274 related articles for article (PubMed ID: 20142850)
1. 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
Mol Vis; 2010 Feb; 16():137-43. PubMed ID: 20142850
[TBL] [Abstract][Full Text] [Related]
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
BMC Med Genet; 2016 Feb; 17():10. PubMed ID: 26846096
[TBL] [Abstract][Full Text] [Related]
3. 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
Eur J Hum Genet; 2006 Nov; 14(11):1195-203. PubMed ID: 16823392
[TBL] [Abstract][Full Text] [Related]
4. 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
Am J Hum Genet; 2005 Dec; 77(6):1021-33. PubMed ID: 16380913
[TBL] [Abstract][Full Text] [Related]
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
J Med Genet; 2010 Apr; 47(4):236-41. PubMed ID: 19858128
[TBL] [Abstract][Full Text] [Related]
6. Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.
Chandrasekar SP; Namboothiri S; Sen P; Sarangapani S
Indian J Med Res; 2018 Feb; 147(2):177-182. PubMed ID: 29806606
[TBL] [Abstract][Full Text] [Related]
7. 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
J Med Genet; 2010 Apr; 47(4):262-7. PubMed ID: 19797195
[TBL] [Abstract][Full Text] [Related]
8. Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
Muller J; Stoetzel C; Vincent MC; Leitch CC; Laurier V; Danse JM; Hellé S; Marion V; Bennouna-Greene V; Vicaire S; Megarbane A; Kaplan J; Drouin-Garraud V; Hamdani M; Sigaudy S; Francannet C; Roume J; Bitoun P; Goldenberg A; Philip N; Odent S; Green J; Cossée M; Davis EE; Katsanis N; Bonneau D; Verloes A; Poch O; Mandel JL; Dollfus H
Hum Genet; 2010 Mar; 127(5):583-93. PubMed ID: 20177705
[TBL] [Abstract][Full Text] [Related]
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
Hum Genet; 2011 Jan; 129(1):79-90. PubMed ID: 21052717
[TBL] [Abstract][Full Text] [Related]
10. Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.
Sathya Priya C; Sen P; Umashankar V; Gupta N; Kabra M; Kumaramanickavel G; Stoetzel C; Dollfus H; Sripriya S
Clin Genet; 2015 Feb; 87(2):161-6. PubMed ID: 24400638
[TBL] [Abstract][Full Text] [Related]
11. Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.
Fattahi Z; Rostami P; Najmabadi A; Mohseni M; Kahrizi K; Akbari MR; Kariminejad A; Najmabadi H
J Hum Genet; 2014 Jul; 59(7):368-75. PubMed ID: 24849935
[TBL] [Abstract][Full Text] [Related]
12. Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
Stoetzel C; Muller J; Laurier V; Davis EE; Zaghloul NA; Vicaire S; Jacquelin C; Plewniak F; Leitch CC; Sarda P; Hamel C; de Ravel TJ; Lewis RA; Friederich E; Thibault C; Danse JM; Verloes A; Bonneau D; Katsanis N; Poch O; Mandel JL; Dollfus H
Am J Hum Genet; 2007 Jan; 80(1):1-11. PubMed ID: 17160889
[TBL] [Abstract][Full Text] [Related]
13. 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
Nat Genet; 2000 Sep; 26(1):67-70. PubMed ID: 10973251
[TBL] [Abstract][Full Text] [Related]
14. Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.
White DR; Ganesh A; Nishimura D; Rattenberry E; Ahmed S; Smith UM; Pasha S; Raeburn S; Trembath RC; Rajab A; Macdonald F; Banin E; Stone EM; Johnson CA; Sheffield VC; Maher ER
Eur J Hum Genet; 2007 Feb; 15(2):173-8. PubMed ID: 17106446
[TBL] [Abstract][Full Text] [Related]
15. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Mykytyn K; Nishimura DY; Searby CC; Beck G; Bugge K; Haines HL; Cornier AS; Cox GF; Fulton AB; Carmi R; Iannaccone A; Jacobson SG; Weleber RG; Wright AF; Riise R; Hennekam RC; Lüleci G; Berker-Karauzum S; Biesecker LG; Stone EM; Sheffield VC
Am J Hum Genet; 2003 Feb; 72(2):429-37. PubMed ID: 12524598
[TBL] [Abstract][Full Text] [Related]
16. Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.
Khan S; Ullah I; Irfanullah ; Touseef M; Basit S; Khan MN; Ahmad W
Gene; 2013 Feb; 515(1):84-8. PubMed ID: 23219996
[TBL] [Abstract][Full Text] [Related]
17. Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.
Hichri H; Stoetzel C; Laurier V; Caron S; Sigaudy S; Sarda P; Hamel C; Martin-Coignard D; Gilles M; Leheup B; Holder M; Kaplan J; Bitoun P; Lacombe D; Verloes A; Bonneau D; Perrin-Schmitt F; Brandt C; Besancon AF; Mandel JL; Cossée M; Dollfus H
Eur J Hum Genet; 2005 May; 13(5):607-16. PubMed ID: 15770229
[TBL] [Abstract][Full Text] [Related]
18. Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).
Chiang AP; Nishimura D; Searby C; Elbedour K; Carmi R; Ferguson AL; Secrist J; Braun T; Casavant T; Stone EM; Sheffield VC
Am J Hum Genet; 2004 Sep; 75(3):475-84. PubMed ID: 15258860
[TBL] [Abstract][Full Text] [Related]
19. Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
Billingsley G; Bin J; Fieggen KJ; Duncan JL; Gerth C; Ogata K; Wodak SS; Traboulsi EI; Fishman GA; Paterson A; Chitayat D; Knueppel T; Millán JM; Mitchell GA; Deveault C; Héon E
J Med Genet; 2010 Jul; 47(7):453-63. PubMed ID: 20472660
[TBL] [Abstract][Full Text] [Related]
20. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Mykytyn K; Nishimura DY; Searby CC; Shastri M; Yen HJ; Beck JS; Braun T; Streb LM; Cornier AS; Cox GF; Fulton AB; Carmi R; Lüleci G; Chandrasekharappa SC; Collins FS; Jacobson SG; Heckenlively JR; Weleber RG; Stone EM; Sheffield VC
Nat Genet; 2002 Aug; 31(4):435-8. PubMed ID: 12118255
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
