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 *

129 related articles for article (PubMed ID: 19168822)

  • 1. Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of Lowe syndrome with novel OCRL1 gene mutation.
    Yuksel A; Karaca E; Albayram MS
    J Child Neurol; 2009 Jan; 24(1):93-6. PubMed ID: 19168822
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel OCRL1 mutation in a patient with the mild phenotype of Lowe syndrome.
    Sugimoto K; Nishi H; Miyazawa T; Fujita S; Okada M; Takemura T
    Tohoku J Exp Med; 2014 Mar; 232(3):163-6. PubMed ID: 24614960
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.
    Chou YY; Chao SC; Chiou YY; Lin SJ
    Acta Paediatr Taiwan; 2005; 46(4):226-9. PubMed ID: 16381338
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome.
    Kanık A; Kasap-Demir B; Ateşli R; Eliaçık K; Yavaşcan O; Helvacı M
    Turk J Pediatr; 2013; 55(1):82-5. PubMed ID: 23692838
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination.
    Röschinger W; Muntau AC; Rudolph G; Roscher AA; Kammerer S
    Mol Genet Metab; 2000 Mar; 69(3):213-22. PubMed ID: 10767176
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Lowe syndrome - Case report with a novel mutation in the oculocerebrorenal gene.
    Sethi S; Sethi N; Mehta S; Kaur S; Makkar V; Sohal PM
    Saudi J Kidney Dis Transpl; 2020; 31(1):285-288. PubMed ID: 32129227
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A novel and de novo deletion in the OCRL1 gene associated with a severe form of Lowe syndrome.
    Peces R; Peces C; de Sousa E; Vega C; Selgas R; Nevado J
    Int Urol Nephrol; 2013 Dec; 45(6):1767-71. PubMed ID: 22821049
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Structure and function of the Lowe syndrome protein OCRL1.
    Lowe M
    Traffic; 2005 Sep; 6(9):711-9. PubMed ID: 16101675
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [A case report of genetic analysis in the OCRL1 gene in Lowe syndrome].
    Jiang F; Gao Y; Ou ZY
    Zhonghua Er Ke Za Zhi; 2012 Sep; 50(9):708-9. PubMed ID: 23158824
    [No Abstract]   [Full Text] [Related]  

  • 12. Identification of two novel mutations in the OCRL1 gene in two Chinese families with Lowe syndrome.
    Ke YH; He JW; Fu WZ; Zhang ZL
    Nephrology (Carlton); 2012 Jan; 17(1):20-5. PubMed ID: 21854507
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.
    Kawano T; Indo Y; Nakazato H; Shimadzu M; Matsuda I
    Am J Med Genet; 1998 Jun; 77(5):348-55. PubMed ID: 9632163
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe.
    Topaloğlu R; Ludwig M; Çelebi Tayfur A
    Turk J Pediatr; 2013; 55(3):331-4. PubMed ID: 24217083
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [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]  

  • 16. Lowe syndrome.
    Loi M
    Orphanet J Rare Dis; 2006 May; 1():16. PubMed ID: 16722554
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A novel pathogenic DNA variation in the OCRL1 gene in Lowe syndrome.
    Şimşek E; Şimşek T; Dallar Y; Can Ö; Willems PJ
    J Clin Res Pediatr Endocrinol; 2011; 3(1):29-31. PubMed ID: 21448331
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.
    Song E; Luo N; Alvarado JA; Lim M; Walnuss C; Neely D; Spandau D; Ghaffarieh A; Sun Y
    Sci Rep; 2017 May; 7(1):1442. PubMed ID: 28473699
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Pigmentary mosaicism, subcortical band heterotopia, and brain cystic lesions.
    Ruggieri M; Roggini M; Spalice A; Addis M; Iannetti P
    Pediatr Neurol; 2009 May; 40(5):383-6. PubMed ID: 19380077
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutations in OCRL1 gene in Indian children with Lowe syndrome.
    Sethi SK; Bagga A; Gulati A; Hari P; Gupta N; Lunardi J
    Clin Exp Nephrol; 2008 Oct; 12(5):358-362. PubMed ID: 18500547
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.