AR44702/AR/NIAMS NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
1998	2
1999	1
2000	2
2001	2
2002	1
2003	1
2004	1
2005	1
2010	1
2011	1
2024	0

1

Nail patella syndrome: a review of the phenotype aided by developmental biology.

Sweeney E, Fryer A, Mountford R, Green A, McIntosh I. Sweeney E, et al. J Med Genet. 2003 Mar;40(3):153-62. doi: 10.1136/jmg.40.3.153. J Med Genet. 2003. PMID: 12624132 Free PMC article.

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. 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

Increased symptoms of attention deficit hyperactivity disorder and major depressive disorder symptoms in Nail-patella syndrome: potential association with LMX1B loss-of-function.

López-Arvizu C, Sparrow EP, Strube MJ, Slavin C, DeOleo C, James J, Hoover-Fong J, McIntosh I, Tierney E. López-Arvizu C, et al. Am J Med Genet B Neuropsychiatr Genet. 2011 Jan;156B(1):59-66. doi: 10.1002/ajmg.b.31138. Epub 2010 Nov 2. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21184584 Free PMC article.

6

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

7

Delayed membranous ossification of the cranium associated with familial translocation (2;3)(p15;q12).

Cargile CB, McIntosh I, Clough MV, Rutberg J, Yaghmai R, Goodman BK, Chen XN, Korenberg JR, Thomas GH, Geraghty MT. Cargile CB, et al. Am J Med Genet. 2000 Jun 19;92(5):328-35. doi: 10.1002/1096-8628(20000619)92:5<328::aid-ajmg7>3.0.co;2-p. Am J Med Genet. 2000. PMID: 10861662

8

Association of human aging with a functional variant of klotho.

Arking DE, Krebsova A, Macek M Sr, Macek M Jr, Arking A, Mian IS, Fried L, Hamosh A, Dey S, McIntosh I, Dietz HC. Arking DE, et al. Proc Natl Acad Sci U S A. 2002 Jan 22;99(2):856-61. doi: 10.1073/pnas.022484299. Epub 2002 Jan 15. Proc Natl Acad Sci U S A. 2002. PMID: 11792841 Free PMC article.

9

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. 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.

10

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

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