BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

203 related articles for article (PubMed ID: 33811063)

  • 1. A description of novel variants and review of phenotypic spectrum in
    Briere LC; Walker MA; High FA; Cooper C; Rogers CA; Callahan CJ; Ishimura R; Ichimura Y; Caruso PA; Sharma N; Brokamp E; Koziura ME; Mohammad SS; Dale RC; Riley LG; ; Phillips JA; Komatsu M; Sweetser DA
    Cold Spring Harb Mol Case Stud; 2021 Jun; 7(3):. PubMed ID: 33811063
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters.
    Arnadottir GA; Jensson BO; Marelsson SE; Sulem G; Oddsson A; Kristjansson RP; Benonisdottir S; Gudjonsson SA; Masson G; Thorisson GA; Saemundsdottir J; Magnusson OT; Jonasdottir A; Jonasdottir A; Sigurdsson A; Gudbjartsson DF; Thorsteinsdottir U; Arngrimsson R; Sulem P; Stefansson K
    BMC Med Genet; 2017 Oct; 18(1):103. PubMed ID: 28965491
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
    Muona M; Ishimura R; Laari A; Ichimura Y; Linnankivi T; Keski-Filppula R; Herva R; Rantala H; Paetau A; Pöyhönen M; Obata M; Uemura T; Karhu T; Bizen N; Takebayashi H; McKee S; Parker MJ; Akawi N; McRae J; Hurles ME; ; Kuismin O; Kurki MI; Anttonen AK; Tanaka K; Palotie A; Waguri S; Lehesjoki AE; Komatsu M
    Am J Hum Genet; 2016 Sep; 99(3):683-694. PubMed ID: 27545674
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Allelic strengths of encephalopathy-associated
    Pan X; Alvarez AN; Ma M; Lu S; Crawford MW; Briere LC; Kanca O; Yamamoto S; Sweetser DA; Wilson JL; Napier RJ; Pruneda JN; Bellen HJ
    Elife; 2023 Dec; 12():. PubMed ID: 38079206
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Abnormal function of the UBA5 protein in a case of early developmental and epileptic encephalopathy with suppression-burst.
    Mignon-Ravix C; Milh M; Kaiser CS; Daniel J; Riccardi F; Cacciagli P; Nagara M; Busa T; Liebau E; Villard L
    Hum Mutat; 2018 Jul; 39(7):934-938. PubMed ID: 29663568
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Biallelic loss-of-function UBA5 mutations in a patient with intractable West syndrome and profound failure to thrive.
    Daida A; Hamano SI; Ikemoto S; Matsuura R; Nakashima M; Matsumoto N; Kato M
    Epileptic Disord; 2018 Aug; 20(4):313-318. PubMed ID: 30078785
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy.
    Colin E; Daniel J; Ziegler A; Wakim J; Scrivo A; Haack TB; Khiati S; Denommé AS; Amati-Bonneau P; Charif M; Procaccio V; Reynier P; Aleck KA; Botto LD; Herper CL; Kaiser CS; Nabbout R; N'Guyen S; Mora-Lorca JA; Assmann B; Christ S; Meitinger T; Strom TM; Prokisch H; ; Miranda-Vizuete A; Hoffmann GF; Lenaers G; Bomont P; Liebau E; Bonneau D
    Am J Hum Genet; 2016 Sep; 99(3):695-703. PubMed ID: 27545681
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
    Johnstone DL; Nguyen TTM; Zambonin J; Kernohan KD; St-Denis A; Baratang NV; Hartley T; Geraghty MT; Richer J; Majewski J; Bareke E; Guerin A; Pendziwiat M; Pena LDM; Braakman HMH; Gripp KW; Edmondson AC; He M; Spillmann RC; Eklund EA; Bayat A; McMillan HJ; Boycott KM; Campeau PM
    J Inherit Metab Dis; 2020 Nov; 43(6):1321-1332. PubMed ID: 32588908
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy.
    Al-Saady ML; Kaiser CS; Wakasuqui F; Korenke GC; Waisfisz Q; Polstra A; Pouwels PJW; Bugiani M; van der Knaap MS; Lunsing RJ; Liebau E; Wolf NI
    Neuropediatrics; 2021 Dec; 52(6):489-494. PubMed ID: 33853163
    [TBL] [Abstract][Full Text] [Related]  

  • 10. MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
    Trivisano M; De Dominicis A; Micalizzi A; Ferretti A; Dentici ML; Terracciano A; Calabrese C; Vigevano F; Novelli G; Novelli A; Specchio N
    Seizure; 2022 Oct; 101():211-217. PubMed ID: 36087421
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.
    MacKay CI; Wong K; Demarest ST; Benke TA; Downs J; Leonard H
    Clin Genet; 2021 Jan; 99(1):157-165. PubMed ID: 33047306
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A homozygous
    Cabrera-Serrano M; Coote DJ; Azmanov D; Goullee H; Andersen E; McLean C; Davis M; Ishimura R; Stark Z; Vallat JM; Komatsu M; Kornberg A; Ryan M; Laing NG; Ravenscroft G
    J Med Genet; 2020 Dec; 57(12):835-842. PubMed ID: 32179706
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.
    Zhang J; Liu X; Zhu G; Wan L; Liang Y; Li N; Huang M; Yang G
    Brain Behav; 2024 May; 14(5):e3535. PubMed ID: 38773790
    [TBL] [Abstract][Full Text] [Related]  

  • 14. HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.
    Marini C; Porro A; Rastetter A; Dalle C; Rivolta I; Bauer D; Oegema R; Nava C; Parrini E; Mei D; Mercer C; Dhamija R; Chambers C; Coubes C; Thévenon J; Kuentz P; Julia S; Pasquier L; Dubourg C; Carré W; Rosati A; Melani F; Pisano T; Giardino M; Innes AM; Alembik Y; Scheidecker S; Santos M; Figueiroa S; Garrido C; Fusco C; Frattini D; Spagnoli C; Binda A; Granata T; Ragona F; Freri E; Franceschetti S; Canafoglia L; Castellotti B; Gellera C; Milanesi R; Mancardi MM; Clark DR; Kok F; Helbig KL; Ichikawa S; Sadler L; Neupauerová J; Laššuthova P; Šterbová K; Laridon A; Brilstra E; Koeleman B; Lemke JR; Zara F; Striano P; Soblet J; Smits G; Deconinck N; Barbuti A; DiFrancesco D; LeGuern E; Guerrini R; Santoro B; Hamacher K; Thiel G; Moroni A; DiFrancesco JC; Depienne C
    Brain; 2018 Nov; 141(11):3160-3178. PubMed ID: 30351409
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.
    Desprairies C; Valence S; Maurey H; Helal SI; Weckhuysen S; Soliman H; Mefford HC; Spentchian M; Héron D; Leguern E; Nava C; Bouilleret V; Moretti R; Mignot C
    Clin Genet; 2020 Mar; 97(3):477-482. PubMed ID: 31883110
    [TBL] [Abstract][Full Text] [Related]  

  • 16. WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
    Oliver KL; Trivisano M; Mandelstam SA; De Dominicis A; Francis DI; Green TE; Muir AM; Chowdhary A; Hertzberg C; Goldhahn K; Metreau J; Prager C; Pinner J; Cardamone M; Myers KA; Leventer RJ; Lesca G; Bahlo M; Hildebrand MS; Mefford HC; Kaindl AM; Specchio N; Scheffer IE
    Epilepsia; 2023 May; 64(5):1351-1367. PubMed ID: 36779245
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Boricua Founder Variant in
    Abdelmoumen I; Jimenez S; Valencia I; Melvin J; Legido A; Diaz-Diaz MM; Griffith C; Massingham LJ; Yelton M; Rodríguez-Hernández J; Schnur RE; Walsh LE; Cristancho AG; Bergqvist CA; McWalter K; Mathieson I; Belbin GM; Kenny EE; Ortiz-Gonzalez XR; Schneider MC
    J Child Neurol; 2021 Feb; 36(2):93-98. PubMed ID: 32928027
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Developmental and epileptic encephalopathy in two siblings with a novel, homozygous missense variant in SCN1B.
    Darras N; Ha TK; Rego S; Martin PM; Barroso E; Slavotinek AM; Cilio MR
    Am J Med Genet A; 2019 Nov; 179(11):2190-2195. PubMed ID: 31465153
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.
    Nahorski MS; Maddirevula S; Ishimura R; Alsahli S; Brady AF; Begemann A; Mizushima T; Guzmán-Vega FJ; Obata M; Ichimura Y; Alsaif HS; Anazi S; Ibrahim N; Abdulwahab F; Hashem M; Monies D; Abouelhoda M; Meyer BF; Alfadhel M; Eyaid W; Zweier M; Steindl K; Rauch A; Arold ST; Woods CG; Komatsu M; Alkuraya FS
    Brain; 2018 Jul; 141(7):1934-1945. PubMed ID: 29868776
    [TBL] [Abstract][Full Text] [Related]  

  • 20. De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
    Cai S; Li J; Wu Y; Jiang Y
    J Hum Genet; 2020 Jul; 65(7):601-608. PubMed ID: 32203252
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.