Schimmenti LA - Search Results

1

Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.

Schimmenti LA, Shim HH, Wirtschafter JD, Panzarino VA, Kashtan CE, Kirkpatrick SJ, Wargowski DS, France TD, Michel E, Dobyns WB. Schimmenti LA, et al. Hum Mutat. 1999;14(5):369-76. doi: 10.1002/(SICI)1098-1004(199911)14:5<369::AID-HUMU2>3.0.CO;2-E. Hum Mutat. 1999. PMID: 10533062

2

Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.

Schimmenti LA, Cunliffe HE, McNoe LA, Ward TA, French MC, Shim HH, Zhang YH, Proesmans W, Leys A, Byerly KA, Braddock SR, Masuno M, Imaizumi K, Devriendt K, Eccles MR. Schimmenti LA, et al. Am J Hum Genet. 1997 Apr;60(4):869-78. Am J Hum Genet. 1997. PMID: 9106533 Free PMC article.

3

Identification of two single nucleotide polymorphisms in exon 8 of PAX2.

Shim HH, Nakamura BN, Cantor RM, Schimmenti LA. Shim HH, et al. Among authors: schimmenti la. Mol Genet Metab. 1999 Dec;68(4):507-10. doi: 10.1006/mgme.1999.2931. Mol Genet Metab. 1999. PMID: 10607481

4

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

Schimmenti LA, Pierpont ME, Carpenter BL, Kashtan CE, Johnson MR, Dobyns WB. Schimmenti LA, et al. Am J Med Genet. 1995 Nov 6;59(2):204-8. doi: 10.1002/ajmg.1320590217. Am J Med Genet. 1995. PMID: 8588587

5

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

Sanyanusin P, Schimmenti LA, McNoe LA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR. Sanyanusin P, et al. Among authors: schimmenti la. Nat Genet. 1995 Apr;9(4):358-64. doi: 10.1038/ng0495-358. Nat Genet. 1995. PMID: 7795640

6

Identification of two novel polymorphisms (g.903C>T and g.1544C>T) in the PAX2 gene.

Gelb A, Manligas G, Gharaybeh S, Schimmenti L. Gelb A, et al. Hum Mutat. 2001 Feb;17(2):155. doi: 10.1002/1098-1004(200102)17:2<155::AID-HUMU16>3.0.CO;2-9. Hum Mutat. 2001. PMID: 11180607 No abstract available.

7

Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

Bower M, Salomon R, Allanson J, Antignac C, Benedicenti F, Benetti E, Binenbaum G, Jensen UB, Cochat P, DeCramer S, Dixon J, Drouin R, Falk MJ, Feret H, Gise R, Hunter A, Johnson K, Kumar R, Lavocat MP, Martin L, Morinière V, Mowat D, Murer L, Nguyen HT, Peretz-Amit G, Pierce E, Place E, Rodig N, Salerno A, Sastry S, Sato T, Sayer JA, Schaafsma GC, Shoemaker L, Stockton DW, Tan WH, Tenconi R, Vanhille P, Vats A, Wang X, Warman B, Weleber RG, White SM, Wilson-Brackett C, Zand DJ, Eccles M, Schimmenti LA, Heidet L. Bower M, et al. Among authors: schimmenti la. Hum Mutat. 2012 Mar;33(3):457-66. doi: 10.1002/humu.22020. Epub 2012 Jan 31. Hum Mutat. 2012. PMID: 22213154

8

Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome.

Schimmenti LA, Manligas GS, Sieving PA. Schimmenti LA, et al. Ophthalmic Genet. 2003 Dec;24(4):191-202. doi: 10.1076/opge.24.4.191.17229. Ophthalmic Genet. 2003. PMID: 14566649

9

Renal coloboma syndrome.

Schimmenti LA. Schimmenti LA. Eur J Hum Genet. 2011 Dec;19(12):1207-12. doi: 10.1038/ejhg.2011.102. Epub 2011 Jun 8. Eur J Hum Genet. 2011. PMID: 21654726 Free PMC article. Review.

10

Mutation of the gene in a family with optic nerve colobomas, renal anomolies and vesicoureteral reflux.

Sanyanusin P, Schimmenti LA, McNoe TA, Ward TA, Pierpont ME, Sullivan MJ, Dobyns WB, Eccles MR. Sanyanusin P, et al. Among authors: schimmenti la. Nat Genet. 1996 May;13(1):129. doi: 10.1038/ng0596-129. Nat Genet. 1996. PMID: 8673093 No abstract available.

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