(Q48618804)

13 February 2018

title

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

1 reference

13 February 2018

main subject

Bardet-Biedl syndrome

1 reference

1 reference

Alessandro Iannaccone

object named as

Alessandro Iannaccone

8

0 references

Edwin M. Stone

object named as

Edwin M Stone

6

0 references

Barbara Jean Jennings

5

object named as

Barbara J Jennings

1 reference

13 February 2018

author name string

Kyle F Cox

1

1 reference

13 February 2018

Natalie C Kerr

2

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13 February 2018

Marina Kedrov

3

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13 February 2018

Darryl Nishimura

4

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13 February 2018

Val C Sheffield

7

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13 February 2018

publication date

24 August 2012

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13 February 2018

published in

Vision Research

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13 February 2018

volume

75

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13 February 2018

page(s)

77-87

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13 February 2018

Diversity in autoimmunity against retinal, neuronal, and axonal antigens in acquired neuro-retinopathy.

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

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BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition

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

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Reproducibility of visual acuity measurements in patients with retinitis pigmentosa

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Association of antiretinal antibodies and cystoid macular edema in patients with retinitis pigmentosa

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The renal lesion of the Laurence-Moon-Biedl syndrome

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The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa

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Kinetics of visual field loss in Usher syndrome Type II.

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Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects

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Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in theBBS4Gene

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Autoimmune biomarkers in age-related macular degeneration: a possible role player in disease development and progression

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Retinal phenotype of an X-linked pseudo-Usher syndrome in association with the G173R mutation in the RPGR gene

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Electroretinographic alterations in the Laurence-Moon-Bardet-Biedl phenotype

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Analysis of photoreceptor function and inner retinal activity in juvenile X-linked retinoschisis

7 January 2021

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Visual acuities and dark-adapted thresholds of children with Bardet-Biedl syndrome

7 January 2021

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A BBSome subunit links ciliogenesis, microtubule stability, and acetylation

7 January 2021

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Identification of anti-retinal antibodies in patients with age-related macular degeneration.

7 January 2021

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Serum autoantibody biomarkers for age-related macular degeneration and possible regulators of neovascularization

7 January 2021

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Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly

7 January 2021

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

7 January 2021

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Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome

7 January 2021

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Establishing a connection between cilia and Bardet-Biedl Syndrome

7 January 2021

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The importance of renal impairment in the natural history of Bardet-Biedl syndrome

7 January 2021

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7 January 2021

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7 January 2021

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Identification and functional analysis of the vision-specific BBS3 (ARL6) long isoform

7 January 2021

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BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

7 January 2021

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Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia

7 January 2021

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Push-pull model of the primate photopic electroretinogram: a role for hyperpolarizing neurons in shaping the b-wave

7 January 2021

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Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model.

7 January 2021

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Enhanced depth imaging spectral-domain optical coherence tomography

7 January 2021

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Gene expression analysis of photoreceptor cell loss in bbs4-knockout mice reveals an early stress gene response and photoreceptor cell damage

7 January 2021

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Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.08.005

Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.08.005

Patterns of rod and cone dysfunction in Bardet-Biedl syndrome

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.VISRES.2012.08.005

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.VISRES.2012.08.005

1 reference

13 February 2018

PubMed ID

22940089

1 reference

13 February 2018