Bardet-Biedl Syndrome and Brain Abnormalities

No abstract is available for this paper.

• Publication year

  2007

• Venue

  Neuropediatrics

• Publication date

  2007-02-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1055/s-2007-981466PMID 17607597
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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

  2006cited by this paper
• Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).

  2006cited by this paper
• Genetic basis of Joubert syndrome and related disorders of cerebellar development.

  2005cited by this paper
• Clinical and genetic epidemiology of Bardet–Biedl syndrome in Newfoundland: A 22‐year prospective, population‐based, cohort study

  2005cited by this paper
• Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

  2005cited by this paper
• The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression

  2004cited by this paper
• Linguistic and Gait Disturbance in a Child with Laurence-Moon-Biedl Syndrome: Left Temporal and Parietal Lobe Hypoplasia

  2004cited by this paper
• Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.

  2004cited by this paper
• From cilia to cyst

  2003cited by this paper
• Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome

  2003cited by this paper
• Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

  2003cited by this paper
• Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

  2003cited by this paper
• Intraflagellar transport and cilia-dependent diseases.

  2002cited by this paper
• Cerebellar Vermis Hypoplasia in a Patient With Bardet-Biedl Syndrome

  2002cited by this paper
• The Land Between Mendelian and Multifactorial Inheritance

  2001cited by this paper
• Genetics. The land between Mendelian and multifactorial inheritance.

  2001cited by this paper
• Exploring the molecular basis of Bardet-Biedl syndrome.

  2001cited by this paper
• Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder

  2001cited by this paper
• New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

  1999cited by this paper
• Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome: report of five cases

  1997cited by this paper
• Bardet-Biedl syndrome: delayed diagnosis in a child with Hirschsprung disease.

  1996cited by this paper
• A patient with features of both Bardet-Biedl and Alström syndromes

  1990cited by this paper
• [Incomplete Bardet-Biedl syndrome associated with cerebellar ataxia].

  1989cited by this paper
• The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.

  1989cited by this paper
• Retinal and neurologic findings in the Laurence-Moon-Bardet-Biedl phenotype.

  1986cited by this paper
• Laurence-Moon-Biedl Syndrome: Report of Two Unrelated Children Less Than 3 Years of Age

  1973cited by this paper

• Primary cilia as architects of the neocortex: Roles in brain development, function, and microcephaly.

  2025cites this paper
• Primary Cilia in Glial Cells: An Oasis in the Journey to Overcoming Neurodegenerative Diseases

  2021cites this paper
• Gene expression atlas of energy balance brain regions

  2021cites this paper
• Bardet-Biedl Syndrome in rhesus macaques: A nonhuman primate model of retinitis pigmentosa.

  2019cites this paper
• Bardet-Biedl Syndrome

  2018cites this paper
• Ciliary Defects in a Mouse Model of Bardet–Biedl Syndrome are Selectively Pronounced in Brain Regions Involved in Cardiovascular Regulation

  2017cites this paper
• Neuroanatomical and molecular correlates of cognitive and behavioural outcomes in hypogonadal males

  2017cites this paper
• Neuroradiological findings in hypogonadotropic hypogonadism.

  2016cites this paper
• Genetics of human Bardet–Biedl syndrome, an updates

  2016cites this paper
• Bardet–Biedl syndrome: Is it only cilia dysfunction?

  2015cites this paper
• Developmental disruptions underlying brain abnormalities in ciliopathies

  2015cites this paper
• Ciliopathy Is Differentially Distributed in the Brain of a Bardet-Biedl Syndrome Mouse Model

  2014cites this paper
• Causes of Congenital Malformations

  2014cites this paper
• Olfaction evaluation and correlation with brain atrophy in Bardet‐Biedl syndrome

  2014cites this paper
• Syndrome de Bardet-Biedl: à propos d’un cas

  2014cites this paper
• Abnormalities of the Central Nervous System Across the Ciliopathy Spectrum

  2013cites this paper
• The neuropathology of obesity: insights from human disease

  2013cites this paper
• Novel Mutations Including Deletions of the Entire OFD1 Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

  2013cites this paper
• [Ophthalmologic manifestations of Bardet-Biedl syndrome].

  2013cites this paper
• Cilia and Nervous System Development and Function

  2013cites this paper
• Primary Cilia in Cerebral Cortex: Growth and Functions on Neuronal and Non-neuronal Cells

  2013cites this paper
• Development and distribution of neuronal cilia in mouse neocortex

  2012cites this paper
• BARDET BIEDL SYNDROME WITH TYPICAL RETINITIS PIGMENTOSA AND HYPERGONADOTROPHIC HYPOGONADISM

  2011cites this paper
• The ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome‐related disorders

  2011cites this paper
• Two sisters with Bardet-Biedl syndrome: brain abnormalities and unusual facial findings.

  2011cites this paper
• Failed cytokinesis of neural progenitors in citron kinase-deficient rats leads to multiciliated neurons.

  2011cites this paper
• Cilia in the nervous system: linking cilia function and neurodevelopmental disorders.

  2011cites this paper
• The primary cilium in different tissues—lessons from patients and animal models

  2011cites this paper
• Radiologic and hormonal evaluation of pituitary abnormalities in patients with Bardet–Biedl syndrome

  2011cites this paper
• Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet–Biedl syndrome

  2011cites this paper
• Brain tissue- and region-specific abnormalities on volumetric MRI scans in 21 patients with Bardet-Biedl syndrome (BBS)

  2011cites this paper
• Disturbed synaptic connectivity in schizophrenia: convergence of genetic risk factors during neurodevelopment.

  2010cites this paper
• The role of primary cilia in neuronal function.

  2010cites this paper
• Analyse de réarrangements génomiques chez des patients atteints d'anomalies du développement embryonnaire : retard mental et malformations multiples congénitales; spectre oculo-auriculo-vertébral

  2009cites this paper
• Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy.

  2009cites this paper
• Mise au point Le syndrome de Bardet-Biedl Bardet-Biedl syndrome

  2008cites this paper
• [Bardet-Biedl syndrome].

  2008cites this paper
• Das Bardet-Biedl-Syndrom

  2008cites this paper
• Le syndrome de Bardet-Biedl Bardet-Biedl syndrome

  2008cites this paper
• A knockin mouse model of the Bardet–Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity

  2007cites this paper