178 related articles for article (PubMed ID: 21157496)
21. Alström syndrome: insights into the pathogenesis of metabolic disorders.
Girard D; Petrovsky N
Nat Rev Endocrinol; 2011 Feb; 7(2):77-88. PubMed ID: 21135875
[TBL] [Abstract][Full Text] [Related]
22. Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients.
Gao S; Zhang Q; Ding Y; Wang L; Li Z; Hu F; Yao RE; Yu T; Chang G; Wang X
Orphanet J Rare Dis; 2024 Apr; 19(1):149. PubMed ID: 38584252
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Bardet Biedl syndrome in South Africa: A single founder mutation.
Fieggen K; Milligan C; Henderson B; Esterhuizen AI
S Afr Med J; 2016 May; 106(6 Suppl 1):S72-4. PubMed ID: 27245532
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. In search of triallelism in Bardet-Biedl syndrome.
Abu-Safieh L; Al-Anazi S; Al-Abdi L; Hashem M; Alkuraya H; Alamr M; Sirelkhatim MO; Al-Hassnan Z; Alkuraya B; Mohamed JY; Al-Salem A; Alrashed M; Faqeih E; Softah A; Al-Hashem A; Wali S; Rahbeeni Z; Alsayed M; Khan AO; Al-Gazali L; Taschner PE; Al-Hazzaa S; Alkuraya FS
Eur J Hum Genet; 2012 Apr; 20(4):420-7. PubMed ID: 22353939
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Bardet-Biedl syndrome and related disorders in Japan.
Hirano M; Satake W; Moriyama N; Saida K; Okamoto N; Cha PC; Suzuki Y; Kusunoki S; Toda T
J Hum Genet; 2020 Oct; 65(10):847-853. PubMed ID: 32451492
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. 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]
31. 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]
32. 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]
33. C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.
Khan AO; Decker E; Bachmann N; Bolz HJ; Bergmann C
Ophthalmic Genet; 2016 Sep; 37(3):290-3. PubMed ID: 26854863
[TBL] [Abstract][Full Text] [Related]
34. 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]
35. 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]
36. Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome.
Tao T; Wang L; Chong W; Yang L; Li G
Int Ophthalmol; 2020 Sep; 40(9):2325-2343. PubMed ID: 32448990
[TBL] [Abstract][Full Text] [Related]
37. Differential effects on β-cell mass by disruption of Bardet-Biedl syndrome or Alstrom syndrome genes.
Lodh S; Hostelley TL; Leitch CC; O'Hare EA; Zaghloul NA
Hum Mol Genet; 2016 Jan; 25(1):57-68. PubMed ID: 26494903
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.
Yang Z; Yang Y; Zhao P; Chen K; Chen B; Lin Y; Guo F; Chen Y; Liu X; Lu F; Shi Y; Zhang D; Liao S; Xia Q
Mol Vis; 2008; 14():2304-8. PubMed ID: 19093007
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]