541 related articles for article (PubMed ID: 10973238)
1. Mutations in MKKS cause Bardet-Biedl syndrome.
Slavotinek AM; Stone EM; Mykytyn K; Heckenlively JR; Green JS; Heon E; Musarella MA; Parfrey PS; Sheffield VC; Biesecker LG
Nat Genet; 2000 Sep; 26(1):15-6. PubMed ID: 10973238
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
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. Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Mykytyn K; Nishimura DY; Searby CC; Shastri M; Yen HJ; Beck JS; Braun T; Streb LM; Cornier AS; Cox GF; Fulton AB; Carmi R; Lüleci G; Chandrasekharappa SC; Collins FS; Jacobson SG; Heckenlively JR; Weleber RG; Stone EM; Sheffield VC
Nat Genet; 2002 Aug; 31(4):435-8. PubMed ID: 12118255
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.
White DR; Ganesh A; Nishimura D; Rattenberry E; Ahmed S; Smith UM; Pasha S; Raeburn S; Trembath RC; Rajab A; Macdonald F; Banin E; Stone EM; Johnson CA; Sheffield VC; Maher ER
Eur J Hum Genet; 2007 Feb; 15(2):173-8. PubMed ID: 17106446
[TBL] [Abstract][Full Text] [Related]
8. A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.
Hulleman JD; Nguyen A; Ramprasad VL; Murugan S; Gupta R; Mahindrakar A; Angara R; Sankurathri C; Mootha VV
Mol Vis; 2016; 22():73-81. PubMed ID: 26900326
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
Mykytyn K; Braun T; Carmi R; Haider NB; Searby CC; Shastri M; Beck G; Wright AF; Iannaccone A; Elbedour K; Riise R; Baldi A; Raas-Rothschild A; Gorman SW; Duhl DM; Jacobson SG; Casavant T; Stone EM; Sheffield VC
Nat Genet; 2001 Jun; 28(2):188-91. PubMed ID: 11381270
[TBL] [Abstract][Full Text] [Related]
11. Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome.
Fath MA; Mullins RF; Searby C; Nishimura DY; Wei J; Rahmouni K; Davis RE; Tayeh MK; Andrews M; Yang B; Sigmund CD; Stone EM; Sheffield VC
Hum Mol Genet; 2005 May; 14(9):1109-18. PubMed ID: 15772095
[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. 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]
14. 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]
15. Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.
Khan S; Ullah I; Irfanullah ; Touseef M; Basit S; Khan MN; Ahmad W
Gene; 2013 Feb; 515(1):84-8. PubMed ID: 23219996
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.
Katsanis N; Ansley SJ; Badano JL; Eichers ER; Lewis RA; Hoskins BE; Scambler PJ; Davidson WS; Beales PL; Lupski JR
Science; 2001 Sep; 293(5538):2256-9. PubMed ID: 11567139
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. 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]
20. Bardet-Biedl syndrome initially presenting as McKusick-Kaufman syndrome.
Hou JW
J Formos Med Assoc; 2004 Aug; 103(8):629-32. PubMed ID: 15340663
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
