BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

106 related articles for article (PubMed ID: 21692684)

  • 1. Two cases of Lowe syndrome presenting as increased fetal nuchal translucency.
    Lin SY; Lee CN; Shih JC; Lin CH; Su YN
    J Perinat Med; 2011 Jul; 39(4):483-5. PubMed ID: 21692684
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. [Investigation and OCRL mutation analysis of a family with oculocerebrorenal syndrome of Lowe].
    Shi RM; Bian XH; Li LM; Liu XH
    Zhongguo Dang Dai Er Ke Za Zhi; 2014 Apr; 16(4):366-9. PubMed ID: 24750831
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [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]  

  • 6. Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts.
    Murakami Y; Wataya-Kaneda M; Iwatani Y; Kubota T; Nakano H; Katayama I
    J Dermatol; 2018 Mar; 45(3):372-373. PubMed ID: 28516463
    [No Abstract]   [Full Text] [Related]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. 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]  

  • 11. Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome.
    Kubota T; Sakurai A; Arakawa K; Shimazu M; Wakui K; Furihata K; Fukushima Y
    Clin Genet; 1998 Sep; 54(3):199-202. PubMed ID: 9788721
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinical utility gene card for: Lowe syndrome.
    Bökenkamp A; Levtchenko E; Recker F; Ludwig M
    Eur J Hum Genet; 2015 Jun; 23(6):889-. PubMed ID: 25182134
    [No Abstract]   [Full Text] [Related]  

  • 13. Antenatal diagnosis of Lowe syndrome.
    Sethi SK; Lunardi J; Kabra M; Deka D; Bagga A
    Clin Exp Nephrol; 2010 Jun; 14(3):296-7. PubMed ID: 20162319
    [No Abstract]   [Full Text] [Related]  

  • 14. [Corneal changes in Lowe syndrome].
    Reinhard T
    Ophthalmologe; 2004 Nov; 101(11):1149; author reply 1149. PubMed ID: 15575073
    [No Abstract]   [Full Text] [Related]  

  • 15. Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe.
    Leahey AM; Charnas LR; Nussbaum RL
    Hum Mol Genet; 1993 Apr; 2(4):461-3. PubMed ID: 8504307
    [TBL] [Abstract][Full Text] [Related]  

  • 16. From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.
    Hichri H; Rendu J; Monnier N; Coutton C; Dorseuil O; Poussou RV; Baujat G; Blanchard A; Nobili F; Ranchin B; Remesy M; Salomon R; Satre V; Lunardi J
    Hum Mutat; 2011 Apr; 32(4):379-88. PubMed ID: 21031565
    [TBL] [Abstract][Full Text] [Related]  

  • 17. OCRL mutation analysis in Italian patients with Lowe syndrome.
    Addis M; Loi M; Lepiani C; Cau M; Melis MA
    Hum Mutat; 2004 May; 23(5):524-5. PubMed ID: 15108291
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Analysis of OCRL gene mutation in a male infant with Lowe syndrome].
    Chen S; Zhang X; Chen L; Tian Q; Jiang W
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Apr; 31(2):223-7. PubMed ID: 24711037
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Second messengers and Lowe syndrome.
    Irvine R
    Nat Genet; 1992 Aug; 1(5):315-6. PubMed ID: 1338770
    [No Abstract]   [Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 6.