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Results: 1 to 20 of 302

Similar articles for PubMed (Select 15627218)

1.

Dent Disease with mutations in OCRL1.

Hoopes RR Jr, Shrimpton AE, Knohl SJ, Hueber P, Hoppe B, Matyus J, Simckes A, Tasic V, Toenshoff B, Suchy SF, Nussbaum RL, Scheinman SJ.

Am J Hum Genet. 2005 Feb;76(2):260-7. Epub 2004 Dec 30. Erratum in: Am J Hum Genet. 2007 Sep;81(3):634.

2.

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
3.

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
4.

Renal manifestations of Dent disease and Lowe syndrome.

Cho HY, Lee BH, Choi HJ, Ha IS, Choi Y, Cheong HI.

Pediatr Nephrol. 2008 Feb;23(2):243-9. Epub 2007 Nov 24.

PMID:
18038239
5.

OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.

Lozanovski VJ, Ristoska-Bojkovska N, Korneti P, Gucev Z, Tasic V.

World J Pediatr. 2011 Aug;7(3):280-3. doi: 10.1007/s12519-011-0312-6. Epub 2011 Aug 7.

PMID:
21822997
6.

Locus heterogeneity of Dent's disease: OCRL1 and TMEM27 genes in patients with no CLCN5 mutations.

Tosetto E, Addis M, Caridi G, Meloni C, Emma F, Vergine G, Stringini G, Papalia T, Barbano G, Ghiggeri GM, Ruggeri L, Miglietti N, D Angelo A, Melis MA, Anglani F.

Pediatr Nephrol. 2009 Oct;24(10):1967-73. doi: 10.1007/s00467-009-1228-4. Epub 2009 Jul 7.

PMID:
19582483
7.

Dent-2 disease: a mild variant of Lowe syndrome.

Bökenkamp A, Böckenhauer D, Cheong HI, Hoppe B, Tasic V, Unwin R, Ludwig M.

J Pediatr. 2009 Jul;155(1):94-9. doi: 10.1016/j.jpeds.2009.01.049.

PMID:
19559295
8.

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
9.
10.

OCRL1 mutations in patients with Dent disease phenotype in Japan.

Sekine T, Nozu K, Iyengar R, Fu XJ, Matsuo M, Tanaka R, Iijima K, Matsui E, Harita Y, Inatomi J, Igarashi T.

Pediatr Nephrol. 2007 Jul;22(7):975-80. Epub 2007 Mar 24.

PMID:
17384968
11.

Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction.

Bockenhauer D, Bokenkamp A, van't Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, Ludwig M.

Clin J Am Soc Nephrol. 2008 Sep;3(5):1430-6. doi: 10.2215/CJN.00520108. Epub 2008 May 14.

12.

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.

13.

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
14.

Functional overlap between murine Inpp5b and Ocrl1 may explain why deficiency of the murine ortholog for OCRL1 does not cause Lowe syndrome in mice.

Jänne PA, Suchy SF, Bernard D, MacDonald M, Crawley J, Grinberg A, Wynshaw-Boris A, Westphal H, Nussbaum RL.

J Clin Invest. 1998 May 15;101(10):2042-53.

15.

The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function.

Lichter-Konecki U, Farber LW, Cronin JS, Suchy SF, Nussbaum RL.

Mol Genet Metab. 2006 Sep-Oct;89(1-2):121-8. Epub 2006 Jun 13.

PMID:
16777452
16.

Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.

Kawano T, Indo Y, Nakazato H, Shimadzu M, Matsuda I.

Am J Med Genet. 1998 Jun 5;77(5):348-55.

PMID:
9632163
17.

First report of prenatal biochemical diagnosis of Lowe syndrome.

Suchy SF, Lin T, Horwitz JA, O'Brien WE, Nussbaum RL.

Prenat Diagn. 1998 Nov;18(11):1117-21.

PMID:
9854717
18.

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
19.

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;232(3):163-6.

20.

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
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