Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 212

1.

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
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.

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.

6.

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
7.

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
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.

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
10.

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
11.

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.

12.

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
13.

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
14.

A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family.

Agha Z, Iqbal Z, Azam M, Hoefsloot LH, van Bokhoven H, Qamar R.

Gene. 2013 Apr 25;519(1):177-81. doi: 10.1016/j.gene.2013.01.047. Epub 2013 Feb 9.

PMID:
23403234
15.

Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.

Chandrasekar SP, Namboothiri S, Sen P, Sarangapani S.

Indian J Med Res. 2018 Feb;147(2):177-182. doi: 10.4103/ijmr.IJMR_1822_15.

16.

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.

17.

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. doi: 10.1038/jhg.2014.28. Epub 2014 May 22.

PMID:
24849935
18.

Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.

Smaoui N, Chaabouni M, Sergeev YV, Kallel H, Li S, Mahfoudh N, Maazoul F, Kammoun H, Gandoura N, Bouaziz A, Nouiri E, M'Rad R, Chaabouni H, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2006 Aug;47(8):3487-95.

PMID:
16877420
19.

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
20.

Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

Janssen S, Ramaswami G, Davis EE, Hurd T, Airik R, Kasanuki JM, Van Der Kraak L, Allen SJ, Beales PL, Katsanis N, Otto EA, Hildebrandt F.

Hum Genet. 2011 Jan;129(1):79-90. doi: 10.1007/s00439-010-0902-8. Epub 2010 Oct 30.

Supplemental Content

Support Center