Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS) (Q33973018)

30 July 2017

Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS) (English)

1 reference

30 July 2017

Bardet-Biedl syndrome

1 reference

1 reference

Peggy C Nopoulos

6

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Leslie G Biesecker

7

object named as

Leslie G Biesecker

1 reference

30 July 2017

Kim M Keppler-Noreuil

1

object named as

Kim M Keppler-Noreuil

1 reference

30 July 2017

Catherine Blumhorst

2

1 reference

30 July 2017

Julie C Sapp

3

1 reference

30 July 2017

Danielle Brinckman

4

1 reference

30 July 2017

Jennifer Johnston

5

1 reference

30 July 2017

27 July 2011

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30 July 2017

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30 July 2017

12

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30 July 2017

101

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https://scigraph.springernature.com/pub.10.1186/1471-2350-12-101

30 July 2017

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cites work

Hyperactivity, impulsivity, and inattention in boys with cleft lip and palate: relationship to ventromedial prefrontal cortex morphology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

Structural MRI of pediatric brain development: what have we learned and where are we going?

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

Striatal and white matter predictors of estimated diagnosis for Huntington disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

Bardet-biedl syndrome and brain abnormalities.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

From genes to brain: understanding brain development in neurogenetic disorders using neuroimaging techniques

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

The Ciliopathies: An Emerging Class of Human Genetic Disorders

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

Structural magnetic resonance imaging of the adolescent brain

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

Linguistic and gait disturbance in a child with Laurence-Moon-Biedl syndrome: left temporal and parietal lobe hypoplasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

Cerebellar vermis hypoplasia in a patient with Bardet-Biedl syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

Mutations in MKKS cause Bardet-Biedl syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome: report of five cases

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

Empty sellae, impaired testosterone secretion, and defective hypothalamic-pituitary growth and gonadal axes in children with Bardet-Biedl syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). 1920.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

Laurence-Moon-Biedl syndrome. Report of two unrelated children less than 3 years of age.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

Flowing cerebrospinal fluid in normal and hydrocephalic states: appearance on MR images.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

Incomplete Bardet-Biedl syndrome associated with cerebellar ataxia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

A patient with features of both Bardet-Biedl and Alström syndromes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3199749

Brain anatomy, gender and IQ in children and adolescents with fragile X syndrome

5 July 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-101

Brain volume in children with neurofibromatosis type 1: relation to neuropsychological status.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-101

Abnormal brain structure in adults with Van der Woude syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-101

Regional brain enlargement in autism: a magnetic resonance imaging study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-101

Cortical abnormalities in children and adolescents with attention-deficit hyperactivity disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-101

Sex differences in cognitive functioning in velocardiofacial syndrome (VCFS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-101

Morphology of the cerebral cortex in preclinical Huntington's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-101

Structural MR image processing using the BRAINS2 toolbox.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-101

Automated Talairach atlas-based parcellation and measurement of cerebral lobes in children.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-101

Thick visual cortex in the early blind.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-12-101

Subcortical volumes in girls with tourette syndrome: support for a gender effect

21 January 2018

1 reference

12 December 2020

Brain structural differences associated with the behavioural phenotype in children with Williams syndrome

1 reference

12 December 2020

Abnormal brain structure in children with isolated clefts of the lip or palate

1 reference

12 December 2020

Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2350-12-101

1 reference

Dimensions Publication ID

30 July 2017

0 references

1 reference

30 July 2017

1 reference