BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

251 related articles for article (PubMed ID: 18038239)

  • 41. Incomplete cryptic splicing by an intronic mutation of OCRL in patients with partial phenotypes of Lowe syndrome.
    Nakano E; Yoshida A; Miyama Y; Yabuuchi T; Kajiho Y; Kanda S; Miura K; Oka A; Harita Y
    J Hum Genet; 2020 Oct; 65(10):831-839. PubMed ID: 32427950
    [TBL] [Abstract][Full Text] [Related]  

  • 42. An atypical Dent's disease phenotype caused by co-inheritance of mutations at CLCN5 and OCRL genes.
    Addis M; Meloni C; Tosetto E; Ceol M; Cristofaro R; Melis MA; Vercelloni P; Del Prete D; Marra G; Anglani F
    Eur J Hum Genet; 2013 Jun; 21(6):687-90. PubMed ID: 23047739
    [TBL] [Abstract][Full Text] [Related]  

  • 43. 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]  

  • 44. Genetic Analysis of Dent's Disease and Functional Research of CLCN5 Mutations.
    Zhang Y; Fang X; Xu H; Shen Q
    DNA Cell Biol; 2017 Dec; 36(12):1151-1158. PubMed ID: 29058463
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Truncating mutations in the chloride/proton ClC-5 antiporter gene in Seven Jewish Israeli families with Dent's 1 disease.
    Dinour D; Davidovitz M; Levin-Iaina N; Lotan D; Cleper R; Weissman I; Knecht A; Holtzman EJ
    Nephron Clin Pract; 2009; 112(4):c262-7. PubMed ID: 19546586
    [TBL] [Abstract][Full Text] [Related]  

  • 46. Case report: a Chinese girl with dent disease 1 and turner syndrome due to a hemizygous CLCN5 gene mutation and Isochromosome (Xq).
    Ye Y; Wang J; Quan X; Xu K; Fu H; Gu W; Mao J
    BMC Nephrol; 2020 May; 21(1):171. PubMed ID: 32393202
    [TBL] [Abstract][Full Text] [Related]  

  • 47. 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]  

  • 48. Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon.
    Gianesello L; Del Prete D; Anglani F; Calò LA
    Hum Genet; 2021 Mar; 140(3):401-421. PubMed ID: 32860533
    [TBL] [Abstract][Full Text] [Related]  

  • 49. 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]  

  • 50. The first Sri Lankan family with Dent disease-1 due to a pathogenic variant in the CLCN5 gene: a case report.
    Ranawaka R; Sirisena ND; Dayasiri KC; Cogal AG; Lieske JC; Gamage MP; Dissanayake VHW
    BMC Res Notes; 2017 Oct; 10(1):539. PubMed ID: 29084614
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
    Sakakibara N; Ijuin T; Horinouchi T; Yamamura T; Nagano C; Okada E; Ishiko S; Aoto Y; Rossanti R; Ninchoji T; Awano H; Nagase H; Minamikawa S; Tanaka R; Matsuyama T; Nagatani K; Kamei K; Jinnouchi K; Ohtsuka Y; Oka M; Araki Y; Tanaka T; Harada MS; Igarashi T; Kitahara H; Morisada N; Nakamura SI; Okada T; Iijima K; Nozu K
    Nephrol Dial Transplant; 2022 Jan; 37(2):262-270. PubMed ID: 34586410
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5).
    Lloyd SE; Pearce SH; Günther W; Kawaguchi H; Igarashi T; Jentsch TJ; Thakker RV
    J Clin Invest; 1997 Mar; 99(5):967-74. PubMed ID: 9062355
    [TBL] [Abstract][Full Text] [Related]  

  • 53. [Clinical and genetic analysis of Dent disease in 4 Chinese children].
    Jian S; Wei M; He YY; Wang W; Kang YL; Sun ZX
    Zhongguo Dang Dai Er Ke Za Zhi; 2015 Dec; 17(12):1261-6. PubMed ID: 26695661
    [TBL] [Abstract][Full Text] [Related]  

  • 54. 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]  

  • 55. A 3D Renal Proximal Tubule on Chip Model Phenocopies Lowe Syndrome and Dent II Disease Tubulopathy.
    Naik S; Wood AR; Ongenaert M; Saidiyan P; Elstak ED; Lanz HL; Stallen J; Janssen R; Smythe E; Erdmann KS
    Int J Mol Sci; 2021 May; 22(10):. PubMed ID: 34069732
    [TBL] [Abstract][Full Text] [Related]  

  • 56. 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]  

  • 57. Dent-2 disease with a Bartter-like phenotype caused by the Asp631Glu mutation in the OCRL gene.
    Drosataki E; Maragkou S; Dermitzaki K; Stavrakaki I; Lygerou D; Latsoudis H; Pleros C; Petrakis I; Zaganas I; Stylianou K
    BMC Nephrol; 2022 May; 23(1):182. PubMed ID: 35549682
    [TBL] [Abstract][Full Text] [Related]  

  • 58. The oculocerebrorenal syndrome of Lowe: an update.
    Bökenkamp A; Ludwig M
    Pediatr Nephrol; 2016 Dec; 31(12):2201-2212. PubMed ID: 27011217
    [TBL] [Abstract][Full Text] [Related]  

  • 59. 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]  

  • 60. 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]  

    [Previous]   [Next]    [New Search]
    of 13.