Beales PL - Search Results

1

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.

Schmidts M, Arts HH, Bongers EM, Yap Z, Oud MM, Antony D, Duijkers L, Emes RD, Stalker J, Yntema JB, Plagnol V, Hoischen A, Gilissen C, Forsythe E, Lausch E, Veltman JA, Roeleveld N, Superti-Furga A, Kutkowska-Kazmierczak A, Kamsteeg EJ, Elçioğlu N, van Maarle MC, Graul-Neumann LM, Devriendt K, Smithson SF, Wellesley D, Verbeek NE, Hennekam RC, Kayserili H, Scambler PJ, Beales PL; UK10K; Knoers NV, Roepman R, Mitchison HM. Schmidts M, et al. Among authors: beales pl. J Med Genet. 2013 May;50(5):309-23. doi: 10.1136/jmedgenet-2012-101284. Epub 2013 Mar 1. J Med Genet. 2013. PMID: 23456818 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

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.

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

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.

6

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.

7

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

8

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy.

Beales PL, Bland E, Tobin JL, Bacchelli C, Tuysuz B, Hill J, Rix S, Pearson CG, Kai M, Hartley J, Johnson C, Irving M, Elcioglu N, Winey M, Tada M, Scambler PJ. Beales PL, et al. Nat Genet. 2007 Jun;39(6):727-9. doi: 10.1038/ng2038. Epub 2007 Apr 29. Nat Genet. 2007. PMID: 17468754

9

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.

Harville HM, Held S, Diaz-Font A, Davis EE, Diplas BH, Lewis RA, Borochowitz ZU, Zhou W, Chaki M, MacDonald J, Kayserili H, Beales PL, Katsanis N, Otto E, Hildebrandt F. Harville HM, et al. Among authors: beales pl. J Med Genet. 2010 Apr;47(4):262-7. doi: 10.1136/jmg.2009.071365. Epub 2009 Sep 24. J Med Genet. 2010. PMID: 19797195 Free PMC article.

10

An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia.

Rix S, Calmont A, Scambler PJ, Beales PL. Rix S, et al. Among authors: beales pl. Hum Mol Genet. 2011 Apr 1;20(7):1306-14. doi: 10.1093/hmg/ddr013. Epub 2011 Jan 12. Hum Mol Genet. 2011. PMID: 21227999 Free PMC article.

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