 1. A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review.
    Jahanpanah M; Mokhtari D; Mokaber H; Arish S; Ahmadabadi F; Davarnia B
    Mol Genet Genomic Med; 2024 Apr; 12(4):e2424. PubMed ID: 38546112
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay.
    Ben-Salem S; Gleeson JG; Al-Shamsi AM; Islam B; Hertecant J; Ali BR; Al-Gazali L
    Metab Brain Dis; 2015 Jun; 30(3):687-94. PubMed ID: 25227173
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency.
    Wang C; He G; Ge Y; Li R; Li Z; Lin Y
    Mol Genet Genomic Med; 2020 Jun; 8(6):e1235. PubMed ID: 32255274
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Ketogenic diet-responsive drug-resistant epilepsy in a case of asparagine synthetase deficiency with a novel compound heterozygous missense variant.
    Altıntaş M; Yıldırım M; Uçar Çİ; Köse E; Bektaş Ö; Teber S
    Clin Neurol Neurosurg; 2023 Jul; 230():107772. PubMed ID: 37167844
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency.
    Staklinski SJ; Snanoudj S; Guerrot AM; Vanhulle C; Lecoquierre F; Bekri S; Kilberg MS
    Int J Mol Sci; 2022 Dec; 24(1):. PubMed ID: 36613999
    [TBL] [Abstract][Full Text] [Related]  

  • 6. An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency.
    Liu L; Wang J; Li H; Dong Y; Li Y; Xia L; Yang B; Wang H; Xu Y; Cheng G; Du K; Zhang X; Zhu C; Cui S; Ren C
    Clin Chim Acta; 2022 Jun; 531():331-336. PubMed ID: 35469797
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Case report: A compound heterozygous mutations in
    Zhu L; Sun Y; Xu Y; Jin P; Ding H; Dong M
    Front Pediatr; 2023; 11():1273789. PubMed ID: 37900678
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report.
    Seidahmed MZ; Salih MA; Abdulbasit OB; Samadi A; Al Hussien K; Miqdad AM; Biary MS; Alazami AM; Alorainy IA; Kabiraj MM; Shaheen R; Alkuraya FS
    BMC Neurol; 2016 Jul; 16():105. PubMed ID: 27422383
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Epileptic encephalopathy with microcephaly in a patient with asparagine synthetase deficiency: a video-EEG report.
    Costa P; Zanus C; Faletra F; Ventura G; di Marzio GM; Cervesi C; Carrozzi M
    Epileptic Disord; 2019 Oct; 21(5):466-470. PubMed ID: 31617495
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cellular and molecular characterization of two novel asparagine synthetase gene mutations linked to asparagine synthetase deficiency.
    Staklinski SJ; Chang MC; Yu F; Collins Ruff K; Franz DN; Qian Z; Bloom LB; Merritt ME; McKenna R; Kilberg MS
    J Biol Chem; 2022 Sep; 298(9):102385. PubMed ID: 35985424
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.
    Sun J; McGillivray AJ; Pinner J; Yan Z; Liu F; Bratkovic D; Thompson E; Wei X; Jiang H; Asan ; Chopra M
    JIMD Rep; 2017; 34():1-9. PubMed ID: 27469131
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Metabolomic Profiling of Asparagine Deprivation in Asparagine Synthetase Deficiency Patient-Derived Cells.
    Chang MC; Staklinski SJ; Malut VR; Pierre GL; Kilberg MS; Merritt ME
    Nutrients; 2023 Apr; 15(8):. PubMed ID: 37111157
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Congenital microcephaly with early onset epileptic encephalopathy caused by ASNS gene mutation: A case report.
    Chen C; Hao Y; Liang J; Liu X
    Medicine (Baltimore); 2020 May; 99(22):e20507. PubMed ID: 32481472
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The first report of Japanese patients with asparagine synthetase deficiency.
    Yamamoto T; Endo W; Ohnishi H; Kubota K; Kawamoto N; Inui T; Imamura A; Takanashi JI; Shiina M; Saitsu H; Ogata K; Matsumoto N; Haginoya K; Fukao T
    Brain Dev; 2017 Mar; 39(3):236-242. PubMed ID: 27743885
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy.
    Ruzzo EK; Capo-Chichi JM; Ben-Zeev B; Chitayat D; Mao H; Pappas AL; Hitomi Y; Lu YF; Yao X; Hamdan FF; Pelak K; Reznik-Wolf H; Bar-Joseph I; Oz-Levi D; Lev D; Lerman-Sagie T; Leshinsky-Silver E; Anikster Y; Ben-Asher E; Olender T; Colleaux L; Décarie JC; Blaser S; Banwell B; Joshi RB; He XP; Patry L; Silver RJ; Dobrzeniecka S; Islam MS; Hasnat A; Samuels ME; Aryal DK; Rodriguiz RM; Jiang YH; Wetsel WC; McNamara JO; Rouleau GA; Silver DL; Lancet D; Pras E; Mitchell GA; Michaud JL; Goldstein DB
    Neuron; 2013 Oct; 80(2):429-41. PubMed ID: 24139043
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.
    Abbasi AA; Blaesius K; Hu H; Latif Z; Picker-Minh S; Khan MN; Farooq S; Khan MA; Kaindl AM
    Am J Med Genet B Neuropsychiatr Genet; 2017 Dec; 174(8):839-845. PubMed ID: 29031008
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Identification of a novel compound heterozygous SMG9 variants in a Chinese family with heart and brain malformation syndrome using whole exome sequencing.
    Yang Q; Qin Z; Zhang Q; Yi S; Yi S; Luo J
    BMC Med Genomics; 2022 Mar; 15(1):67. PubMed ID: 35321723
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Severe growth deficiency, microcephaly, intellectual disability, and characteristic facial features are due to a homozygous QARS mutation.
    Leshinsky-Silver E; Ling J; Wu J; Vinkler C; Yosovich K; Bahar S; Yanoov-Sharav M; Lerman-Sagie T; Lev D
    Neurogenetics; 2017 Jul; 18(3):141-146. PubMed ID: 28620870
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.
    Giorgio E; Ciolfi A; Biamino E; Caputo V; Di Gregorio E; Belligni EF; Calcia A; Gaidolfi E; Bruselles A; Mancini C; Cavalieri S; Molinatto C; Cirillo Silengo M; Ferrero GB; Tartaglia M; Brusco A
    Am J Med Genet A; 2016 Jul; 170(7):1772-9. PubMed ID: 27108886
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
    Alharby E; Faqeih EA; Saleh M; Alameer S; Almuntashri M; Pastore A; Samman MA; Alnawfal AM; Hashem M; Zaytuni D; Alharbi G; Almannai M; Alasmari A; Mahmoud AA; Alwadei AH; Jad L; AlOtaibi A; Al-Hakami F; Eyaid W; Alkuraya FS; Alfadhel M; Peake RWA; Almontashiri NAM
    Genet Med; 2020 Dec; 22(12):2071-2080. PubMed ID: 32741967
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.