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Items: 1 to 20 of 144

1.

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
2.

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.

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.

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.

Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B.

Nat Genet. 1998 May;19(1):47-50.

PMID:
9590287
5.
6.

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.

7.

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.

8.

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
9.

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
10.

Identification of LMX1B gene point mutations in italian patients affected with Nail-Patella syndrome.

Seri M, Melchionda S, Dreyer S, Marini M, Carella M, Cusano R, Piemontese MR, Caroli F, Silengo M, Zelante L, Romeo G, Ravazzolo R, Gasparini P, Lee B.

Int J Mol Med. 1999 Sep;4(3):285-90.

PMID:
10425280
11.

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
12.

Limb and kidney defects in Lmx1b mutant mice suggest an involvement of LMX1B in human nail patella syndrome.

Chen H, Lun Y, Ovchinnikov D, Kokubo H, Oberg KC, Pepicelli CV, Gan L, Lee B, Johnson RL.

Nat Genet. 1998 May;19(1):51-5.

PMID:
9590288
14.

[From gene to disease; the nail-patella syndrome and the LMX1B gene].

Bongers EM, Knoers NV.

Ned Tijdschr Geneeskd. 2003 Jan 11;147(2):67-9. Review. Dutch.

PMID:
12602071
15.

Confirmation of CLIM2/LMX1B interaction by yeast two-hybrid screening and analysis of its involvement in nail-patella syndrome.

Marini M, Bongers EM, Cusano R, Di Duca M, Seri M, Knoers NV, Ravazzolo R.

Int J Mol Med. 2003 Jul;12(1):79-82.

PMID:
12792813
16.

Nail-patella syndrome. Overview on clinical and molecular findings.

Bongers EM, Gubler MC, Knoers NV.

Pediatr Nephrol. 2002 Sep;17(9):703-12. Epub 2002 Jul 30. Review.

PMID:
12215822
17.

Deletion of a branch-point consensus sequence in the LMX1B gene causes exon skipping in a family with nail patella syndrome.

Hamlington JD, Clough MV, Dunston JA, McIntosh I.

Eur J Hum Genet. 2000 Apr;8(4):311-4.

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.

A neurological phenotype in nail patella syndrome (NPS) patients illuminated by studies of murine Lmx1b expression.

Dunston JA, Reimschisel T, Ding YQ, Sweeney E, Johnson RL, Chen ZF, McIntosh I.

Eur J Hum Genet. 2005 Mar;13(3):330-5.

20.

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.

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