BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

176 related articles for article (PubMed ID: 17643777)

  • 1. Specific cognitive deficits in young children with cystinosis: evidence for an early effect of the cystinosin gene on neural function.
    Trauner DA; Spilkin AM; Williams J; Babchuck L
    J Pediatr; 2007 Aug; 151(2):192-6. PubMed ID: 17643777
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Neurobehavioral consequences of a genetic metabolic disorder: visual processing deficits in infantile nephropathic cystinosis.
    Ballantyne AO; Trauner DA
    Neuropsychiatry Neuropsychol Behav Neurol; 2000 Oct; 13(4):254-63. PubMed ID: 11186161
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Neurocognitive functions and behavioral profiles in children with nephropathic cystinosis.
    Aly R; Makar S; El Bakri A; Soliman NA
    Saudi J Kidney Dis Transpl; 2014 Nov; 25(6):1224-31. PubMed ID: 25394439
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Non-verbal deficits in young children with a genetic metabolic disorder: WPPSI-III performance in cystinosis.
    Spilkin AM; Ballantyne AO; Babchuck LR; Trauner DA
    Am J Med Genet B Neuropsychiatr Genet; 2007 Jun; 144B(4):444-7. PubMed ID: 17471495
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Molecular analysis of the CTNS gene in Jordanian families with nephropathic cystinosis.
    Jaradat S; Al-Rababah B; Hazza I; Akl K; Saca E; Al-Younis D
    Nefrologia; 2015; 35(6):547-53. PubMed ID: 26565940
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Cognition in nephropathic cystinosis: pattern of expression in heterozygous carriers.
    Niemiec S; Ballantyne A; Trauner DA
    Am J Med Genet A; 2012 Aug; 158A(8):1902-8. PubMed ID: 22786804
    [TBL] [Abstract][Full Text] [Related]  

  • 7. CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report.
    Papizh S; Serzhanova V; Filatova A; Skoblov M; Tabakov V; van den Heuvel L; Levtchenko E; Prikhodina L
    BMC Nephrol; 2019 Oct; 20(1):400. PubMed ID: 31672123
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Visuomotor performance in children with infantile nephropathic cystinosis.
    Scarvie KM; Ballantyne AO; Trauner DA
    Percept Mot Skills; 1996 Feb; 82(1):67-75. PubMed ID: 8668504
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Hierarchical processing of visual stimuli in nephropathic cystinosis.
    Sathappan A; Trauner D
    J Inherit Metab Dis; 2019 May; 42(3):545-552. PubMed ID: 30671973
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Cystinosin deficiency causes podocyte damage and loss associated with increased cell motility.
    Ivanova EA; Arcolino FO; Elmonem MA; Rastaldi MP; Giardino L; Cornelissen EM; van den Heuvel LP; Levtchenko EN
    Kidney Int; 2016 May; 89(5):1037-1048. PubMed ID: 27083281
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Nephropathic Cystinosis Mimicking Bartter Syndrome: a Novel Mutation.
    Bastug F; Nalcacioglu H; Ozaltin F; Korkmaz E; Yel S
    Iran J Kidney Dis; 2018 Jan; 12(1):61-63. PubMed ID: 29421779
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Event-related potential (ERP) evidence for visual processing differences in children and adults with cystinosis (CTNS gene mutations).
    Horsthuis DJ; Molholm S; Foxe JJ; Francisco AA
    Orphanet J Rare Dis; 2023 Dec; 18(1):389. PubMed ID: 38087330
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Cystinosis in Eastern Turkey.
    Doğan M; Bulan K; Kaba S; Cesur Y; Ceylaner S; Ustyol L
    J Pediatr Endocrinol Metab; 2016 Aug; 29(8):965-9. PubMed ID: 27269891
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Cortical atrophy and cognitive performance in infantile nephropathic cystinosis.
    Nichols SL; Press GA; Schneider JA; Trauner DA
    Pediatr Neurol; 1990; 6(6):379-81. PubMed ID: 2073300
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair.
    David D; Princiero Berlingerio S; Elmonem MA; Oliveira Arcolino F; Soliman N; van den Heuvel B; Gijsbers R; Levtchenko E
    Nephron; 2019; 141(2):133-146. PubMed ID: 30554218
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Neurological impairment in nephropathic cystinosis: motor coordination deficits.
    Trauner DA; Williams J; Ballantyne AO; Spilkin AM; Crowhurst J; Hesselink J
    Pediatr Nephrol; 2010 Oct; 25(10):2061-6. PubMed ID: 20652328
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular Mechanisms and Treatment Options of Nephropathic Cystinosis.
    Jamalpoor A; Othman A; Levtchenko EN; Masereeuw R; Janssen MJ
    Trends Mol Med; 2021 Jul; 27(7):673-686. PubMed ID: 33975805
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Effect of age at treatment on cognitive performance in patients with cystinosis.
    Viltz L; Trauner DA
    J Pediatr; 2013 Aug; 163(2):489-92. PubMed ID: 23462307
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Academic achievement in individuals with infantile nephropathic cystinosis.
    Ballantyne AO; Scarvie KM; Trauner DA
    Am J Med Genet; 1997 Apr; 74(2):157-61. PubMed ID: 9129715
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Nephropathic cystinosis presenting with uveitis: Report of a "Can't See, Can't Pee" situation.
    Matthai SM; Jacob S; Bindra MS; David VG; Varughese S
    Indian J Pathol Microbiol; 2019; 62(3):457-460. PubMed ID: 31361240
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.