261 related articles for article (PubMed ID: 24849935)
1. 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]
2. Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.
Ece Solmaz A; Onay H; Atik T; Aykut A; Cerrah Gunes M; Ozalp Yuregir O; Bas VN; Hazan F; Kirbiyik O; Ozkinay F
Eur J Med Genet; 2015 Dec; 58(12):689-94. PubMed ID: 26518167
[TBL] [Abstract][Full Text] [Related]
3. Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
Hjortshøj TD; Grønskov K; Philp AR; Nishimura DY; Riise R; Sheffield VC; Rosenberg T; Brøndum-Nielsen K
Hum Mutat; 2010 Apr; 31(4):429-36. PubMed ID: 20120035
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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
Am J Hum Genet; 2003 May; 72(5):1187-99. PubMed ID: 12677556
[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. 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]
8. 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]
9. Genotype-phenotype correlations in Bardet-Biedl syndrome.
Daniels AB; Sandberg MA; Chen J; Weigel-DiFranco C; Fielding Hejtmancic J; Berson EL
Arch Ophthalmol; 2012 Jul; 130(7):901-7. PubMed ID: 22410627
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.
Esposito G; Testa F; Zacchia M; Crispo AA; Di Iorio V; Capolongo G; Rinaldi L; D'Antonio M; Fioretti T; Iadicicco P; Rossi S; Franzè A; Marciano E; Capasso G; Simonelli F; Salvatore F
BMC Med Genet; 2017 Feb; 18(1):10. PubMed ID: 28143435
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
Badano JL; Ansley SJ; Leitch CC; Lewis RA; Lupski JR; Katsanis N
Am J Hum Genet; 2003 Mar; 72(3):650-8. PubMed ID: 12567324
[TBL] [Abstract][Full Text] [Related]
14. Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
M'hamdi O; Redin C; Stoetzel C; Ouertani I; Chaabouni M; Maazoul F; M'rad R; Mandel JL; Dollfus H; Muller J; Chaabouni H
Clin Genet; 2014 Feb; 85(2):172-7. PubMed ID: 23432027
[TBL] [Abstract][Full Text] [Related]
15. 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
Am J Hum Genet; 2002 Jul; 71(1):22-9. PubMed ID: 12016587
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families.
Castro-Sánchez S; Álvarez-Satta M; Cortón M; Guillén E; Ayuso C; Valverde D
J Med Genet; 2015 Aug; 52(8):503-13. PubMed ID: 26082521
[TBL] [Abstract][Full Text] [Related]
19. Exome sequencing in a Romanian Bardet-Biedl syndrome cohort revealed an overabundance of causal BBS12 variants.
Khan S; Focșa IO; Budișteanu M; Stoica C; Nedelea F; Bohîlțea L; Caba L; Butnariu L; Pânzaru M; Rusu C; Jurcă C; Chirita-Emandi A; Bănescu C; Abbas W; Sadeghpour A; Baig SM; Bălgrădean M; Davis EE
Am J Med Genet A; 2023 Sep; 191(9):2376-2391. PubMed ID: 37293956
[TBL] [Abstract][Full Text] [Related]
20. BBS mutational analysis: a strategic approach.
Billingsley G; Deveault C; Héon E
Ophthalmic Genet; 2011 Sep; 32(3):181-7. PubMed ID: 21463199
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
