Dunston JA - Search Results

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. Among authors: dunston ja. Eur J Hum Genet. 2000 Apr;8(4):311-4. doi: 10.1038/sj.ejhg.5200448. Eur J Hum Genet. 2000. PMID: 10854116

2

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

3

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. Dunston JA, et al. Eur J Hum Genet. 2005 Mar;13(3):330-5. doi: 10.1038/sj.ejhg.5201332. Eur J Hum Genet. 2005. PMID: 15562281

4

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. McIntosh I, et al. Among authors: dunston ja. Am J Hum Genet. 1998 Dec;63(6):1651-8. doi: 10.1086/302165. Am J Hum Genet. 1998. PMID: 9837817 Free PMC article.

5

Phenotype severity and genetic variation at the disease locus: an investigation of nail dysplasia in the nail patella syndrome.

Dunston JA, Lin S, Park JW, Malbroux M, McIntosh I. Dunston JA, et al. Ann Hum Genet. 2005 Jan;69(Pt 1):1-8. doi: 10.1046/j.1529-8817.2004.00133.x. Ann Hum Genet. 2005. PMID: 15638822

6

Nail patella syndrome revisited: 50 years after linkage.

McIntosh I, Dunston JA, Liu L, Hoover-Fong JE, Sweeney E. McIntosh I, et al. Among authors: dunston ja. Ann Hum Genet. 2005 Jul;69(Pt 4):349-63. doi: 10.1111/j.1529-8817.2005.00191.x. Ann Hum Genet. 2005. PMID: 15996164

7

Identification of TSIX, encoding an RNA antisense to human XIST, reveals differences from its murine counterpart: implications for X inactivation.

Migeon BR, Chowdhury AK, Dunston JA, McIntosh I. Migeon BR, et al. Among authors: dunston ja. Am J Hum Genet. 2001 Nov;69(5):951-60. doi: 10.1086/324022. Epub 2001 Sep 12. Am J Hum Genet. 2001. PMID: 11555794 Free PMC article.

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