Beales PL - Search Results

1

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: beales pl. Hum Mol Genet. 2003 Jul 15;12(14):1651-9. doi: 10.1093/hmg/ddg188. Hum Mol Genet. 2003. PMID: 12837689

2

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. Among authors: beales pl. Am J Hum Genet. 1999 Dec;65(6):1672-9. doi: 10.1086/302684. Am J Hum Genet. 1999. PMID: 10577921 Free PMC article.

3

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. Among authors: beales pl. Nat Genet. 2000 Sep;26(1):67-70. doi: 10.1038/79201. Nat Genet. 2000. PMID: 10973251

4

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. 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.

5

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

Katsanis N, Ansley SJ, Badano JL, Eichers ER, Lewis RA, Hoskins BE, Scambler PJ, Davidson WS, Beales PL, Lupski JR. Katsanis N, et al. Among authors: beales pl. Science. 2001 Sep 21;293(5538):2256-9. doi: 10.1126/science.1063525. Science. 2001. PMID: 11567139

6

Exploring the molecular basis of Bardet-Biedl syndrome.

Katsanis N, Lupski JR, Beales PL. Katsanis N, et al. Among authors: beales pl. Hum Mol Genet. 2001 Oct 1;10(20):2293-9. doi: 10.1093/hmg/10.20.2293. Hum Mol Genet. 2001. PMID: 11673413 Review.

7

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. Among authors: beales pl. 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.

8

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. 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.

9

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique.

Hoskins BE, Thorn A, Scambler PJ, Beales PL. Hoskins BE, et al. Among authors: beales pl. Hum Mutat. 2003 Aug;22(2):151-7. doi: 10.1002/humu.10241. Hum Mutat. 2003. PMID: 12872256

10

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.

Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N. Ansley SJ, et al. Among authors: beales pl. Nature. 2003 Oct 9;425(6958):628-33. doi: 10.1038/nature02030. Epub 2003 Sep 21. Nature. 2003. PMID: 14520415

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