225 related articles for article (PubMed ID: 21642631)
1. Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
Chen J; Smaoui N; Hammer MB; Jiao X; Riazuddin SA; Harper S; Katsanis N; Riazuddin S; Chaabouni H; Berson EL; Hejtmancik JF
Invest Ophthalmol Vis Sci; 2011 Jul; 52(8):5317-24. PubMed ID: 21642631
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing.
Aliferis K; Hellé S; Gyapay G; Duchatelet S; Stoetzel C; Mandel JL; Dollfus H
Ophthalmic Genet; 2012 Mar; 33(1):18-22. PubMed ID: 22004009
[TBL] [Abstract][Full Text] [Related]
5. 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]
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. 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
J Med Genet; 2012 Aug; 49(8):502-12. PubMed ID: 22773737
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome.
Li Q; Zhang Y; Jia L; Peng X
Chin Med J (Engl); 2014; 127(24):4190-6. PubMed ID: 25533820
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.
Maria M; Lamers IJ; Schmidts M; Ajmal M; Jaffar S; Ullah E; Mustafa B; Ahmad S; Nazmutdinova K; Hoskins B; van Wijk E; Koster-Kamphuis L; Khan MI; Beales PL; Cremers FP; Roepman R; Azam M; Arts HH; Qamar R
Sci Rep; 2016 Oct; 6():34764. PubMed ID: 27708425
[TBL] [Abstract][Full Text] [Related]
14. A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet-Biedl syndrome.
Bahmanpour Z; Daneshmandpour Y; Kazeminasab S; Khalil Khalili S; Alehabib E; Chapi M; Soosanabadi M; Darvish H; Emamalizadeh B
Int Ophthalmol; 2021 Feb; 41(2):389-397. PubMed ID: 32926352
[TBL] [Abstract][Full Text] [Related]
15. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients.
Slavotinek AM; Searby C; Al-Gazali L; Hennekam RC; Schrander-Stumpel C; Orcana-Losa M; Pardo-Reoyo S; Cantani A; Kumar D; Capellini Q; Neri G; Zackai E; Biesecker LG
Hum Genet; 2002 Jun; 110(6):561-7. PubMed ID: 12107442
[TBL] [Abstract][Full Text] [Related]
16. Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families.
Ullah A; Umair M; Yousaf M; Khan SA; Nazim-Ud-Din M; Shah K; Ahmad F; Azeem Z; Ali G; Alhaddad B; Rafique A; Jan A; Haack TB; Strom TM; Meitinger T; Ghous T; Ahmad W
Mol Vis; 2017; 23():482-494. PubMed ID: 28761321
[TBL] [Abstract][Full Text] [Related]
17. 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]
18. Mutation profile of BBS genes in patients with Bardet-Biedl syndrome: an Italian study.
Manara E; Paolacci S; D'Esposito F; Abeshi A; Ziccardi L; Falsini B; Colombo L; Iarossi G; Pilotta A; Boccone L; Guerri G; Monica M; Marta B; Maltese PE; Buzzonetti L; Rossetti L; Bertelli M
Ital J Pediatr; 2019 Jun; 45(1):72. PubMed ID: 31196119
[TBL] [Abstract][Full Text] [Related]
19. Exome sequence analysis in consanguineous Pakistani families inheriting Bardet-Biedle syndrome determined founder effect of mutation c.299delC (p.Ser100Leufs*24) in BBS9 gene.
Muzammal M; Zubair M; Bierbaumer S; Blatterer J; Graf R; Gul A; Abbas S; Badar M; Abbasi AA; Khan MA; Windpassinger C
Mol Genet Genomic Med; 2019 Aug; 7(8):e834. PubMed ID: 31294530
[TBL] [Abstract][Full Text] [Related]
20. Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations.
Kurata K; Hosono K; Hikoya A; Kato A; Saitsu H; Minoshima S; Ogata T; Hotta Y
Jpn J Ophthalmol; 2018 Jul; 62(4):458-466. PubMed ID: 29666954
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]