556 related articles for article (PubMed ID: 10973251)
21. Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
Schaefer E; Durand M; Stoetzel C; Doray B; Viville B; Hellé S; Danse JM; Hamel C; Bitoun P; Goldenberg A; Finck S; Faivre L; Sigaudy S; Holder M; Vincent MC; Marion V; Bonneau D; Verloes A; Nisand I; Mandel JL; Dollfus H
Eur J Med Genet; 2011; 54(2):157-60. PubMed ID: 21044901
[TBL] [Abstract][Full Text] [Related]
22. The oligogenic properties of Bardet-Biedl syndrome.
Katsanis N
Hum Mol Genet; 2004 Apr; 13 Spec No 1():R65-71. PubMed ID: 14976158
[TBL] [Abstract][Full Text] [Related]
23. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.
Beales PL; Elcioglu N; Woolf AS; Parker D; Flinter FA
J Med Genet; 1999 Jun; 36(6):437-46. PubMed ID: 10874630
[TBL] [Abstract][Full Text] [Related]
24. MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesis.
Kim JC; Ou YY; Badano JL; Esmail MA; Leitch CC; Fiedrich E; Beales PL; Archibald JM; Katsanis N; Rattner JB; Leroux MR
J Cell Sci; 2005 Mar; 118(Pt 5):1007-20. PubMed ID: 15731008
[TBL] [Abstract][Full Text] [Related]
25. BBS10 mutations are common in 'Meckel'-type cystic kidneys.
Putoux A; Mougou-Zerelli S; Thomas S; Elkhartoufi N; Audollent S; Le Merrer M; Lachmeijer A; Sigaudy S; Buenerd A; Fernandez C; Delezoide AL; Gubler MC; Salomon R; Saad A; Cordier MP; Vekemans M; Bouvier R; Attie-Bitach T
J Med Genet; 2010 Dec; 47(12):848-52. PubMed ID: 20805367
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. 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]
28. Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.
Katsanis N; Lewis RA; Stockton DW; Mai PM; Baird L; Beales PL; Leppert M; Lupski JR
Am J Hum Genet; 1999 Dec; 65(6):1672-9. PubMed ID: 10577921
[TBL] [Abstract][Full Text] [Related]
29. Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.
Carmi R; Elbedour K; Stone EM; Sheffield VC
Am J Med Genet; 1995 Nov; 59(2):199-203. PubMed ID: 8588586
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes.
David A; Bitoun P; Lacombe D; Lambert JC; Nivelon A; Vigneron J; Verloes A
J Med Genet; 1999 Aug; 36(8):599-603. PubMed ID: 10465109
[TBL] [Abstract][Full Text] [Related]
32. BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
Bin J; Madhavan J; Ferrini W; Mok CA; Billingsley G; Héon E
Hum Mutat; 2009 Jul; 30(7):E737-46. PubMed ID: 19402160
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. The molecular genetics of Bardet-Biedl syndrome.
Sheffield VC; Nishimura D; Stone EM
Curr Opin Genet Dev; 2001 Jun; 11(3):317-21. PubMed ID: 11377969
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM.
Young TL; Woods MO; Parfrey PS; Green JS; Hefferton D; Davidson WS
Am J Hum Genet; 1999 Dec; 65(6):1680-7. PubMed ID: 10577922
[TBL] [Abstract][Full Text] [Related]
37. Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population.
Fan Y; Rahman P; Peddle L; Hefferton D; Gladney N; Moore SJ; Green JS; Parfrey PS; Davidson WS
Int J Obes Relat Metab Disord; 2004 May; 28(5):680-4. PubMed ID: 14993910
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.
Marion V; Stutzmann F; Gérard M; De Melo C; Schaefer E; Claussmann A; Hellé S; Delague V; Souied E; Barrey C; Verloes A; Stoetzel C; Dollfus H
J Med Genet; 2012 May; 49(5):317-21. PubMed ID: 22510444
[TBL] [Abstract][Full Text] [Related]
40. Bardet-biedl syndrome and brain abnormalities.
Rooryck C; Pelras S; Chateil JF; Cances C; Arveiler B; Verloes A; Lacombe D; Goizet C
Neuropediatrics; 2007 Feb; 38(1):5-9. PubMed ID: 17607597
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
