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Items: 1 to 20 of 100

1.

Biochemical properties of the recurrent LMX1b truncated mutant carried in a Taiwanese family with nail-patella syndrome.

Wang WM, Chen JF, Liu ST, Hsu YJ, Liu YC, Huang SM.

Br J Dermatol. 2014 Aug;171(2):356-62. doi: 10.1111/bjd.13051. Epub 2014 Jul 26.

PMID:
24720768
2.

Functional characterization of LMX1B mutations associated with nail-patella syndrome.

Sato U, Kitanaka S, Sekine T, Takahashi S, Ashida A, Igarashi T.

Pediatr Res. 2005 Jun;57(6):783-8. Epub 2005 Mar 17.

PMID:
15774843
3.

c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma.

Romero P, Sanhueza F, Lopez P, Reyes L, Herrera L.

Mol Vis. 2011;17:1929-39. Epub 2011 Jul 16.

4.

LMX1B mutation with residual transcriptional activity as a cause of isolated glomerulopathy.

Isojima T, Harita Y, Furuyama M, Sugawara N, Ishizuka K, Horita S, Kajiho Y, Miura K, Igarashi T, Hattori M, Kitanaka S.

Nephrol Dial Transplant. 2014 Jan;29(1):81-8. doi: 10.1093/ndt/gft359. Epub 2013 Sep 15.

PMID:
24042019
5.

Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man.

Bongers EM, de Wijs IJ, Marcelis C, Hoefsloot LH, Knoers NV.

Eur J Hum Genet. 2008 Oct;16(10):1240-4. doi: 10.1038/ejhg.2008.83. Epub 2008 Apr 16.

6.

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome.

Vollrath D, Jaramillo-Babb VL, Clough MV, McIntosh I, Scott KM, Lichter PR, Richards JE.

Hum Mol Genet. 1998 Jul;7(7):1091-8. Erratum in: Hum Mol Genet 1998 Aug;7(8):1333.

PMID:
9618165
7.

LMX1B transactivation and expression in nail-patella syndrome.

Dreyer SD, Morello R, German MS, Zabel B, Winterpacht A, Lunstrum GP, Horton WA, Oberg KC, Lee B.

Hum Mol Genet. 2000 Apr 12;9(7):1067-74.

PMID:
10767331
8.

Mutation analysis of LMX1B gene in nail-patella syndrome patients.

McIntosh I, Dreyer SD, Clough MV, Dunston JA, Eyaid W, Roig CM, Montgomery T, Ala-Mello S, Kaitila I, Winterpacht A, Zabel B, Frydman M, Cole WG, Francomano CA, Lee B.

Am J Hum Genet. 1998 Dec;63(6):1651-8.

9.

A synonymous genetic alteration of LMX1B in a family with nail-patella syndrome.

Ham JH, Shin SJ, Joo KR, Park SM, Sung HY, Kim JS, Choi JS, Choi YJ, Song HC, Choi EJ.

Korean J Intern Med. 2009 Sep;24(3):274-8. doi: 10.3904/kjim.2009.24.3.274. Epub 2009 Aug 26.

10.

A microdeletion of chromosome 9q33.3 encompasses the entire LMX1B gene in a Chinese family with nail patella syndrome.

Jiang S, Zhang J, Huang D, Zhang Y, Liu X, Wang Y, He R, Zhao Y.

Int J Mol Sci. 2014 Nov 5;15(11):20158-68. doi: 10.3390/ijms151120158.

11.

LMX1B mutations cause hereditary FSGS without extrarenal involvement.

Boyer O, Woerner S, Yang F, Oakeley EJ, Linghu B, Gribouval O, Tête MJ, Duca JS, Klickstein L, Damask AJ, Szustakowski JD, Heibel F, Matignon M, Baudouin V, Chantrel F, Champigneulle J, Martin L, Nitschké P, Gubler MC, Johnson KJ, Chibout SD, Antignac C.

J Am Soc Nephrol. 2013 Jul;24(8):1216-22. doi: 10.1681/ASN.2013020171. Epub 2013 May 16.

12.

Novel LMX1B mutation in familial nail-patella syndrome with variable expression of open angle glaucoma.

Millá E, Hernan I, Gamundi MJ, Martínez-Gimeno M, Carballo M.

Mol Vis. 2007 Apr 27;13:639-48.

13.
14.

In vivo expression of putative LMX1B targets in nail-patella syndrome kidneys.

Heidet L, Bongers EM, Sich M, Zhang SY, Loirat C, Meyrier A, Broyer M, Landthaler G, Faller B, Sado Y, Knoers NV, Gubler MC.

Am J Pathol. 2003 Jul;163(1):145-55.

15.

Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy.

Bongers EM, Huysmans FT, Levtchenko E, de Rooy JW, Blickman JG, Admiraal RJ, Huygen PL, Cruysberg JR, Toolens PA, Prins JB, Krabbe PF, Borm GF, Schoots J, van Bokhoven H, van Remortele AM, Hoefsloot LH, van Kampen A, Knoers NV.

Eur J Hum Genet. 2005 Aug;13(8):935-46.

16.

Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) patients.

Hamlington JD, Jones C, McIntosh I.

Hum Mutat. 2001 Nov;18(5):458.

PMID:
11668639
17.

A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.

Marini M, Bocciardi R, Gimelli S, Di Duca M, Divizia MT, Baban A, Gaspar H, Mammi I, Garavelli L, Cerone R, Emma F, Bedeschi MF, Tenconi R, Sensi A, Salmaggi A, Bengala M, Mari F, Colussi G, Szczaluba K, Antonarakis SE, Seri M, Lerone M, Ravazzolo R.

Genet Med. 2010 Jul;12(7):431-9. doi: 10.1097/GIM.0b013e3181e21afa.

PMID:
20531206
18.

A novel mutation in LMX1B gene causes nail-patella syndrome in a large Chinese family.

Lin Y, Zhao J, Chen S, Zeng X, Du Q, Yang Y, Lu F, Pu Y, Yang Z.

Bone. 2008 Sep;43(3):591-5. doi: 10.1016/j.bone.2008.04.025. Epub 2008 May 16.

PMID:
18595794
19.

Nail-patella syndrome. A case with a de novo mutation in the LMX1B gene not previously described.

Álvarez-Martín N, Gamundi MJ, Hernan I, Carballo M, Luis-Yanes MI, García-Nieto V.

Nefrologia. 2013;33(4):585-6. doi: 10.3265/Nefrologia.pre2013.Apr.12006. English, Spanish. No abstract available.

20.

Nail-patella syndrome: identification of mutations in the LMX1B gene in Dutch families.

Knoers NV, Bongers EM, van Beersum SE, Lommen EJ, van Bokhoven H, Hol FA.

J Am Soc Nephrol. 2000 Sep;11(9):1762-6.

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