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 *

108 related articles for article (PubMed ID: 33928188)

  • 1. Biallelic
    Smits DJ; Schot R; Wilke M; van Slegtenhorst M; de Wit MCY; Dremmen MHG; Dobyns WB; Barkovich AJ; Mancini GMS
    Neurol Genet; 2021 Apr; 7(2):e558. PubMed ID: 33928188
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Monoallelic and biallelic mutations in RELN underlie a graded series of neurodevelopmental disorders.
    Di Donato N; Guerrini R; Billington CJ; Barkovich AJ; Dinkel P; Freri E; Heide M; Gershon ES; Gertler TS; Hopkin RJ; Jacob S; Keedy SK; Kooshavar D; Lockhart PJ; Lohmann DR; Mahmoud IG; Parrini E; Schrock E; Severi G; Timms AE; Webster RI; Willis MJH; Zaki MS; Gleeson JG; Leventer RJ; Dobyns WB
    Brain; 2022 Sep; 145(9):3274-3287. PubMed ID: 35769015
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Histological study in the brain of the reelin/Dab1-compound mutant mouse.
    Yamamoto T; Setsu T; Okuyama-Yamamoto A; Terashima T
    Anat Sci Int; 2009 Sep; 84(3):200-9. PubMed ID: 19221860
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel compound heterozygous missense variants in TOE1 gene associated with pontocerebellar hypoplasia type 7.
    Wang C; Ge Y; Li R; He G; Lin Y
    Gene; 2023 Apr; 862():147250. PubMed ID: 36738896
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Rare RELN variants affect Reelin-DAB1 signal transduction in autism spectrum disorder.
    Sánchez-Sánchez SM; Magdalon J; Griesi-Oliveira K; Yamamoto GL; Santacruz-Perez C; Fogo M; Passos-Bueno MR; Sertié AL
    Hum Mutat; 2018 Oct; 39(10):1372-1383. PubMed ID: 29969175
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Exome sequencing reveals a novel CWF19L1 mutation associated with intellectual disability and cerebellar atrophy.
    Evers C; Kaufmann L; Seitz A; Paramasivam N; Granzow M; Karch S; Fischer C; Hinderhofer K; Gdynia G; Elsässer M; Pinkert S; Schlesner M; Bartram CR; Moog U
    Am J Med Genet A; 2016 Jun; 170(6):1502-9. PubMed ID: 27016154
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Disabled-1 acts downstream of Reelin in a signaling pathway that controls laminar organization in the mammalian brain.
    Rice DS; Sheldon M; D'Arcangelo G; Nakajima K; Goldowitz D; Curran T
    Development; 1998 Sep; 125(18):3719-29. PubMed ID: 9716537
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders.
    Mitani T; Punetha J; Akalin I; Pehlivan D; Dawidziuk M; Coban Akdemir Z; Yilmaz S; Aslan E; Hunter JV; Hijazi H; Grochowski CM; Jhangiani SN; Karaca E; Fatih JM; Iwanowski P; Gambin T; Wlasienko P; Goszczanska-Ciuchta A; Bekiesinska-Figatowska M; Hosseini M; Arzhangi S; Najmabadi H; Rosenfeld JA; Du H; Marafi D; Blaser S; Teitelbaum R; Silver R; ; Posey JE; Ropers HH; Gibbs RA; Wiszniewski W; Lupski JR; Chitayat D; Kahrizi K; Gawlinski P
    Am J Hum Genet; 2019 Nov; 105(5):1005-1015. PubMed ID: 31630790
    [TBL] [Abstract][Full Text] [Related]  

  • 9. RELN and VLDLR mutations underlie two distinguishable clinico-radiological phenotypes.
    Valence S; Garel C; Barth M; Toutain A; Paris C; Amsallem D; Barthez MA; Mayer M; Rodriguez D; Burglen L
    Clin Genet; 2016 Dec; 90(6):545-549. PubMed ID: 27000652
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Diagnostic utility of whole exome sequencing in patients showing cerebellar and/or vermis atrophy in childhood.
    Ohba C; Osaka H; Iai M; Yamashita S; Suzuki Y; Aida N; Shimozawa N; Takamura A; Doi H; Tomita-Katsumoto A; Nishiyama K; Tsurusaki Y; Nakashima M; Miyake N; Eto Y; Tanaka F; Matsumoto N; Saitsu H
    Neurogenetics; 2013 Nov; 14(3-4):225-32. PubMed ID: 24091540
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The role of RELN in lissencephaly and neuropsychiatric disease.
    Chang BS; Duzcan F; Kim S; Cinbis M; Aggarwal A; Apse KA; Ozdel O; Atmaca M; Zencir S; Bagci H; Walsh CA
    Am J Med Genet B Neuropsychiatr Genet; 2007 Jan; 144B(1):58-63. PubMed ID: 16958033
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Isolated Unilateral Cerebellar Hemispheric Dysplasia: A Rare Entity.
    Chatur C; Balani A; Vadapalli R; Murthy MG
    Can J Neurol Sci; 2019 Nov; 46(6):760-761. PubMed ID: 31352912
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Heterozygous RELN missense variants associated with genetic generalized epilepsy.
    Wu X; Zhong S; Cai Y; Yang Y; Lian Y; Ding J; Wang X
    Seizure; 2023 Oct; 111():122-129. PubMed ID: 37625192
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Lissencephaly With Cerebellar Hypoplasia Due To a New RELN Mutation.
    Igreja L; Menezes C; Pinto PS; Freixo JP; Chorão R
    Pediatr Neurol; 2023 Dec; 149():137-140. PubMed ID: 37879138
    [TBL] [Abstract][Full Text] [Related]  

  • 15. De Novo Mutated TUBB2B Associated Pachygyria Diagnosed by Medical Exome Sequencing and Long-Range PCR.
    Wang H; Li S; Li S; Jiang N; Guo J; Zhang W; Zhong M; Xie J
    Fetal Pediatr Pathol; 2019 Feb; 38(1):63-71. PubMed ID: 30585108
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.
    Hong SE; Shugart YY; Huang DT; Shahwan SA; Grant PE; Hourihane JO; Martin ND; Walsh CA
    Nat Genet; 2000 Sep; 26(1):93-6. PubMed ID: 10973257
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report.
    Shimojima K; Narita A; Maegaki Y; Saito A; Furukawa T; Yamamoto T
    BMC Res Notes; 2014 Jul; 7():465. PubMed ID: 25053001
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [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]  

  • 19. De novo monoallelic Reelin missense variants cause dominant neuronal migration disorders via a dominant-negative mechanism.
    Riva M; Ferreira S; Hayashi K; Saillour Y; Medvedeva VP; Honda T; Hayashi K; Altersitz C; Albadri S; Rosello M; Dang J; Serafini M; Causeret F; Henry OJ; Roux CJ; Bellesme C; Freri E; Josifova D; Parrini E; Guerrini R; Del Bene F; Nakajima K; Bahi-Buisson N; Pierani A
    J Clin Invest; 2024 Jul; 134(16):. PubMed ID: 38980724
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
    Kooshavar D; Amor DJ; Boggs K; Baker N; Barnett C; de Silva MG; Edwards S; Fahey MC; Marum JE; Snell P; Bozaoglu K; Pope K; Mohammad SS; Riney K; Sachdev R; Scheffer IE; Schenscher S; Silberstein J; Smith N; Tom M; Ware TL; Lockhart PJ; Leventer RJ
    Brain Commun; 2024; 6(2):fcae056. PubMed ID: 38444904
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.