Swiderski RE - Search Results

1

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.

Stone EM, Lotery AJ, Munier FL, Héon E, Piguet B, Guymer RH, Vandenburgh K, Cousin P, Nishimura D, Swiderski RE, Silvestri G, Mackey DA, Hageman GS, Bird AC, Sheffield VC, Schorderet DF. Stone EM, et al. Among authors: swiderski re. Nat Genet. 1999 Jun;22(2):199-202. doi: 10.1038/9722. Nat Genet. 1999. PMID: 10369267

2

Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a disorder of retinal cell fate.

Haider NB, Jacobson SG, Cideciyan AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC. Haider NB, et al. Nat Genet. 2000 Feb;24(2):127-31. doi: 10.1038/72777. Nat Genet. 2000. PMID: 10655056

3

The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25.

Nishimura DY, Swiderski RE, Alward WL, Searby CC, Patil SR, Bennet SR, Kanis AB, Gastier JM, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: swiderski re. Nat Genet. 1998 Jun;19(2):140-7. doi: 10.1038/493. Nat Genet. 1998. PMID: 9620769

4

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: swiderski re. Am J Hum Genet. 2005 Dec;77(6):1021-33. doi: 10.1086/498323. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380913 Free PMC article.

5

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: swiderski re. Hum Mol Genet. 2001 Apr 1;10(8):865-74. doi: 10.1093/hmg/10.8.865. Hum Mol Genet. 2001. PMID: 11285252

6

Characterization and comparison of the human and mouse GLC1A glaucoma genes.

Fingert JH, Ying L, Swiderski RE, Nystuen AM, Arbour NC, Alward WL, Sheffield VC, Stone EM. Fingert JH, et al. Among authors: swiderski re. Genome Res. 1998 Apr;8(4):377-84. doi: 10.1101/gr.8.4.377. Genome Res. 1998. PMID: 9548973 Free PMC article.

7

A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene.

Honkanen RA, Nishimura DY, Swiderski RE, Bennett SR, Hong S, Kwon YH, Stone EM, Sheffield VC, Alward WL. Honkanen RA, et al. Among authors: swiderski re. Am J Ophthalmol. 2003 Mar;135(3):368-75. doi: 10.1016/s0002-9394(02)02061-5. Am J Ophthalmol. 2003. PMID: 12614756

8

Expression of the Mf1 gene in developing mouse hearts: implication in the development of human congenital heart defects.

Swiderski RE, Reiter RS, Nishimura DY, Alward WL, Kalenak JW, Searby CS, Stone EM, Sheffield VC, Lin JJ. Swiderski RE, et al. Dev Dyn. 1999 Sep;216(1):16-27. doi: 10.1002/(SICI)1097-0177(199909)216:1<16::AID-DVDY4>3.0.CO;2-1. Dev Dyn. 1999. PMID: 10474162 Free article.

9

Evidence supporting WNT2 as an autism susceptibility gene.

Wassink TH, Piven J, Vieland VJ, Huang J, Swiderski RE, Pietila J, Braun T, Beck G, Folstein SE, Haines JL, Sheffield VC. Wassink TH, et al. Among authors: swiderski re. Am J Med Genet. 2001 Jul 8;105(5):406-13. doi: 10.1002/ajmg.1401. Am J Med Genet. 2001. PMID: 11449391

10

Expression pattern and in situ localization of the mouse homologue of the human MYOC (GLC1A) gene in adult brain.

Swiderski RE, Ying L, Cassell MD, Alward WL, Stone EM, Sheffield VC. Swiderski RE, et al. Brain Res Mol Brain Res. 1999 May 7;68(1-2):64-72. doi: 10.1016/s0169-328x(99)00085-6. Brain Res Mol Brain Res. 1999. PMID: 10320784

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