221 related articles for article (PubMed ID: 24750831)
1. [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]
2. [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]
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 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]
5. 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]
6. 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]
7. [Oculo-cerebro-renal Lowe syndrome: clinical, biochemical and molecular studies in a Moroccan patient].
Chabaâ L; Monnier N; Dahri S; Jorio M; Lunardi J; Chabraoui L
Ann Biol Clin (Paris); 2006; 64(1):53-9. PubMed ID: 16420990
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
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. 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]
12. 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]
13. 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]
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. 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]
16. 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]
17. 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]
18. OCRL-mutated fibroblasts from patients with Dent-2 disease exhibit INPP5B-independent phenotypic variability relatively to Lowe syndrome cells.
Montjean R; Aoidi R; Desbois P; Rucci J; Trichet M; Salomon R; Rendu J; Fauré J; Lunardi J; Gacon G; Billuart P; Dorseuil O
Hum Mol Genet; 2015 Feb; 24(4):994-1006. PubMed ID: 25305077
[TBL] [Abstract][Full Text] [Related]
19. Onset mechanism of a female patient with Dent disease 2.
Okamoto T; Sakakibara N; Nozu K; Takahashi T; Hayashi A; Sato Y; Nagano C; Matsuo M; Iijima K; Manabe A
Clin Exp Nephrol; 2020 Oct; 24(10):946-954. PubMed ID: 32666344
[TBL] [Abstract][Full Text] [Related]
20. A novel interstitial deletion in Xq25, identified by array-CGH in a patient with Lowe syndrome.
Addis M; Meloni C; Congiu R; Santaniello S; Emma F; Zuffardi O; Ciccone R; Cao A; Melis MA; Cau M
Eur J Med Genet; 2007; 50(1):79-84. PubMed ID: 17142121
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
