Beales PL - Search Results

1

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.

Beales PL, Elcioglu N, Woolf AS, Parker D, Flinter FA. Beales PL, et al. J Med Genet. 1999 Jun;36(6):437-46. J Med Genet. 1999. PMID: 10874630 Free PMC article.

2

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA. Beales PL, et al. J Med Genet. 1997 Feb;34(2):92-8. doi: 10.1136/jmg.34.2.92. J Med Genet. 1997. PMID: 9039982 Free PMC article.

3

Chromosome 11q13 and atopic asthma.

Adra CN, Mao XQ, Kawada H, Gao PS, Korzycka B, Donate JL, Shaldon SR, Coull P, Dubowitz M, Enomoto T, Ozawa A, Syed SA, Horiuchi T, Khaeraja R, Khan R, Lin SR, Flinter F, Beales P, Hagihara A, Inoko H, Shirakawa T, Hopkin JM. Adra CN, et al. Clin Genet. 1999 Jun;55(6):431-7. doi: 10.1034/j.1399-0004.1999.550606.x. Clin Genet. 1999. PMID: 10450859

4

Human malformation syndromes: lessons in kidney differentiation.

Woolf AS, Beales PL, Feather SA. Woolf AS, et al. Among authors: beales pl. Adv Nephrol Necker Hosp. 1999;29:329-39. Adv Nephrol Necker Hosp. 1999. PMID: 10561754 Review. No abstract available.

5

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.

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

7

Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome.

Beales PL, Reid HA, Griffiths MH, Maher ER, Flinter FA, Woolf AS. Beales PL, et al. Nephrol Dial Transplant. 2000 Dec;15(12):1977-85. doi: 10.1093/ndt/15.12.1977. Nephrol Dial Transplant. 2000. PMID: 11096143

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. 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

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

10

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.

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