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Results: 1 to 20 of 270

1.

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. Epub 2002 Jul 15.

PMID:
12118255
[PubMed - indexed for MEDLINE]
2.

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.

PMID:
11381270
[PubMed - indexed for MEDLINE]
3.

Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Haines HL, Cornier AS, Cox GF, Fulton AB, Carmi R, Iannaccone A, Jacobson SG, Weleber RG, Wright AF, Riise R, Hennekam RC, Lüleci G, Berker-Karauzum S, Biesecker LG, Stone EM, Sheffield VC.

Am J Hum Genet. 2003 Feb;72(2):429-37. Epub 2003 Jan 10.

PMID:
12524598
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

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. Epub 2002 May 9.

PMID:
12107442
[PubMed - indexed for MEDLINE]
5.

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.

PMID:
15770229
[PubMed - indexed for MEDLINE]
Free Article
6.

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. Epub 2003 Apr 3.

PMID:
12677556
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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. Epub 2003 Feb 3.

PMID:
12567324
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

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. Epub 2002 May 15.

PMID:
12016587
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome.

Nakane T, Biesecker LG.

Am J Med Genet A. 2005 Sep 15;138(1):32-4.

PMID:
16104012
[PubMed - indexed for MEDLINE]
10.

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.

PMID:
10973251
[PubMed - indexed for MEDLINE]
11.

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. Epub 2005 Jan 21.

PMID:
15666242
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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. doi: 10.1002/humu.21204.

PMID:
20120035
[PubMed - indexed for MEDLINE]
13.

Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

Badano JL, Kim JC, Hoskins BE, Lewis RA, Ansley SJ, Cutler DJ, Castellan C, Beales PL, Leroux MR, Katsanis N.

Hum Mol Genet. 2003 Jul 15;12(14):1651-9.

PMID:
12837689
[PubMed - indexed for MEDLINE]
Free Article
14.

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 21;293(5538):2256-9.

PMID:
11567139
[PubMed - indexed for MEDLINE]
Free Article
15.

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. doi: 10.1136/jmg.2009.073205. Epub 2010 May 14.

PMID:
20472660
[PubMed - indexed for MEDLINE]
16.

Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome.

Sheffield VC.

Pediatr Res. 2004 Jun;55(6):908-11. Review.

PMID:
15155861
[PubMed - indexed for MEDLINE]
17.

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 1;14(9):1109-18. Epub 2005 Mar 16.

PMID:
15772095
[PubMed - indexed for MEDLINE]
Free Article
18.

Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.

Héon E, Westall C, Carmi R, Elbedour K, Panton C, Mackeen L, Stone EM, Sheffield VC.

Am J Med Genet A. 2005 Jan 30;132A(3):283-7.

PMID:
15690372
[PubMed - indexed for MEDLINE]
19.

A female with complete lack of Müllerian fusion, postaxial polydactyly, and tetralogy of fallot: genetic heterogeneity of McKusick-Kaufman syndrome or a unique syndrome?

Slavotinek AM, Dutra A, Kpodzo D, Pak E, Nakane T, Turner J, Whiteford M, Biesecker LG, Stratton P.

Am J Med Genet A. 2004 Aug 15;129A(1):69-72.

PMID:
15266619
[PubMed - indexed for MEDLINE]
20.

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. Epub 2006 Jul 5.

PMID:
16823392
[PubMed - indexed for MEDLINE]
Free Article

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