1 |
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
61
56
6
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Stoetzel C...Dollfus H
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17160889 |
2007 |
2 |
Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.
61
56
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Dulfer E...van Essen AJ
|
20827784 |
2010 |
3 |
Bardet-Biedl Syndrome
61
6
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Forsythe E...Beales PL
|
20301537 |
2003 |
4 |
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
56
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Scheidecker S...Dollfus HJ
|
25982971 |
2015 |
5 |
Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.
56
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Harville HM...Hildebrandt F
|
19797195 |
2010 |
6 |
Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.
6
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Badano JL...Katsanis N
|
12567324 |
2003 |
7 |
New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey.
56
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Beales PL...Flinter FA
|
10874630 |
1999 |
8 |
Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome.
61
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Tao T...Li G
|
32448990 |
2020 |
9 |
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes.
61
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Jaffal L...El Shamieh S
|
31888296 |
2019 |
10 |
Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT.
61
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Hey CAB...Moller LB
|
30312873 |
2018 |
11 |
Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing.
61
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Nikkhah E...Golchin N
|
29633607 |
2018 |
12 |
Genome-wide association study identifies loci and candidate genes for internal organ weights in Simmental beef cattle.
61
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An B...Gao H
|
29676954 |
2018 |
13 |
Comprehensive transcriptomic analysis of heat shock proteins in the molecular subtypes of human breast cancer.
61
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Zoppino FCM...Ciocca DR
|
29954368 |
2018 |
14 |
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.
61
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Sanchez-Navarro I...Ayuso C
|
29588463 |
2018 |
15 |
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India.
61
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Chandrasekar SP...Sarangapani S
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29806606 |
2018 |
16 |
A novel dominant CRX mutation causes adult-onset macular dystrophy.
61
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Griffith JF...Traboulsi EI
|
28945142 |
2018 |
17 |
Bardet-Biedl Syndrome as a Chaperonopathy: Dissecting the Major Role of Chaperonin-Like BBS Proteins (BBS6-BBS10-BBS12).
61
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Alvarez-Satta M...Valverde D
|
28824921 |
2017 |
18 |
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome.
61
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Hulleman JD...Mootha VV
|
26900326 |
2016 |
19 |
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.
61
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Ece Solmaz A...Ozkinay F
|
26518167 |
2015 |
20 |
Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families.
61
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Castro-Sanchez S...Valverde D
|
26082521 |
2015 |
21 |
Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.
61
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Alvarez-Satta M...Valverde D
|
24611592 |
2014 |
22 |
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.
61
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Fattahi Z...Najmabadi H
|
24849935 |
2014 |
23 |
Polarity gene alterations in pure invasive micropapillary carcinomas of the breast.
61
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Gruel N...Vincent-Salomon A
|
24887297 |
2014 |
24 |
A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome.
61
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Li Q...Peng X
|
25533820 |
2014 |
25 |
Pharmacological modulation of the retinal unfolded protein response in Bardet-Biedl syndrome reduces apoptosis and preserves light detection ability.
61
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Mockel A...Marion V
|
22869374 |
2012 |
26 |
BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response.
61
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Marion V...Dollfus H
|
22958920 |
2012 |
27 |
Genotype-phenotype correlations in Bardet-Biedl syndrome.
61
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Daniels AB...Berson EL
|
22410627 |
2012 |
28 |
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
61
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Zhang Q...Sheffield VC
|
22500027 |
2012 |
29 |
BBS mutational analysis: a strategic approach.
61
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Billingsley G...Heon E
|
21463199 |
2011 |
30 |
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
61
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Schaefer E...Dollfus H
|
21044901 |
2011 |
31 |
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
61
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Janssen S...Hildebrandt F
|
21052717 |
2011 |
32 |
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.
61
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Imhoff O...Moulin B
|
20876674 |
2011 |
33 |
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
61
|
Billingsley G...Heon E
|
20472660 |
2010 |
34 |
Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes.
61
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Hjortshoj TD...Brondum-Nielsen K
|
20120035 |
2010 |
35 |
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
61
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Muller J...Dollfus H
|
20177705 |
2010 |
36 |
New mutations in BBS genes in small consanguineous families with Bardet-Biedl syndrome: detection of candidate regions by homozygosity mapping.
61
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Pereiro I...Nishimura D
|
20142850 |
2010 |
37 |
A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies.
61
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Pawlik B...Wollnik B
|
20648243 |
2010 |
38 |
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
61
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Seo S...Sheffield VC
|
20080638 |
2010 |
39 |
Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.
61
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Marion V...Dollfus H
|
19190184 |
2009 |
40 |
[Bardet-Biedl syndrome].
61
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Rooryck C...Lacombe D
|
19019343 |
2008 |
41 |
Novel interaction partners of Bardet-Biedl syndrome proteins.
61
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Oeffner F...Grzeschik KH
|
18000879 |
2008 |
42 |
Bardet-Biedl syndrome: a case report.
61
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Karaman A
|
18319026 |
2008 |
43 |
A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.
61
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Yang Z...Xia Q
|
19093007 |
2008 |