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Items: 1 to 20 of 139

1.

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.

PMID:
10923037
2.

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. doi: 10.1007/s10157-008-0059-0. Epub 2008 May 24.

PMID:
18500547
3.
4.

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.

5.

Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients.

Lin T, Orrison BM, Suchy SF, Lewis RA, Nussbaum RL.

Mol Genet Metab. 1998 May;64(1):58-61.

PMID:
9682219
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.

PMID:
9788721
7.

Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene.

Satre V, Monnier N, Berthoin F, Ayuso C, Joannard A, Jouk PS, Lopez-Pajares I, Megabarne A, Philippe HJ, Plauchu H, Torres ML, Lunardi J.

Am J Hum Genet. 1999 Jul;65(1):68-76.

8.

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.

PMID:
15108291
9.

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.

10.

Identification of OCRL1 mutations in two Taiwanese Lowe syndrome patients.

Chou YY, Chao SC, Chiou YY, Lin SJ.

Acta Paediatr Taiwan. 2005 Jul-Aug;46(4):226-9.

PMID:
16381338
11.

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability.

Shrimpton AE, Hoopes RR Jr, Knohl SJ, Hueber P, Reed AA, Christie PT, Igarashi T, Lee P, Lehman A, White C, Milford DV, Sanchez MR, Unwin R, Wrong OM, Thakker RV, Scheinman SJ.

Nephron Physiol. 2009;112(2):p27-36. doi: 10.1159/000213506. Epub 2009 Apr 18.

PMID:
19390221
12.

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. doi: 10.1055/s-0032-1321900. Epub 2012 Aug 22.

PMID:
22915452
13.

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 Jan-Feb;55(1):82-5.

PMID:
23692838
14.

Novel OCRL1 mutations in patients with the phenotype of Dent disease.

Utsch B, Bökenkamp A, Benz MR, Besbas N, Dötsch J, Franke I, Fründ S, Gok F, Hoppe B, Karle S, Kuwertz-Bröking E, Laube G, Neb M, Nuutinen M, Ozaltin F, Rascher W, Ring T, Tasic V, van Wijk JA, Ludwig M.

Am J Kidney Dis. 2006 Dec;48(6):942.e1-14.

PMID:
17162149
15.

[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. Chinese. No abstract available.

PMID:
23158824
16.

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. doi: 10.1111/j.1440-1797.2011.01514.x.

PMID:
21854507
17.

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. Epub 2016 Apr 8.

PMID:
27059748
18.

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. doi: 10.1002/humu.21391. Epub 2011 Mar 10.

PMID:
21031565
19.

Species-specific difference in expression and splice-site choice in Inpp5b, an inositol polyphosphate 5-phosphatase paralogous to the enzyme deficient in Lowe Syndrome.

Bothwell SP, Farber LW, Hoagland A, Nussbaum RL.

Mamm Genome. 2010 Oct;21(9-10):458-66. doi: 10.1007/s00335-010-9281-7. Epub 2010 Sep 26.

20.

Structure and function of the Lowe syndrome protein OCRL1.

Lowe M.

Traffic. 2005 Sep;6(9):711-9. Review.

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