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Intrafamilial variation of the phenotype in Bardet-Biedl syndrome.

Riise R, Andréasson S, Borgaström MK, Wright AF, Tommerup N, Rosenberg T, Tornqvist K.

Br J Ophthalmol. 1997 May;81(5):378-85. Erratum in: Br J Ophthalmol 1997 Aug;81(8):711. PMID: 9227203 [PubMed - indexed for MEDLINE]Related articlesFree article

Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

Beales PL, Warner AM, Hitman GA, Thakker R, Flinter FA.

J Med Genet. 1997 Feb;34(2):92-8.PMID: 9039982 [PubMed - indexed for MEDLINE]Related articlesFree article

The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.

Green JS, Parfrey PS, Harnett JD, Farid NR, Cramer BC, Johnson G, Heath O, McManamon PJ, O'Leary E, Pryse-Phillips W.

N Engl J Med. 1989 Oct 12;321(15):1002-9.PMID: 2779627 [PubMed - indexed for MEDLINE]Related articles

Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

Bruford EA, Riise R, Teague PW, Porter K, Thomson KL, Moore AT, Jay M, Warburg M, Schinzel A, Tommerup N, Tornqvist K, Rosenberg T, Patton M, Mansfield DC, Wright AF.

Genomics. 1997 Apr 1;41(1):93-9.PMID: 9126487 [PubMed - indexed for MEDLINE]Related articles

The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene.

Riise R, Tornqvist K, Wright AF, Mykytyn K, Sheffield VC.

Arch Ophthalmol. 2002 Oct;120(10):1364-7.PMID: 12365916 [PubMed - indexed for MEDLINE]Related articlesFree article

Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients.

Elbedour K, Zucker N, Zalzstein E, Barki Y, Carmi R.

Am J Med Genet. 1994 Aug 15;52(2):164-9. Review.PMID: 7802002 [PubMed - indexed for MEDLINE]Related articles

Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Moon-Bardet-Biedl syndrome.

Borgström MK, Riise R, Tornqvist K, Granath L.

J Oral Pathol Med. 1996 Feb;25(2):86-9.PMID: 8667262 [PubMed - indexed for MEDLINE]Related articles

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 6;59(2):199-203.PMID: 8588586 [PubMed - indexed for MEDLINE]Related articles

Full-field electroretinograms in individuals with the Laurence-Mood-Bardet-Biedl syndrome.

Riise R, Andréasson S, Tornqvist K.

Acta Ophthalmol Scand. 1996 Dec;74(6):618-20.PMID: 9017054 [PubMed - indexed for MEDLINE]Related articles

Ocular findings in the Laurence-Moon-Bardet-Biedl syndrome.

Riise R, Andréasson S, Wright AF, Tornqvist K.

Acta Ophthalmol Scand. 1996 Dec;74(6):612-7.PMID: 9017053 [PubMed - indexed for MEDLINE]Related articles

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping.

Sheffield VC, Carmi R, Kwitek-Black A, Rokhlina T, Nishimura D, Duyk GM, Elbedour K, Sunden SL, Stone EM.

Hum Mol Genet. 1994 Aug;3(8):1331-5.PMID: 7987310 [PubMed - indexed for MEDLINE]Related articles

A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty.

Iannello S, Bosco P, Cavaleri A, Camuto M, Milazzo P, Belfiore F.

Obes Rev. 2002 May;3(2):123-35. Review.PMID: 12120419 [PubMed - indexed for MEDLINE]Related articles

Cerebellar vermis hypoplasia in a patient with Bardet-Biedl syndrome.

Baskin E, Kayiran SM, Oto S, Alehan F, Agildere AM, Saatçi U.

J Child Neurol. 2002 May;17(5):385-7.PMID: 12150587 [PubMed - indexed for MEDLINE]Related articles

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.

Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, Stefanelli M, Murphy C, Cramer BC, Dean JC, Beales PL, Katsanis N, Bassett AS, Davidson WS, Parfrey PS.

Am J Med Genet A. 2005 Feb 1;132(4):352-60.PMID: 15637713 [PubMed - indexed for MEDLINE]Related articles

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]Related articles

Clinical features of Bardet-Biedl syndrome.

Ozer G, Yüksel B, Süleymanova D, Alhan E, Demircan N, Onenli N.

Acta Paediatr Jpn. 1995 Apr;37(2):233-6. Review.PMID: 7793264 [PubMed - indexed for MEDLINE]Related articles

Bardet-Biedl syndrome.

Steiner PA.

J Am Optom Assoc. 1990 Nov;61(11):852-5.PMID: 2081829 [PubMed - indexed for MEDLINE]Related articles

Dental abnormalities as a component of the Laurence-Moon-Bardet-Biedl syndrome.

Kobrin JL, Ternand CL, Knobloch WH, Johnson DD.

Ophthalmic Paediatr Genet. 1990 Dec;11(4):299-303.PMID: 2096358 [PubMed - indexed for MEDLINE]Related articles

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]Related articles

Retinal and neurologic findings in the Laurence-Moon-Bardet-Biedl phenotype.

Rizzo JF 3rd, Berson EL, Lessell S.

Ophthalmology. 1986 Nov;93(11):1452-6.PMID: 3808607 [PubMed - indexed for MEDLINE]Related articles