BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 1576608)

  • 1. Central nervous system and renal investigations in patients with Lowe syndrome.
    Pueschel SM; Brem AS; Nittoli P
    Childs Nerv Syst; 1992 Feb; 8(1):45-8. PubMed ID: 1576608
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Complete oculocerebrorenal phenotype of Lowe syndrome in a female patient with half reduction of inositol polyphosphate 5-phosphatase.
    Yamamoto K; Hasegawa Y; Ohata Y; Satomura K; Mizoguchi Y; Shimotsuji T; Yamamoto T
    CEN Case Rep; 2020 May; 9(2):95-100. PubMed ID: 31707643
    [TBL] [Abstract][Full Text] [Related]  

  • 3. MRI and proton spectroscopy in Lowe syndrome.
    Schneider JF; Boltshauser E; Neuhaus TJ; Rauscher C; Martin E
    Neuropediatrics; 2001 Feb; 32(1):45-8. PubMed ID: 11315202
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The oculocerebrorenal syndrome of Lowe.
    Lavin CW; McKeown CA
    Int Ophthalmol Clin; 1993; 33(2):179-91. PubMed ID: 8325732
    [No Abstract]   [Full Text] [Related]  

  • 5. Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint.
    Mueller OT; Hartsfield JK; Gallardo LA; Essig YP; Miller KL; Papenhausen PR; Tedesco TA
    Am J Hum Genet; 1991 Oct; 49(4):804-10. PubMed ID: 1897526
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Dent-2 disease: a mild variant of Lowe syndrome.
    Bökenkamp A; Böckenhauer D; Cheong HI; Hoppe B; Tasic V; Unwin R; Ludwig M
    J Pediatr; 2009 Jul; 155(1):94-9. PubMed ID: 19559295
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Hypotonia and delayed motor development as an early presentation of Lowe syndrome: case report and literature review.
    David S; De Waele K; De Wilde B; Faes F; Vanakker O; Walraedt S; Prytuła A
    Acta Clin Belg; 2019 Dec; 74(6):460-464. PubMed ID: 30501482
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [Clinical findings in a patient with Lowe syndrome and a splice site mutation in the OCRL1 gene].
    Keilhauer CN; Gal A; Sold JE; Zimmermann J; Netzer KO; Schramm L
    Klin Monbl Augenheilkd; 2007 Mar; 224(3):207-9. PubMed ID: 17385124
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
    Recker F; Zaniew M; Böckenhauer D; Miglietti N; Bökenkamp A; Moczulska A; Rogowska-Kalisz A; Laube G; Said-Conti V; Kasap-Demir B; Niemirska A; Litwin M; Siteń G; Chrzanowska KH; Krajewska-Walasek M; Sethi SK; Tasic V; Anglani F; Addis M; Wasilewska A; Szczepańska M; Pawlaczyk K; Sikora P; Ludwig M
    Pediatr Nephrol; 2015 Jun; 30(6):931-43. PubMed ID: 25480730
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [The Lyon effect of the lens: findings in the carriers of X chromosome-linked cataract and in Lowe syndrome].
    Koniszewski G; Rott HD
    Klin Monbl Augenheilkd; 1985 Dec; 187(6):525-8. PubMed ID: 4094364
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel mutation of OCRL1 in Lowe syndrome.
    Liu T; Yue Z; Wang H; Tong H; Sun L
    Indian J Pediatr; 2015 Jan; 82(1):89-92. PubMed ID: 25297642
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function.
    Charnas LR; Bernardini I; Rader D; Hoeg JM; Gahl WA
    N Engl J Med; 1991 May; 324(19):1318-25. PubMed ID: 2017228
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Lowe syndrome: report of one case].
    Wang CL; Liu CY; Yuh YS; Chu ML
    Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi; 1993; 34(1):45-53. PubMed ID: 8333287
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Opacities of the lens indicating carrier status in the oculo-cerebro-renal (Lowe) syndrome.
    Delleman JW; Bleeker-Wagemakers EM; van Veelen AW
    J Pediatr Ophthalmol; 1977; 14(4):205-12. PubMed ID: 894443
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Orthopedic manifestations of the Lowe (oculocerebrorenal) syndrome.
    Holtgrewe JL; Kalen V
    J Pediatr Orthop; 1986; 6(2):165-71. PubMed ID: 3958170
    [TBL] [Abstract][Full Text] [Related]  

  • 16. MRI findings and peripheral neuropathy in Lowe's syndrome.
    Charnas L; Bernar J; Pezeshkpour GH; Dalakas M; Harper GS; Gahl WA
    Neuropediatrics; 1988 Feb; 19(1):7-9. PubMed ID: 2834662
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [THE OCULO-CEREBRO-RENAL SYNDROME WITH CORNEAL OPACITIES. A NEW VARIANT OF THE LOWE SYNDROME].
    OBERITER V; NAJMAN E
    Ann Paediatr; 1964; 203():413-27. PubMed ID: 14262380
    [No Abstract]   [Full Text] [Related]  

  • 18. Tightly linked flanking markers for the Lowe oculocerebrorenal syndrome, with application to carrier assessment.
    Reilly DS; Lewis RA; Ledbetter DH; Nussbaum RL
    Am J Hum Genet; 1988 May; 42(5):748-55. PubMed ID: 2895982
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A balanced de novo X/autosome translocation in a girl with manifestations of Lowe syndrome.
    Hodgson SV; Heckmatt JZ; Hughes E; Crolla JA; Dubowitz V; Bobrow M
    Am J Med Genet; 1986 Mar; 23(3):837-47. PubMed ID: 3953680
    [TBL] [Abstract][Full Text] [Related]  

  • 20. X-linked mental retardation with the fragile X. A study of 15 families.
    Mattei JF; Mattei MG; Aumeras C; Auger M; Giraud F
    Hum Genet; 1981; 59(4):281-9. PubMed ID: 7333582
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.