Similar articles for PMID: 10854116

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1

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. Hamlington JD, et al. Eur J Hum Genet. 2000 Apr;8(4):311-4. doi: 10.1038/sj.ejhg.5200448. Eur J Hum Genet. 2000. PMID: 10854116

2

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

Sato U, Kitanaka S, Sekine T, Takahashi S, Ashida A, Igarashi T. Sato U, et al. Pediatr Res. 2005 Jun;57(6):783-8. doi: 10.1203/01.PDR.0000157674.63621.2C. Epub 2005 Mar 17. Pediatr Res. 2005. PMID: 15774843

3

Restricted distribution of loss-of-function mutations within the LMX1B genes of nail-patella syndrome patients.

Clough MV, Hamlington JD, McIntosh I. Clough MV, et al. Hum Mutat. 1999;14(6):459-65. doi: 10.1002/(SICI)1098-1004(199912)14:6<459::AID-HUMU3>3.0.CO;2-9. Hum Mutat. 1999. PMID: 10571942

4

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

Hamlington JD, Jones C, McIntosh I. Hamlington JD, et al. Hum Mutat. 2001 Nov;18(5):458. doi: 10.1002/humu.1217. Hum Mutat. 2001. PMID: 11668639

5

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. Lin Y, et al. Bone. 2008 Sep;43(3):591-5. doi: 10.1016/j.bone.2008.04.025. Epub 2008 May 16. Bone. 2008. PMID: 18595794

6

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. Bongers EM, et al. Eur J Hum Genet. 2008 Oct;16(10):1240-4. doi: 10.1038/ejhg.2008.83. Epub 2008 Apr 16. Eur J Hum Genet. 2008. PMID: 18414507

7

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. Bongers EM, et al. Eur J Hum Genet. 2005 Aug;13(8):935-46. doi: 10.1038/sj.ejhg.5201446. Eur J Hum Genet. 2005. PMID: 15928687

8

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. Dreyer SD, et al. Nat Genet. 1998 May;19(1):47-50. doi: 10.1038/ng0598-47. Nat Genet. 1998. PMID: 9590287

9

The human LMX1B gene: transcription unit, promoter, and pathogenic mutations.

Dunston JA, Hamlington JD, Zaveri J, Sweeney E, Sibbring J, Tran C, Malbroux M, O'Neill JP, Mountford R, McIntosh I. Dunston JA, et al. Genomics. 2004 Sep;84(3):565-76. doi: 10.1016/j.ygeno.2004.06.002. Genomics. 2004. PMID: 15498463

10

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. Marini M, et al. Int J Mol Med. 2003 Jul;12(1):79-82. Int J Mol Med. 2003. PMID: 12792813

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