537 related articles for article (PubMed ID: 18327255)
1. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
Leitch CC; Zaghloul NA; Davis EE; Stoetzel C; Diaz-Font A; Rix S; Alfadhel M; Lewis RA; Eyaid W; Banin E; Dollfus H; Beales PL; Badano JL; Katsanis N
Nat Genet; 2008 Apr; 40(4):443-8. PubMed ID: 18327255
[TBL] [Abstract][Full Text] [Related]
2. Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
Frank V; den Hollander AI; Brüchle NO; Zonneveld MN; Nürnberg G; Becker C; Du Bois G; Kendziorra H; Roosing S; Senderek J; Nürnberg P; Cremers FP; Zerres K; Bergmann C
Hum Mutat; 2008 Jan; 29(1):45-52. PubMed ID: 17705300
[TBL] [Abstract][Full Text] [Related]
3. Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome.
Lindstrand A; Davis EE; Carvalho CM; Pehlivan D; Willer JR; Tsai IC; Ramanathan S; Zuppan C; Sabo A; Muzny D; Gibbs R; Liu P; Lewis RA; Banin E; Lupski JR; Clark R; Katsanis N
Am J Hum Genet; 2014 May; 94(5):745-54. PubMed ID: 24746959
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
Lindstrand A; Frangakis S; Carvalho CM; Richardson EB; McFadden KA; Willer JR; Pehlivan D; Liu P; Pediaditakis IL; Sabo A; Lewis RA; Banin E; Lupski JR; Davis EE; Katsanis N
Am J Hum Genet; 2016 Aug; 99(2):318-36. PubMed ID: 27486776
[TBL] [Abstract][Full Text] [Related]
6. BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
Zhang Y; Seo S; Bhattarai S; Bugge K; Searby CC; Zhang Q; Drack AV; Stone EM; Sheffield VC
Hum Mol Genet; 2014 Jan; 23(1):40-51. PubMed ID: 23943788
[TBL] [Abstract][Full Text] [Related]
7. Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.
Karmous-Benailly H; Martinovic J; Gubler MC; Sirot Y; Clech L; Ozilou C; Auge J; Brahimi N; Etchevers H; Detrait E; Esculpavit C; Audollent S; Goudefroye G; Gonzales M; Tantau J; Loget P; Joubert M; Gaillard D; Jeanne-Pasquier C; Delezoide AL; Peter MO; Plessis G; Simon-Bouy B; Dollfus H; Le Merrer M; Munnich A; Encha-Razavi F; Vekemans M; Attié-Bitach T
Am J Hum Genet; 2005 Mar; 76(3):493-504. PubMed ID: 15666242
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.
Baye LM; Patrinostro X; Swaminathan S; Beck JS; Zhang Y; Stone EM; Sheffield VC; Slusarski DC
Hum Mol Genet; 2011 Apr; 20(8):1467-77. PubMed ID: 21257638
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.
Knopp C; Rudnik-Schöneborn S; Eggermann T; Bergmann C; Begemann M; Schoner K; Zerres K; Ortiz Brüchle N
Mol Cell Probes; 2015 Oct; 29(5):299-307. PubMed ID: 26003401
[TBL] [Abstract][Full Text] [Related]
12. Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
Frank V; Ortiz Brüchle N; Mager S; Frints SG; Bohring A; du Bois G; Debatin I; Seidel H; Senderek J; Besbas N; Todt U; Kubisch C; Grimm T; Teksen F; Balci S; Zerres K; Bergmann C
Hum Mutat; 2007 Jun; 28(6):638-9. PubMed ID: 17437276
[TBL] [Abstract][Full Text] [Related]
13. Apparent but unconfirmed digenism in an Iranian consanguineous family with syndromic Retinal Disease.
Beigi F; Del Pozo-Valero M; Martin-Merida I; Perea-Romero I; Manaviat MR; Ayuso C; Ghasemi N
Exp Eye Res; 2021 Jun; 207():108533. PubMed ID: 33741323
[TBL] [Abstract][Full Text] [Related]
14. Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
Rachel RA; May-Simera HL; Veleri S; Gotoh N; Choi BY; Murga-Zamalloa C; McIntyre JC; Marek J; Lopez I; Hackett AN; Zhang J; Brooks M; den Hollander AI; Beales PL; Li T; Jacobson SG; Sood R; Martens JR; Liu P; Friedman TB; Khanna H; Koenekoop RK; Kelley MW; Swaroop A
J Clin Invest; 2012 Apr; 122(4):1233-45. PubMed ID: 22446187
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. 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]
17. Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
Consugar MB; Kubly VJ; Lager DJ; Hommerding CJ; Wong WC; Bakker E; Gattone VH; Torres VE; Breuning MH; Harris PC
Hum Genet; 2007 Jun; 121(5):591-9. PubMed ID: 17377820
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. 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]
[Next] [New Search]