Katsanis N - Search Results

1

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.

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

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.

4

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

Badano JL, Ansley SJ, Leitch CC, Lewis RA, Lupski JR, Katsanis N. Badano JL, et al. Among authors: katsanis n. Am J Hum Genet. 2003 Mar;72(3):650-8. doi: 10.1086/368204. Epub 2003 Feb 3. Am J Hum Genet. 2003. PMID: 12567324 Free PMC article.

5

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N. Beales PL, et al. Among authors: katsanis n. Am J Hum Genet. 2003 May;72(5):1187-99. doi: 10.1086/375178. Epub 2003 Apr 3. Am J Hum Genet. 2003. PMID: 12677556 Free PMC article.

6

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

Badano JL, Kim JC, Hoskins BE, Lewis RA, Ansley SJ, Cutler DJ, Castellan C, Beales PL, Leroux MR, Katsanis N. Badano JL, et al. Among authors: katsanis n. Hum Mol Genet. 2003 Jul 15;12(14):1651-9. doi: 10.1093/hmg/ddg188. Hum Mol Genet. 2003. PMID: 12837689

7

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

Fan Y, Esmail MA, Ansley SJ, Blacque OE, Boroevich K, Ross AJ, Moore SJ, Badano JL, May-Simera H, Compton DS, Green JS, Lewis RA, van Haelst MM, Parfrey PS, Baillie DL, Beales PL, Katsanis N, Davidson WS, Leroux MR. Fan Y, et al. Among authors: katsanis n. Nat Genet. 2004 Sep;36(9):989-93. doi: 10.1038/ng1414. Epub 2004 Aug 15. Nat Genet. 2004. PMID: 15314642

8

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity.

Eichers ER, Abd-El-Barr MM, Paylor R, Lewis RA, Bi W, Lin X, Meehan TP, Stockton DW, Wu SM, Lindsay E, Justice MJ, Beales PL, Katsanis N, Lupski JR. Eichers ER, et al. Among authors: katsanis n. Hum Genet. 2006 Sep;120(2):211-26. doi: 10.1007/s00439-006-0197-y. Epub 2006 Jun 23. Hum Genet. 2006. PMID: 16794820

9

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Janssen S, Ramaswami G, Davis EE, Hurd T, Airik R, Kasanuki JM, Van Der Kraak L, Allen SJ, Beales PL, Katsanis N, Otto EA, Hildebrandt F. Janssen S, et al. Among authors: katsanis n. Hum Genet. 2011 Jan;129(1):79-90. doi: 10.1007/s00439-010-0902-8. Epub 2010 Oct 30. Hum Genet. 2011. PMID: 21052717 Free PMC article.

10

Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.

Lindstrand A, Davis EE, Carvalho CM, Pehlivan D, Willer JR, Tsai IC, Ramanathan S, Zuppan C, Sabo A, Muzny D, Gibbs R, Liu P, Lewis RA, Banin E, Lupski JR, Clark R, Katsanis N. Lindstrand A, et al. Among authors: katsanis n. Am J Hum Genet. 2014 May 1;94(5):745-54. doi: 10.1016/j.ajhg.2014.03.017. Epub 2014 Apr 17. Am J Hum Genet. 2014. PMID: 24746959 Free PMC article.

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