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Items: 1 to 20 of 159

1.

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.

2.

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
3.

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
4.

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
5.

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
6.

How are podocytes affected in nail-patella syndrome?

Witzgall R.

Pediatr Nephrol. 2008 Jul;23(7):1017-20. doi: 10.1007/s00467-007-0714-9. Epub 2008 Feb 6.

7.

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.

8.

[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
9.

Clinico-genetic study of nail-patella syndrome.

Lee BH, Cho TJ, Choi HJ, Kang HK, Lim IS, Park YH, Ha IS, Choi Y, Cheong HI.

J Korean Med Sci. 2009 Jan;24 Suppl:S82-6. doi: 10.3346/jkms.2009.24.S1.S82. Epub 2009 Jan 28.

10.

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
11.

[Clinical picture and molecular analysis in a familial case of Nail-Patella Syndrome--identification of a new mutation in LMX1B gene].

Szczałuba K, Obersztyn E, Kozłowski K, Ravazzolo R, Gołabek B, Mazurczak T.

Med Wieku Rozwoj. 2005 Apr-Jun;9(2):195-203. Polish.

PMID:
16085960
12.

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.

13.

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.

14.

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.

15.

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.

16.

A novel LMX1B nonsense mutation in a family with nail-patella syndrome.

Oshimo T, Fukai K, Higashi N, Kitano T, Imai Y, Shintaku H, Ishii M.

J Dermatol Sci. 2008 Oct;52(1):57-60. doi: 10.1016/j.jdermsci.2008.04.014. Epub 2008 Jun 17. No abstract available.

PMID:
18562181
17.

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
18.

The LIM-homeodomain transcription factor Lmx1b plays a crucial role in podocytes.

Rohr C, Prestel J, Heidet L, Hosser H, Kriz W, Johnson RL, Antignac C, Witzgall R.

J Clin Invest. 2002 Apr;109(8):1073-82.

19.

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
20.

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