BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

286 related articles for article (PubMed ID: 18711368)

  • 1. tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.
    Budde BS; Namavar Y; Barth PG; Poll-The BT; Nürnberg G; Becker C; van Ruissen F; Weterman MA; Fluiter K; te Beek ET; Aronica E; van der Knaap MS; Höhne W; Toliat MR; Crow YJ; Steinling M; Voit T; Roelenso F; Brussel W; Brockmann K; Kyllerman M; Boltshauser E; Hammersen G; Willemsen M; Basel-Vanagaite L; Krägeloh-Mann I; de Vries LS; Sztriha L; Muntoni F; Ferrie CD; Battini R; Hennekam RC; Grillo E; Beemer FA; Stoets LM; Wollnik B; Nürnberg P; Baas F
    Nat Genet; 2008 Sep; 40(9):1113-8. PubMed ID: 18711368
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.
    Bierhals T; Korenke GC; Uyanik G; Kutsche K
    Eur J Med Genet; 2013 Jun; 56(6):325-30. PubMed ID: 23562994
    [TBL] [Abstract][Full Text] [Related]  

  • 3. TSEN54 mutations cause pontocerebellar hypoplasia type 5.
    Namavar Y; Chitayat D; Barth PG; van Ruissen F; de Wissel MB; Poll-The BT; Silver R; Baas F
    Eur J Hum Genet; 2011 Jun; 19(6):724-6. PubMed ID: 21368912
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Impairment of the tRNA-splicing endonuclease subunit 54 (tsen54) gene causes neurological abnormalities and larval death in zebrafish models of pontocerebellar hypoplasia.
    Kasher PR; Namavar Y; van Tijn P; Fluiter K; Sizarov A; Kamermans M; Grierson AJ; Zivkovic D; Baas F
    Hum Mol Genet; 2011 Apr; 20(8):1574-84. PubMed ID: 21273289
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel mutations in TSEN54 in pontocerebellar hypoplasia type 2.
    Battini R; D'Arrigo S; Cassandrini D; Guzzetta A; Fiorillo C; Pantaleoni C; Romano A; Alfei E; Cioni G; Santorelli FM
    J Child Neurol; 2014 Apr; 29(4):520-5. PubMed ID: 23307886
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.
    Namavar Y; Barth PG; Poll-The BT; Baas F
    Orphanet J Rare Dis; 2011 Jul; 6():50. PubMed ID: 21749694
    [TBL] [Abstract][Full Text] [Related]  

  • 7. MR findings in pontocerebellar hypoplasia.
    Uhl M; Pawlik H; Laubenberger J; Darge K; Baborie A; Korinthenberg R; Langer M
    Pediatr Radiol; 1998 Jul; 28(7):547-51. PubMed ID: 9662582
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies.
    Cassandrini D; Biancheri R; Tessa A; Di Rocco M; Di Capua M; Bruno C; Denora PS; Sartori S; Rossi A; Nozza P; Emma F; Mezzano P; Politi MR; Laverda AM; Zara F; Pavone L; Simonati A; Leuzzi V; Santorelli FM; Bertini E
    Neurology; 2010 Oct; 75(16):1459-64. PubMed ID: 20956791
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular and neuroimaging findings in pontocerebellar hypoplasia type 2 (PCH2): is prenatal diagnosis possible?
    Graham JM; Spencer AH; Grinberg I; Niesen CE; Platt LD; Maya M; Namavar Y; Baas F; Dobyns WB
    Am J Med Genet A; 2010 Sep; 152A(9):2268-76. PubMed ID: 20803644
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.
    Namavar Y; Barth PG; Kasher PR; van Ruissen F; Brockmann K; Bernert G; Writzl K; Ventura K; Cheng EY; Ferriero DM; Basel-Vanagaite L; Eggens VR; Krägeloh-Mann I; De Meirleir L; King M; Graham JM; von Moers A; Knoers N; Sztriha L; Korinthenberg R; ; Dobyns WB; Baas F; Poll-The BT
    Brain; 2011 Jan; 134(Pt 1):143-56. PubMed ID: 20952379
    [TBL] [Abstract][Full Text] [Related]  

  • 11. The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees.
    Barth PG; Blennow G; Lenard HG; Begeer JH; van der Kley JM; Hanefeld F; Peters AC; Valk J
    Neurology; 1995 Feb; 45(2):311-7. PubMed ID: 7854532
    [TBL] [Abstract][Full Text] [Related]  

  • 12. TSEN54 gene-related pontocerebellar hypoplasia type 2 presenting with exaggerated startle response: report of two cases in a family.
    Maraş-Genç H; Uyur-Yalçın E; Rosti RÖ; Gleeson JG; Kara B
    Turk J Pediatr; 2015; 57(3):286-9. PubMed ID: 26701950
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pontocerebellar hypoplasia associated with respiratory-chain defects.
    de Koning TJ; de Vries LS; Groenendaal F; Ruitenbeek W; Jansen GH; Poll-The BT; Barth PG
    Neuropediatrics; 1999 Apr; 30(2):93-5. PubMed ID: 10401692
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pontocerebellar hypoplasia: review of classification and genetics, and exclusion of several genes known to be important for cerebellar development.
    Maricich SM; Aqeeb KA; Moayedi Y; Mathes EL; Patel MS; Chitayat D; Lyon G; Leroy JG; Zoghbi HY
    J Child Neurol; 2011 Mar; 26(3):288-94. PubMed ID: 21383226
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel TSEN54 mutation causing pontocerebellar hypoplasia type 4.
    Rudaks LI; Moore L; Shand KL; Wilkinson C; Barnett CP
    Pediatr Neurol; 2011 Sep; 45(3):185-8. PubMed ID: 21824568
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
    Ivanova EL; Mau-Them FT; Riazuddin S; Kahrizi K; Laugel V; Schaefer E; de Saint Martin A; Runge K; Iqbal Z; Spitz MA; Laura M; Drouot N; Gérard B; Deleuze JF; de Brouwer APM; Razzaq A; Dollfus H; Assir MZ; Nitchké P; Hinckelmann MV; Ropers H; Riazuddin S; Najmabadi H; van Bokhoven H; Chelly J
    Am J Hum Genet; 2017 Sep; 101(3):428-440. PubMed ID: 28823707
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.
    Kastrissianakis K; Anand G; Quaghebeur G; Price S; Prabhakar P; Marinova J; Brown G; McShane T
    Arch Dis Child; 2013 Dec; 98(12):1004-7. PubMed ID: 24047924
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pontocerebellar hypoplasia type 3 with tetralogy of Fallot.
    Jinnou H; Okanishi T; Enoki H; Ohki S
    Brain Dev; 2012 May; 34(5):392-5. PubMed ID: 21880448
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset.
    Barth PG
    Brain Dev; 1993; 15(6):411-22. PubMed ID: 8147499
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.
    Rajab A; Mochida GH; Hill A; Ganesh V; Bodell A; Riaz A; Grant PE; Shugart YY; Walsh CA
    Neurology; 2003 May; 60(10):1664-7. PubMed ID: 12771259
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.