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 *

145 related articles for article (PubMed ID: 8301648)

  • 1. Diagnostic criteria and genetics of the PEHO syndrome.
    Somer M
    J Med Genet; 1993 Nov; 30(11):932-6. PubMed ID: 8301648
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome).
    Salonen R; Somer M; Haltia M; Lorentz M; Norio R
    Clin Genet; 1991 Apr; 39(4):287-93. PubMed ID: 2070547
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Epilepsy and the electroencephalogram in progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (the PEHO syndrome).
    Somer M; Sainio K
    Epilepsia; 1993; 34(4):727-31. PubMed ID: 8330584
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in two Japanese siblings.
    Fujimoto S; Yokochi K; Nakano M; Wada Y
    Neuropediatrics; 1995 Oct; 26(5):270-2. PubMed ID: 8552220
    [TBL] [Abstract][Full Text] [Related]  

  • 5. PEHO and PEHO-like syndromes: report of five Australian cases.
    Field MJ; Grattan-Smith P; Piper SM; Thompson EM; Haan EA; Edwards M; James S; Wilkinson I; Adès LC
    Am J Med Genet A; 2003 Sep; 122A(1):6-12. PubMed ID: 12949965
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) in a Turkish child.
    Tekgül H; Tütüncüoğlu S
    Turk J Pediatr; 2000; 42(3):246-9. PubMed ID: 11105628
    [TBL] [Abstract][Full Text] [Related]  

  • 7. CCDC88A mutations cause PEHO-like syndrome in humans and mouse.
    Nahorski MS; Asai M; Wakeling E; Parker A; Asai N; Canham N; Holder SE; Chen YC; Dyer J; Brady AF; Takahashi M; Woods CG
    Brain; 2016 Apr; 139(Pt 4):1036-44. PubMed ID: 26917597
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [PEHO syndrome (progressive encephalopathy, edema, hypsarrhythmia. optic atrophy)].
    Hollódy K; Kollár K
    Orv Hetil; 1997 Feb; 138(7):425-8. PubMed ID: 9091844
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining?
    D'Arrigo S; Grazia BM; Faravelli F; Riva D; Pantaleoni C
    J Child Neurol; 2005 May; 20(5):454-6. PubMed ID: 15968934
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [A case of PEHO (progressive encephalopathy with edema, hypsarrhythmia and optic atrophy) syndrome: changes in clinical and neuroradiological findings].
    Tanaka M; Tanaka Y; Hamano S; Nara T; Imai M
    No To Hattatsu; 1997 Nov; 29(6):488-93. PubMed ID: 9394605
    [TBL] [Abstract][Full Text] [Related]  

  • 11. ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
    Anttonen AK; Laari A; Kousi M; Yang YJ; Jääskeläinen T; Somer M; Siintola E; Jakkula E; Muona M; Tegelberg S; Lönnqvist T; Pihko H; Valanne L; Paetau A; Lun MP; Hästbacka J; Kopra O; Joensuu T; Katsanis N; Lehtinen MK; Palvimo JJ; Lehesjoki AE
    Brain; 2017 May; 140(5):1267-1279. PubMed ID: 28335020
    [TBL] [Abstract][Full Text] [Related]  

  • 12. PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.
    Õunap K; Muru K; Õiglane-Shlik E; Ilves P; Pajusalu S; Kuus I; Wojcik MH; Reimand T
    Eur J Med Genet; 2020 Feb; 63(2):103660. PubMed ID: 31048081
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Progressive encephalopathy with oedema, hypsarrhythmia and optic atrophy (PEHO syndrome). A case report].
    Nieto-Barrera M; Nieto-Jiménez M; Díaz-Fernandez F; Campaña-Marchal C; Candau Fernández-Mensaque R
    Rev Neurol; 2003 Jun 1-15; 36(11):1044-6. PubMed ID: 12808501
    [TBL] [Abstract][Full Text] [Related]  

  • 14. De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
    Langlois S; Tarailo-Graovac M; Sayson B; Drögemöller B; Swenerton A; Ross CJ; Wasserman WW; van Karnebeek CD
    Eur J Hum Genet; 2016 Jun; 24(6):949-53. PubMed ID: 26486474
    [TBL] [Abstract][Full Text] [Related]  

  • 15. PEHO syndrome (progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy): neuroradiologic findings.
    Somer M; Salonen O; Pihko H; Norio R
    AJNR Am J Neuroradiol; 1993; 14(4):861-7. PubMed ID: 8352158
    [TBL] [Abstract][Full Text] [Related]  

  • 16. PEHO syndrome: the endpoint of different genetic epilepsies.
    Chitre M; Nahorski MS; Stouffer K; Dunning-Davies B; Houston H; Wakeling EL; Brady AF; Zuberi SM; Suri M; Parker APJ; Woods CG
    J Med Genet; 2018 Dec; 55(12):803-813. PubMed ID: 30287594
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Dutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndrome.
    Vanhatalo S; Somer M; Barth PG
    Neuropediatrics; 2002 Apr; 33(2):100-4. PubMed ID: 12075493
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome).
    Shevell MI; Colangelo P; Treacy E; Polomeno RC; Rosenblatt B
    Pediatr Neurol; 1996 Nov; 15(4):337-9. PubMed ID: 8972535
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome.
    Nevanlinna V; Konovalova S; Ceulemans B; Muona M; Laari A; Hilander T; Gorski K; Valanne L; Anttonen AK; Tyynismaa H; Courage C; Lehesjoki AE
    Eur J Med Genet; 2020 Mar; 63(3):103766. PubMed ID: 31536827
    [TBL] [Abstract][Full Text] [Related]  

  • 20. PEHO or PEHO-like syndrome?
    Chitty LS; Robb S; Berry C; Silver D; Baraitser M
    Clin Dysmorphol; 1996 Apr; 5(2):143-52. PubMed ID: 8723564
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.