Similar articles for PMID: 19797195

Year	Number of Results
1994	1
1997	1
1999	4
2000	2
2001	4
2002	3
2003	5
2004	4
2005	4
2006	6
2007	3
2008	2
2009	2
2010	7
2011	6
2012	7
2013	8
2014	10
2015	6
2016	9
2017	2
2018	4
2019	7
2020	5
2021	5
2022	1
2023	2
2024	0

1

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. 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.

2

Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome.

Khan MA, Mohan S, Zubair M, Windpassinger C. Khan MA, et al. BMC Med Genet. 2016 Feb 4;17:10. doi: 10.1186/s12881-016-0271-9. BMC Med Genet. 2016. PMID: 26846096 Free PMC article.

3

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. 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.

4

New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.

Pereiro I, Valverde D, Piñeiro-Gallego T, Baiget M, Borrego S, Ayuso C, Searby C, Nishimura D. Pereiro I, et al. Mol Vis. 2010 Feb 1;16:137-43. Mol Vis. 2010. PMID: 20142850 Free PMC article.

5

Clinical and molecular characterisation of Bardet-Biedl syndrome in consanguineous populations: the power of homozygosity mapping.

Abu Safieh L, Aldahmesh MA, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, Al Hazzaa SA, Al-Rajhi A, Alkuraya FS. Abu Safieh L, et al. J Med Genet. 2010 Apr;47(4):236-41. doi: 10.1136/jmg.2009.070755. Epub 2009 Oct 26. J Med Genet. 2010. PMID: 19858128

6

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

Nishimura DY, Swiderski RE, Searby CC, Berg EM, Ferguson AL, Hennekam R, Merin S, Weleber RG, Biesecker LG, Stone EM, Sheffield VC. Nishimura DY, et al. Am J Hum Genet. 2005 Dec;77(6):1021-33. doi: 10.1086/498323. Epub 2005 Oct 26. Am J Hum Genet. 2005. PMID: 16380913 Free PMC article.

7

Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism.

Laurier V, Stoetzel C, Muller J, Thibault C, Corbani S, Jalkh N, Salem N, Chouery E, Poch O, Licaire S, Danse JM, Amati-Bonneau P, Bonneau D, Mégarbané A, Mandel JL, Dollfus H. Laurier V, et al. Eur J Hum Genet. 2006 Nov;14(11):1195-203. doi: 10.1038/sj.ejhg.5201688. Epub 2006 Jul 5. Eur J Hum Genet. 2006. PMID: 16823392

8

Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.

Chandrasekar SP, Namboothiri S, Sen P, Sarangapani S. Chandrasekar SP, et al. Indian J Med Res. 2018 Feb;147(2):177-182. doi: 10.4103/ijmr.IJMR_1822_15. Indian J Med Res. 2018. PMID: 29806606 Free PMC article.

9

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

10

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent MC, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel JL, Muller J. Redin C, et al. J Med Genet. 2012 Aug;49(8):502-12. doi: 10.1136/jmedgenet-2012-100875. Epub 2012 Jul 7. J Med Genet. 2012. PMID: 22773737 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Results by year

Text availability

Article attribute

Article type

Publication date

101 results

Results by year