BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

119 related articles for article (PubMed ID: 23623288)

  • 1. A de novo CASK mutation in pontocerebellar hypoplasia type 3 with early myoclonic epilepsy and tetralogy of Fallot.
    Nakamura K; Nishiyama K; Kodera H; Nakashima M; Tsurusaki Y; Miyake N; Matsumoto N; Saitsu H; Jinnou H; Ohki S; Yokochi K; Okanishi T; Enoki H
    Brain Dev; 2014 Mar; 36(3):272-3. PubMed ID: 23623288
    [No Abstract]   [Full Text] [Related]  

  • 2. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
    Burglen L; Chantot-Bastaraud S; Garel C; Milh M; Touraine R; Zanni G; Petit F; Afenjar A; Goizet C; Barresi S; Coussement A; Ioos C; Lazaro L; Joriot S; Desguerre I; Lacombe D; des Portes V; Bertini E; Siffroi JP; de Villemeur TB; Rodriguez D
    Orphanet J Rare Dis; 2012 Mar; 7():18. PubMed ID: 22452838
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. A novel INPP4A mutation with pontocerebellar hypoplasia, myoclonic epilepsy, microcephaly, and severe developmental delay.
    Özkan Kart P; Citli S; Yildiz N; Cansu A
    Brain Dev; 2023 May; 45(5):300-305. PubMed ID: 36759255
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Late-onset epileptic spasms in a female patient with a CASK mutation.
    Nakajiri T; Kobayashi K; Okamoto N; Oka M; Miya F; Kosaki K; Yoshinaga H
    Brain Dev; 2015 Oct; 37(9):919-23. PubMed ID: 25765806
    [TBL] [Abstract][Full Text] [Related]  

  • 6. CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.
    Saitsu H; Kato M; Osaka H; Moriyama N; Horita H; Nishiyama K; Yoneda Y; Kondo Y; Tsurusaki Y; Doi H; Miyake N; Hayasaka K; Matsumoto N
    Epilepsia; 2012 Aug; 53(8):1441-9. PubMed ID: 22709267
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Familial pontocerebellar hypoplasia type I with anterior horn cell disease.
    Görgen-Pauly U; Sperner J; Reiss I; Gehl HB; Reusche E
    Eur J Paediatr Neurol; 1999; 3(1):33-8. PubMed ID: 10727190
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Survival of a male patient harboring CASK Arg27Ter mutation to adolescence.
    Mukherjee K; Patel PA; Rajan DS; LaConte LEW; Srivastava S
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1426. PubMed ID: 32696595
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A Novel Frameshift
    Ahn JH; Oh SH; Park JK; Kim KH; Lee JE; Chung WY; Lee KS; Seo GH; Lee BL
    Ann Clin Lab Sci; 2022 May; 52(3):488-493. PubMed ID: 35777792
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [New mutation in the CASK gene in a child with microcephaly syndrome and pontocerebellar hypoplasia].
    González-Roca I; Alonso-Rivero P; Sánchez-Soblechero A; Vázquez-López M
    Rev Neurol; 2020 Aug; 71(4):161-162. PubMed ID: 32700313
    [TBL] [Abstract][Full Text] [Related]  

  • 11. TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.
    Simonati A; Cassandrini D; Bazan D; Santorelli FM
    Acta Neuropathol; 2011 May; 121(5):671-3. PubMed ID: 21468723
    [No Abstract]   [Full Text] [Related]  

  • 12. Pontocerebellar hypoplasia in two siblings with dysmorphic features.
    Dilber E; Aynaci FM; Ahmetoglu A
    J Child Neurol; 2002 Jan; 17(1):64-6. PubMed ID: 11913577
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Recurrent episodes of rhabdomyolysis in pontocerebellar hypoplasia type 2.
    Zafeiriou DI; Ververi A; Tsitlakidou A; Anastasiou A; Vargiami E
    Neuromuscul Disord; 2013 Feb; 23(2):116-9. PubMed ID: 23177318
    [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. Pontocerebellar hypoplasia type 3 with severe vitamin A deficiency.
    Jacob FD; Hasal S; Goez HR
    Pediatr Neurol; 2011 Feb; 44(2):147-9. PubMed ID: 21215917
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. The eldest case of MICPCH with CASK mutation exhibiting gross motor regression.
    Nishio Y; Kidokoro H; Takeo T; Narita H; Sawamura F; Narita K; Kawano Y; Nakata T; Muramatsu H; Hara S; Kaname T; Natsume J
    Brain Dev; 2021 Mar; 43(3):459-463. PubMed ID: 33272775
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pontocerebellar hypoplasia type 2 and Reye-like syndrome.
    Sans-Fitó A; Campistol-Plana J; Mas-Salguero MJ; Póo-Argüelles P; Fernández-Alvarez E
    J Child Neurol; 2002 Feb; 17(2):132-4. PubMed ID: 11952074
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Affective disorder associated with pontocerebellar hypoplasia.
    Loy KY; Usman M; Lee HE; Brock P
    Australas Psychiatry; 2012 Oct; 20(5):444. PubMed ID: 23086315
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 6.