BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 37106788)

  • 1. Structure-Function of the Human WAC Protein in GABAergic Neurons: Towards an Understanding of Autosomal Dominant DeSanto-Shinawi Syndrome.
    Rudolph HC; Stafford AM; Hwang HE; Kim CH; Prokop JW; Vogt D
    Biology (Basel); 2023 Apr; 12(4):. PubMed ID: 37106788
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Complimentary vertebrate
    Lee KH; Stafford AM; Pacheco-Vergara M; Cichewicz K; Canales CP; Seban N; Corea M; Rahbarian D; Bonekamp KE; Gillie GR; Cruz DP; Gill AM; Hwang HE; Uhl KL; Jager TE; Shinawi M; Li X; Obenaus A; Crandall SR; Jeong J; Nord AS; Kim CH; Vogt D
    bioRxiv; 2024 May; ():. PubMed ID: 38826421
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Extending the phenotype of DeSanto-Shinawi syndrome: A case report and literature review.
    Ho S; Luk HM; Lo IFM
    Am J Med Genet A; 2022 Mar; 188(3):984-990. PubMed ID: 34797027
    [TBL] [Abstract][Full Text] [Related]  

  • 4. DeSanto-Shinawi Syndrome: First Case in South America.
    Vanegas S; Ramirez-Montaño D; Candelo E; Shinawi M; Pachajoa H
    Mol Syndromol; 2018 May; 9(3):154-158. PubMed ID: 29928181
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndrome.
    Quental R; Gonçalves D; Rodrigues E; Serrano Gonçalves E; Oliveira J; Parente Freixo J; Leão M
    Am J Med Genet A; 2022 Apr; 188(4):1311-1316. PubMed ID: 34997803
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The Phenotypic Spectrum of Desanto-Shinawi Syndrome: A Comparative Report of the First Reported Case in Turkey.
    Mail C; Yalcintepe S; Eker D; Gurkan H
    Genet Test Mol Biomarkers; 2024 May; 28(5):213-217. PubMed ID: 38613467
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy.
    Pasquali D; Torella A; Grandone A; Luongo C; Morleo M; Peduto C; di Fraia R; Selvaggio LD; Allosso F; Accardo G; Zanobio MT; Maitz S; Mariani M; Selicorni A; Banfi S; Nigro V;
    Am J Med Genet A; 2023 Mar; 191(3):823-830. PubMed ID: 36420948
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Phenotypic comparison of patients affected with DeSanto-Shinawi syndrome: Point mutations in WAC gene versus a 10p12.1 microdeletion including WAC.
    Toledo-Gotor C; García-Muro C; García-Oguiza A; Poch-Olivé ML; Ruiz-Del Prado MY; Domínguez-Garrido E
    Mol Genet Genomic Med; 2022 May; 10(5):e1910. PubMed ID: 35266333
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel variant of DeSanto-Shinawi Syndrome with joint manifestations.
    Branco J; Amorim M; Conde M
    Eur J Med Genet; 2022 Jul; 65(7):104534. PubMed ID: 35636632
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Self-limited focal epilepsy and childhood apraxia of speech with WAC pathogenic variants.
    Alawadhi A; Morgan AT; Mucha BE; Scheffer IE; Myers KA
    Eur J Paediatr Neurol; 2021 Jan; 30():25-28. PubMed ID: 33387902
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Three patients with DeSanto-Shinawi syndrome: Further phenotypic delineation.
    Uehara T; Ishige T; Hattori S; Yoshihashi H; Funato M; Yamaguchi Y; Takenouchi T; Kosaki K
    Am J Med Genet A; 2018 Jun; 176(6):1335-1340. PubMed ID: 29663678
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Phenotypic and Brain Imaging Findings Associated With a 10p Proximal Deletion Including the WAC Gene: Case Report and Literature Review.
    Bolat H; Derin H; Ünsel-Bolat G
    Cogn Behav Neurol; 2022 Sep; 35(3):221-226. PubMed ID: 35766809
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Ring finger 20/ring finger 40/WW domain-containing adaptor with coiled-coil complex interacts with p53 to regulate gene transcription in DNA damage response.
    Meng D; Guo K; Zhang D; Zhao C; Sun C; Zhang F
    Oncol Lett; 2021 Jun; 21(6):436. PubMed ID: 33868474
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and molecular characterization of five new individuals with WAC-related intellectual disability: Evidence of pathogenicity for a novel splicing variant.
    Morales JA; Valenzuela I; Cuscó I; Cogné B; Isidor B; Matalon DR; Gomez-Ospina N
    Am J Med Genet A; 2022 May; 188(5):1396-1406. PubMed ID: 35018708
    [TBL] [Abstract][Full Text] [Related]  

  • 15. WAC, a novel WW domain-containing adapter with a coiled-coil region, is colocalized with splicing factor SC35.
    Xu GM; Arnaout MA
    Genomics; 2002 Jan; 79(1):87-94. PubMed ID: 11827461
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A Case of DeSanto-Shinawi Syndrome in Bahrain with a Novel Mutation.
    Alsahlawi Z; Jailani M; Alaradi H; AlAbbad A
    Case Rep Pediatr; 2020; 2020():8820966. PubMed ID: 33123400
    [TBL] [Abstract][Full Text] [Related]  

  • 17. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
    DeSanto C; D'Aco K; Araujo GC; Shannon N; ; Vernon H; Rahrig A; Monaghan KG; Niu Z; Vitazka P; Dodd J; Tang S; Manwaring L; Martir-Negron A; Schnur RE; Juusola J; Schroeder A; Pan V; Helbig KL; Friedman B; Shinawi M
    J Med Genet; 2015 Nov; 52(11):754-61. PubMed ID: 26264232
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).
    Leonardi E; Bellini M; Aspromonte MC; Polli R; Mercante A; Ciaccio C; Granocchio E; Bettella E; Donati I; Cainelli E; Boni S; Sartori S; Pantaleoni C; Boniver C; Murgia A
    Genes (Basel); 2020 Mar; 11(3):. PubMed ID: 32214004
    [TBL] [Abstract][Full Text] [Related]  

  • 19. WAC Promotes Polo-like Kinase 1 Activation for Timely Mitotic Entry.
    Qi F; Chen Q; Chen H; Yan H; Chen B; Xiang X; Liang C; Yi Q; Zhang M; Cheng H; Zhang Z; Huang J; Wang F
    Cell Rep; 2018 Jul; 24(3):546-556. PubMed ID: 30021153
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [WAC gene pathogenic variation cause DeSanto-Shinawi syndrome with electrical status epilepticus during sleep].
    Zhang YJ; Yao PL; Zhou YF; Qiu T; Wang J; Wang XH; Zhou SZ; Wu BB; Wang Y
    Zhonghua Er Ke Za Zhi; 2019 Oct; 57(10):802-804. PubMed ID: 31594069
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.