BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

74 related articles for article (PubMed ID: 2017228)

  • 1. 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]  

  • 2. Insulin Receptor and the Kidney: Nephrocalcinosis in Patients with Recessive INSR Mutations.
    Simpkin A; Cochran E; Cameron F; Dattani M; de Bock M; Dunger DB; Forsander G; Guran T; Harris J; Isaac I; Hussain K; Kleta R; Peters C; Tasic V; Williams R; Yap Kok Peng F; O''Rahilly S; Gorden P; Semple RK; Bockenhauer D
    Nephron Physiol; 2014; 128(3-4):55-61. PubMed ID: 25358339
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Lowe Oculocerebrorenal Syndrome Comparison of Anterior Segment Anatomy in Eyes with and without Glaucoma.
    Shah DM; Wei L; Forbes HE; Cho E; Miglani T; Dortonne I; Manrique MM; Martinez C; Madigan WP; Jaafar MS; Levin MR; Alexander JL
    Ophthalmol Glaucoma; 2024; 7(1):101-102. PubMed ID: 37364636
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Long-term kidney function of Lowe syndrome: A nationwide study of pediatric and adult patients.
    Ando T; Miura K; Yabuuchi T; Shirai Y; Ishizuka K; Kanda S; Harita Y; Hirasawa K; Hamada R; Ishikura K; Inoue E; Hattori M
    Nephrol Dial Transplant; 2024 Apr; ():. PubMed ID: 38569655
    [No Abstract]   [Full Text] [Related]  

  • 5. 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]  

  • 6. A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL.
    Pasternack SM; Böckenhauer D; Refke M; Tasic V; Draaken M; Conrad C; Born M; Betz RC; Reutter H; Ludwig M
    Klin Padiatr; 2013 Jan; 225(1):29-33. PubMed ID: 22915452
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.
    Du R; Zhou C; Chen S; Li T; Lin Y; Xu A; Huang Y; Mei H; Huang X; Tan D; Zheng R; Liang C; Cai Y; Shao Y; Zhang W; Liu L; Zeng C
    Pediatr Nephrol; 2024 Apr; ():. PubMed ID: 38589698
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mechanism of the Regulation of Plasma Cholesterol Levels by PI(4,5)P
    Qin Y; Medina MW
    Adv Exp Med Biol; 2023; 1422():89-119. PubMed ID: 36988878
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Beneficial effects of starting oral cysteamine treatment in the first 2 months of life on glomerular and tubular kidney function in infantile nephropathic cystinosis.
    Hohenfellner K; Nießl C; Haffner D; Oh J; Okorn C; Palm K; Schlingmann KP; Wygoda S; Gahl WA
    Mol Genet Metab; 2022 Aug; 136(4):282-288. PubMed ID: 35843134
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms.
    Sena C; Iannello G; Skowronski AA; Dannheim K; Cheung L; Agrawal PB; Hirschhorn JN; Zeitler P; LeDuc CA; Stratigopoulos G; Thaker VV
    J Med Genet; 2022 Dec; 59(12):1171-1178. PubMed ID: 35803701
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Ocular findings and genomics of X-linked recessive disorders: A review.
    Hassan A; Mir YR; Kuchay RAH
    Indian J Ophthalmol; 2022 Jul; 70(7):2386-2396. PubMed ID: 35791118
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Acute kidney injury leading to CKD is associated with a persistence of metabolic dysfunction and hypertriglyceridemia.
    Harzandi A; Lee S; Bidkhori G; Saha S; Hendry BM; Mardinoglu A; Shoaie S; Sharpe CC
    iScience; 2021 Feb; 24(2):102046. PubMed ID: 33554059
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A role for OCRL in glomerular function and disease.
    Preston R; Naylor RW; Stewart G; Bierzynska A; Saleem MA; Lowe M; Lennon R
    Pediatr Nephrol; 2020 Apr; 35(4):641-648. PubMed ID: 31811534
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature.
    Tatsi P; Papanikolaou GE; Chartomatsidou T; Papoulidis I; Athanasiadis A; Najdecki R; Timotheou E
    J Med Case Rep; 2019 Nov; 13(1):325. PubMed ID: 31676009
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Whole-genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome.
    Zheng B; Chen Q; Wang C; Zhou W; Chen Y; Ding G; Jia Z; Zhang A; Huang S
    Mol Genet Genomic Med; 2019 Sep; 7(9):e876. PubMed ID: 31376231
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel mutation in
    Zhou FQ; Wang QW; Liu ZZ; Zhang XL; Wang DN; Dongye MM; Lin HT; Chen WR
    Int J Ophthalmol; 2019; 12(7):1057-1060. PubMed ID: 31341792
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Anesthetic management for a patient with oculocerebrorenal (Lowe's) syndrome.
    Komatsu H; Sakakibara M; Yoshimura Y; Kinoshita H; Yokono S; Ogli K
    J Anesth; 1994 Mar; 8(1):121-123. PubMed ID: 28921216
    [No Abstract]   [Full Text] [Related]  

  • 18. The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.
    De Matteis MA; Staiano L; Emma F; Devuyst O
    Nat Rev Nephrol; 2017 Aug; 13(8):455-470. PubMed ID: 28669993
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Kidney Tubular Ablation of
    Inoue K; Balkin DM; Liu L; Nandez R; Wu Y; Tian X; Wang T; Nussbaum R; De Camilli P; Ishibe S
    J Am Soc Nephrol; 2017 May; 28(5):1399-1407. PubMed ID: 27895154
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 4.