(Q28505984)

24 January 2017

title

Phenotypic characterization of Bbs4 null mice reveals age-dependent penetrance and variable expressivity (English)

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Bardet-Biedl syndrome 4 (human)

24 January 2017

main subject

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GOA release 2020-03-11

author

James R. Lupski

14

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Nicholas Katsanis

object named as

Nicholas Katsanis

13

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Richard Paylor

3

object named as

Richard Paylor

1 reference

24 January 2017

1

Erica R. Eichers

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24 January 2017

author name string

Muhammad M. Abd-El-Barr

2

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24 January 2017

Richard Alan Lewis

4

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24 January 2017

Weimin Bi

5

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24 January 2017

Xiaodi Lin

6

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24 January 2017

Thomas P. Meehan

7

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24 January 2017

David W. Stockton

8

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24 January 2017

Samuel M. Wu

9

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24 January 2017

Elizabeth Lindsay

10

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24 January 2017

Monica J. Justice

11

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24 January 2017

Philip L. Beales

12

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24 January 2017

language of work or name

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1 September 2006

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24 January 2017

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24 January 2017

volume

120

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24 January 2017

issue

2

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24 January 2017

page(s)

211–226

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Progressive cone-rod degeneration

24 January 2017

cites work

1 reference

https://api.crossref.org/works/10.1007%2FS00439-006-0197-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-006-0197-Y

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-006-0197-Y

Congenital cystic dilation of the bile duct associated with Laurence-Moon-Biedl-Bardet syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00439-006-0197-Y

Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome

21 January 2018

1 reference

12 December 2020

The use of behavioral test batteries, II: effect of test interval

1 reference

12 December 2020

Juvenile nephronophthisis, congenital hepatic fibrosis and retinal hypoplasia in twins

1 reference

12 December 2020

Behavioural phenotype of Bardet-Biedl syndrome

1 reference

12 December 2020

Etiology of the metabolic syndrome: potential role of insulin resistance, leptin resistance, and other players

1 reference

12 December 2020

The use of behavioral test batteries: effects of training history.

1 reference

12 December 2020

Triallelic inheritance: a bridge between Mendelian and multifactorial traits

1 reference

12 December 2020

Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene

1 reference

12 December 2020

Behavioral and physiological mouse assays for anxiety: a survey in nine mouse strains

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12 December 2020

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance

1 reference

12 December 2020

Photoresponses of human rods in vivo derived from paired-flash electroretinograms

1 reference

12 December 2020

The role of ERG/VEP and eye movement recordings in children with ocular motor apraxia

1 reference

12 December 2020

Patterns of rod and cone dysfunction in Bardet-Biedl syndrome

1 reference

12 December 2020

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

Guanylate cyclase-activating protein (GCAP) 1 rescues cone recovery kinetics in GCAP1/GCAP2 knockout mice

1 reference

12 December 2020

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

1 reference

12 December 2020

New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

1 reference

12 December 2020

Suckling dysfunction caused by defects in the olfactory system in genetic arhinencephaly mice

1 reference

12 December 2020

Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3)

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12 December 2020

Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome

1 reference

12 December 2020

The Laurence-Moon-Biedl syndrome

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12 December 2020

Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

1 reference

12 December 2020

A proposed test battery and constellations of specific behavioral paradigms to investigate the behavioral phenotypes of transgenic and knockout mice

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12 December 2020

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

1 reference

12 December 2020

Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

1 reference

12 December 2020

HYDROMETROCOLPOS AS A SIMPLY INHERITED MALFORMATION.

1 reference

12 December 2020

Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

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12 December 2020

The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

1 reference

12 December 2020

Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2)

1 reference

12 December 2020

Beta wave of the scotopic (rod) electroretinogram as a measure of the activity of human on-bipolar cells

1 reference

12 December 2020

Leptin predicts a worsening of the features of the metabolic syndrome independently of obesity

1 reference

12 December 2020

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

1 reference

12 December 2020

Genital abnormalities in females with Bardet-Biedl syndrome

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12 December 2020

The Effect of Litter Size on the Growth, Survival and Behaviour of Neonatal Bulbectomised Mice

1 reference

12 December 2020

Mouse models of experimental atherosclerosis.

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12 December 2020

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

1 reference

12 December 2020

Association of cystic dilatation of intrahepatic and common bile ducts with Laurence-Moon-Biedl-Bardet syndrome

1 reference

12 December 2020

Mutations in MKKS cause Bardet-Biedl syndrome

1 reference

12 December 2020

Altered anxiety-related and social behaviors in the Fmr1 knockout mouse model of fragile X syndrome

1 reference

12 December 2020

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

1 reference

12 December 2020

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

1 reference

12 December 2020

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

1 reference

12 December 2020

Social organization and aggression in a group of olfactory bulbectomized male mice

1 reference

12 December 2020

Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).

1 reference

12 December 2020

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

1 reference

12 December 2020

Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis

1 reference

12 December 2020

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome

1 reference

12 December 2020

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

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12 December 2020

Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene

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12 December 2020

Phenotypic overlap between McKusick-Kaufman and Bardet-Biedl syndromes: are they related?

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12 December 2020

Retronasal or internasal olfaction can mediate odor-guided behaviors in newborn mice

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12 December 2020

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

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12 December 2020

Survival, growth and suckling behavior of neonatally bulbectomized rats

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12 December 2020

Familial occurrence of congenital retinal blindness and developmental renal lesions.

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12 December 2020

Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin

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12 December 2020

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

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12 December 2020

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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12 December 2020

Mutations in MKKS cause obesity, retinal dystrophy and renal malformations associated with Bardet-Biedl syndrome

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12 December 2020

Olfactory bulb removal vs peripherally induced anosmia: differential effects on the aggressive behavior of male mice

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12 December 2020

Ocular phenotypes of three genetic variants of Bardet-Biedl syndrome.

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12 December 2020

Hepatic involvement in the Bardet-Biedl syndrome

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12 December 2020

Hydrometrocolpos as a neonatal manifestation of the Bardet-Biedl syndrome

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12 December 2020

Electrophysiological and eye-movement abnormalities in children with the Bardet-Biedl syndrome

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12 December 2020

The transcription factor Bhlhb4 is required for rod bipolar cell maturation

1 reference

12 December 2020