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Items: 1 to 20 of 103

1.
2.

Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants.

Esposito G, Testa F, Zacchia M, Crispo AA, Di Iorio V, Capolongo G, Rinaldi L, D'Antonio M, Fioretti T, Iadicicco P, Rossi S, Franzè A, Marciano E, Capasso G, Simonelli F, Salvatore F.

BMC Med Genet. 2017 Feb 1;18(1):10. doi: 10.1186/s12881-017-0372-0.

3.

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. doi: 10.1136/jmedgenet-2015-103099. Epub 2015 Jun 16.

PMID:
26082521
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. doi: 10.1136/jmg.2009.073205. Epub 2010 May 14.

PMID:
20472660
5.

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. doi: 10.1001/archophthalmol.2012.89.

PMID:
22410627
6.

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

Scheidecker S, Hull S, Perdomo Y, Studer F, Pelletier V, Muller J, Stoetzel C, Schaefer E, Defoort-Dhellemmes S, Drumare I, Holder GE, Hamel CP, Webster AR, Moore AT, Puech B, Dollfus HJ.

Am J Ophthalmol. 2015 Aug;160(2):364-372.e1. doi: 10.1016/j.ajo.2015.05.007. Epub 2015 May 15.

PMID:
25982971
7.

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.

8.

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. doi: 10.1016/j.ejmg.2015.10.011. Epub 2015 Oct 27.

PMID:
26518167
9.

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 Jan 24;22:73-81. eCollection 2016.

10.

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.

M'hamdi O, Redin C, Stoetzel C, Ouertani I, Chaabouni M, Maazoul F, M'rad R, Mandel JL, Dollfus H, Muller J, Chaabouni H.

Clin Genet. 2014 Feb;85(2):172-7. doi: 10.1111/cge.12129. Epub 2013 Apr 5.

PMID:
23432027
11.

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
12.

Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.

Forsythe E, Sparks K, Hoskins BE, Bagkeris E, McGowan BM, Carroll PV, Huda MS, Mujahid S, Peters C, Barrett T, Mohammed S, Beales PL.

Clin Genet. 2015 Apr;87(4):343-9. doi: 10.1111/cge.12373. Epub 2014 Apr 8. Erratum in: Clin Genet. 2016 May;89(5):636.

13.

TUDCA slows retinal degeneration in two different mouse models of retinitis pigmentosa and prevents obesity in Bardet-Biedl syndrome type 1 mice.

Drack AV, Dumitrescu AV, Bhattarai S, Gratie D, Stone EM, Mullins R, Sheffield VC.

Invest Ophthalmol Vis Sci. 2012 Jan 5;53(1):100-6. doi: 10.1167/iovs.11-8544.

14.

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 15;515(1):84-8. doi: 10.1016/j.gene.2012.11.023. Epub 2012 Dec 6.

PMID:
23219996
15.

BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

Estrada-Cuzcano A, Koenekoop RK, Senechal A, De Baere EB, de Ravel T, Banfi S, Kohl S, Ayuso C, Sharon D, Hoyng CB, Hamel CP, Leroy BP, Ziviello C, Lopez I, Bazinet A, Wissinger B, Sliesoraityte I, Avila-Fernandez A, Littink KW, Vingolo EM, Signorini S, Banin E, Mizrahi-Meissonnier L, Zrenner E, Kellner U, Collin RW, den Hollander AI, Cremers FP, Klevering BJ.

Arch Ophthalmol. 2012 Nov;130(11):1425-32. doi: 10.1001/archophthalmol.2012.2434.

PMID:
23143442
16.

Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.

Azari AA, Aleman TS, Cideciyan AV, Schwartz SB, Windsor EA, Sumaroka A, Cheung AY, Steinberg JD, Roman AJ, Stone EM, Sheffield VC, Jacobson SG.

Invest Ophthalmol Vis Sci. 2006 Nov;47(11):5004-10.

PMID:
17065520
17.

Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.

Cox KF, Kerr NC, Kedrov M, Nishimura D, Jennings BJ, Stone EM, Sheffield VC, Iannaccone A.

Vision Res. 2012 Dec 15;75:77-87. doi: 10.1016/j.visres.2012.08.005. Epub 2012 Aug 24.

18.

A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.

Hjortshøj TD, Grønskov K, Brøndum-Nielsen K, Rosenberg T.

Br J Ophthalmol. 2009 Mar;93(3):409-13. doi: 10.1136/bjo.2007.131110. Epub 2008 Jul 31.

PMID:
18669544
19.

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. Epub 2006 Nov 15.

20.

Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.

Álvarez-Satta M, Castro-Sánchez S, Pereiro I, Piñeiro-Gallego T, Baiget M, Ayuso C, Valverde D.

Clin Genet. 2014 Dec;86(6):601-2. doi: 10.1111/cge.12334. Epub 2014 Jan 26. No abstract available.

PMID:
24611592

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