Katsanis N - Search Results

1

Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.

Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, Lupski JR. Katsanis N, et al. Clin Genet. 2001 Jun;59(6):424-9. doi: 10.1034/j.1399-0004.2001.590607.x. Clin Genet. 2001. PMID: 11453974

2

Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.

Eichers ER, Green JS, Stockton DW, Jackman CS, Whelan J, McNamara JA, Johnson GJ, Lupski JR, Katsanis N. Eichers ER, et al. Among authors: katsanis n. Am J Hum Genet. 2002 Apr;70(4):955-64. doi: 10.1086/339688. Epub 2002 Feb 26. Am J Hum Genet. 2002. PMID: 11868161 Free PMC article.

3

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.

Katsanis N, Lewis RA, Stockton DW, Mai PM, Baird L, Beales PL, Leppert M, Lupski JR. Katsanis N, et al. Am J Hum Genet. 1999 Dec;65(6):1672-9. doi: 10.1086/302684. Am J Hum Genet. 1999. PMID: 10577921 Free PMC article.

4

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

Katsanis N, Eichers ER, Ansley SJ, Lewis RA, Kayserili H, Hoskins BE, Scambler PJ, Beales PL, Lupski JR. Katsanis N, et al. Am J Hum Genet. 2002 Jul;71(1):22-9. doi: 10.1086/341031. Epub 2002 May 15. Am J Hum Genet. 2002. PMID: 12016587 Free PMC article.

5

Triallelic inheritance: a bridge between Mendelian and multifactorial traits.

Eichers ER, Lewis RA, Katsanis N, Lupski JR. Eichers ER, et al. Among authors: katsanis n. Ann Med. 2004;36(4):262-72. doi: 10.1080/07853890410026214. Ann Med. 2004. PMID: 15224652 Free article.

6

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome.

Katsanis N, Beales PL, Woods MO, Lewis RA, Green JS, Parfrey PS, Ansley SJ, Davidson WS, Lupski JR. Katsanis N, et al. Nat Genet. 2000 Sep;26(1):67-70. doi: 10.1038/79201. Nat Genet. 2000. PMID: 10973251

7

Isolation of a paralog of the Doyne honeycomb retinal dystrophy gene from the multiple retinopathy critical region on 11q13.

Katsanis N, Venable S, Smith JR, Lupski JR. Katsanis N, et al. Hum Genet. 2000 Jan;106(1):66-72. doi: 10.1007/s004390051011. Hum Genet. 2000. PMID: 10982184

8

Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.

Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS, Lupski JR. Beales PL, et al. Among authors: katsanis n. Am J Hum Genet. 2001 Mar;68(3):606-16. doi: 10.1086/318794. Epub 2001 Feb 1. Am J Hum Genet. 2001. PMID: 11179009 Free PMC article.

9

New polymorphic short tandem repeats for PCR-based Charcot-Marie-Tooth disease type 1A duplication diagnosis.

Badano JL, Inoue K, Katsanis N, Lupski JR. Badano JL, et al. Among authors: katsanis n. Clin Chem. 2001 May;47(5):838-43. Clin Chem. 2001. PMID: 11325886

10

An evaluation of the draft human genome sequence.

Katsanis N, Worley KC, Lupski JR. Katsanis N, et al. Nat Genet. 2001 Sep;29(1):88-91. doi: 10.1038/ng0901-88. Nat Genet. 2001. PMID: 11528399

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