Searby CC - Search Results

1

Mice defective in Trpm6 show embryonic mortality and neural tube defects.

Walder RY, Yang B, Stokes JB, Kirby PA, Cao X, Shi P, Searby CC, Husted RF, Sheffield VC. Walder RY, et al. Among authors: searby cc. Hum Mol Genet. 2009 Nov 15;18(22):4367-75. doi: 10.1093/hmg/ddp392. Epub 2009 Aug 18. Hum Mol Genet. 2009. PMID: 19692351 Free PMC article.

2

Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

Ionasescu V, Searby C, Sheffield VC, Roklina T, Nishimura D, Ionasescu R. Ionasescu V, et al. Hum Mol Genet. 1996 Sep;5(9):1373-5. doi: 10.1093/hmg/5.9.1373. Hum Mol Genet. 1996. PMID: 8872480

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: searby cc. Nat Genet. 1998 Jun;19(2):140-7. doi: 10.1038/493. Nat Genet. 1998. PMID: 9620769

4

Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl syndrome 1 (BBS1).

Haider NB, Searby C, Galperin E, Mintz L, Horowitz M, Stone EM, Sheffield VC. Haider NB, et al. Gene. 1999 Nov 15;240(1):227-32. doi: 10.1016/s0378-1119(99)00395-9. Gene. 1999. PMID: 10564830

5

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

6

Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor.

Jacobson N, Andrews M, Shepard AR, Nishimura D, Searby C, Fingert JH, Hageman G, Mullins R, Davidson BL, Kwon YH, Alward WL, Stone EM, Clark AF, Sheffield VC. Jacobson N, et al. Hum Mol Genet. 2001 Jan 15;10(2):117-25. doi: 10.1093/hmg/10.2.117. Hum Mol Genet. 2001. PMID: 11152659

7

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.

Nishimura DY, Searby CC, Alward WL, Walton D, Craig JE, Mackey DA, Kawase K, Kanis AB, Patil SR, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: searby cc. Am J Hum Genet. 2001 Feb;68(2):364-72. doi: 10.1086/318183. Epub 2001 Jan 18. Am J Hum Genet. 2001. PMID: 11170889 Free PMC article.

8

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: searby cc. Hum Mol Genet. 2001 Apr 1;10(8):865-74. doi: 10.1093/hmg/10.8.865. Hum Mol Genet. 2001. PMID: 11285252

9

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, Jacobson SG, Casavant T, Stone EM, Sheffield VC. Mykytyn K, et al. Among authors: searby cc. Nat Genet. 2001 Jun;28(2):188-91. doi: 10.1038/88925. Nat Genet. 2001. PMID: 11381270

10

Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Lüleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC. Mykytyn K, et al. Among authors: searby cc. Nat Genet. 2002 Aug;31(4):435-8. doi: 10.1038/ng935. Epub 2002 Jul 15. Nat Genet. 2002. PMID: 12118255

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