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 *

109 related articles for article (PubMed ID: 2070547)

  • 21. 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]  

  • 22. A patient with hydranencephaly and PEHO-like dysmorphic features.
    Goizet C; Espil-Taris C; Husson M; Chateil JF; Pedespan JM; Lacombe D
    Ann Genet; 2003; 46(1):25-8. PubMed ID: 12818526
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies.
    Gawlinski P; Posmyk R; Gambin T; Sielicka D; Chorazy M; Nowakowska B; Jhangiani SN; Muzny DM; Bekiesinska-Figatowska M; Bal J; Boerwinkle E; Gibbs RA; Lupski JR; Wiszniewski W
    Pediatr Neurol; 2016 Jul; 60():83-7. PubMed ID: 27343026
    [TBL] [Abstract][Full Text] [Related]  

  • 25. A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family.
    Abdulkareem AA; Abulnaja KO; Jan MM; Karim S; Rasool M; Ansari SA; Chaudhary AG; Al-Qahtani MH; Naseer MI
    Neurol Sci; 2019 Feb; 40(2):299-303. PubMed ID: 30392057
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Clinical and genetic features of PEHO and PEHO-Like syndromes: A scoping review.
    Sabaie H; Ahangar NK; Ghafouri-Fard S; Taheri M; Rezazadeh M
    Biomed Pharmacother; 2020 Nov; 131():110793. PubMed ID: 33152950
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Infantile cerebello-optic atrophy. Neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome).
    Haltia M; Somer M
    Acta Neuropathol; 1993; 85(3):241-7. PubMed ID: 8460530
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes.
    Hady-Cohen R; Ben-Pazi H; Adir V; Yosovich K; Blumkin L; Lerman-Sagie T; Lev D
    Eur J Paediatr Neurol; 2018 Nov; 22(6):1133-1138. PubMed ID: 30100179
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Pontocerebellar hypoplasia type 6: A British case with PEHO-like features.
    Rankin J; Brown R; Dobyns WB; Harington J; Patel J; Quinn M; Brown G
    Am J Med Genet A; 2010 Aug; 152A(8):2079-84. PubMed ID: 20635367
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy (PEHO) syndrome in a Swiss child.
    Klein A; Schmitt B; Boltshauser E
    Eur J Paediatr Neurol; 2004; 8(6):317-21. PubMed ID: 15542387
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Markedly elevated nitrate/nitrite levels in the cerebrospinal fluid of children with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome).
    Vanhatalo S; Riikonen R
    Epilepsia; 2000 Jun; 41(6):705-8. PubMed ID: 10840402
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Cranial magnetic resonance imaging mistakenly suggests prenatal ischaemia in PEHO-like syndrome.
    Longman C; Tolmie J; McWilliam R; MacLennan A
    Clin Dysmorphol; 2003 Apr; 12(2):133-6. PubMed ID: 12868478
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. [Killian-Teschler-Nicola syndrome (Pallister-Killian syndrome, mosaic tetrasomy 12p)].
    Pankau R; Diebold U; Jenderny J; Kautza M; Dörner K
    Monatsschr Kinderheilkd; 1992 Jun; 140(6):340-2. PubMed ID: 1640944
    [No Abstract]   [Full Text] [Related]  

  • 35. Precocious puberty in two girls with PEHO syndrome: a clinical feature not previously described.
    Alfadhel M; Yong SL; Lillquist Y; Langlois S
    J Child Neurol; 2011 Jul; 26(7):851-7. PubMed ID: 21596701
    [TBL] [Abstract][Full Text] [Related]  

  • 36. PEHO syndrome: KIF1A mutation and decreased activity of mitochondrial respiratory chain complex.
    Samanta D; Gokden M
    J Clin Neurosci; 2019 Mar; 61():298-301. PubMed ID: 30385166
    [TBL] [Abstract][Full Text] [Related]  

  • 37. An oculocerebrofacial syndrome.
    Kaufman RL; Rimoin DL; Prensky AL; Sly WS
    Birth Defects Orig Artic Ser; 1971 Feb; 7(1):135-8. PubMed ID: 5006210
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Practical clues for diagnosing WWOX encephalopathy.
    Tarta-Arsene O; Barca D; Craiu D; Iliescu C
    Epileptic Disord; 2017 Sep; 19(3):357-361. PubMed ID: 28721938
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Studies of mutations of assembly factor Hit1 in budding yeast suggest translation defects as the molecular basis for PEHO syndrome.
    Dreggors-Walker RE; Cohen LN; Khoshnevis S; Marchand V; Motorin Y; Ghalei H
    J Biol Chem; 2022 Sep; 298(9):102261. PubMed ID: 35843310
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Congenital microcephaly, infantile spasms, psychomotor retardation, and nephrotic syndrome in two sibs.
    Roos RA; Maaswinkel-Mooy PD; vd Loo EM; Kanhai HH
    Eur J Pediatr; 1987 Sep; 146(5):532-6. PubMed ID: 3678281
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 6.