Schimmenti L - Search Results

1

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. Among authors: schimmenti l. 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.

2

Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia.

Schimmenti LA, de la Cruz J, Lewis RA, Karkera JD, Manligas GS, Roessler E, Muenke M. Schimmenti LA, et al. Am J Med Genet A. 2003 Jan 30;116A(3):215-21. doi: 10.1002/ajmg.a.10884. Am J Med Genet A. 2003. PMID: 12503095

3

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

4

Renal-coloboma syndrome: report of a novel PAX2 gene mutation.

Chung GW, Edwards AO, Schimmenti LA, Manligas GS, Zhang YH, Ritter R 3rd. Chung GW, et al. Among authors: schimmenti la. Am J Ophthalmol. 2001 Dec;132(6):910-4. doi: 10.1016/s0002-9394(01)01231-4. Am J Ophthalmol. 2001. PMID: 11730657

5

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

6

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

7

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.

8

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

9

Clinical utility gene card for: renal coloboma (Papillorenal) syndrome.

Bower M, Eccles M, Heidet L, Schimmenti LA. Bower M, et al. Among authors: schimmenti la. Eur J Hum Genet. 2011 Sep;19(9). doi: 10.1038/ejhg.2011.16. Epub 2011 Feb 16. Eur J Hum Genet. 2011. PMID: 21326282 Free PMC article. No abstract available.

10

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.

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