260 related articles for article (PubMed ID: 27059748)
1. Novel OCRL1 gene mutations in six Chinese families with Lowe syndrome.
Gao Y; Jiang F; Ou ZY
World J Pediatr; 2016 Nov; 12(4):484-488. PubMed ID: 27059748
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. [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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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 Aug; 39(8):2377-2391. PubMed ID: 38589698
[TBL] [Abstract][Full Text] [Related]
9. Novel OCRL mutations in Chinese children with Lowe syndrome.
Zhang YQ; Wang F; Ding J; Yan H; Yang YL
World J Pediatr; 2013 Feb; 9(1):53-7. PubMed ID: 23389333
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Functional Characterization and Rescue of a Deep Intronic Mutation in OCRL Gene Responsible for Lowe Syndrome.
Rendu J; Montjean R; Coutton C; Suri M; Chicanne G; Petiot A; Brocard J; Grunwald D; Pietri Rouxel F; Payrastre B; Lunardi J; Dorseuil O; Marty I; Fauré J
Hum Mutat; 2017 Feb; 38(2):152-159. PubMed ID: 27790796
[TBL] [Abstract][Full Text] [Related]
12. [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]
13. Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome.
Lin T; Orrison BM; Leahey AM; Suchy SF; Bernard DJ; Lewis RA; Nussbaum RL
Am J Hum Genet; 1997 Jun; 60(6):1384-8. PubMed ID: 9199559
[TBL] [Abstract][Full Text] [Related]
14. 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]
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. 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]
17. Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management.
Ma X; Ning K; Jabbehdari S; Prosseda PP; Hu Y; Shue A; Lambert SR; Sun Y
Eur J Ophthalmol; 2020 Sep; 30(5):966-973. PubMed ID: 32340490
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling.
Monnier N; Satre V; Lerouge E; Berthoin F; Lunardi J
Hum Mutat; 2000; 16(2):157-65. PubMed ID: 10923037
[TBL] [Abstract][Full Text] [Related]
20. Genotype Phenotype Correlation in Dent Disease 2 and Review of the Literature:
Gianesello L; Arroyo J; Del Prete D; Priante G; Ceol M; Harris PC; Lieske JC; Anglani F
Genes (Basel); 2021 Oct; 12(10):. PubMed ID: 34680992
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]