Clinical and molecular characterisation of Bardet–Biedl syndrome in consanguineous populations: the power of homozygosity mapping

No abstract is available for this paper.

• Publication year

  2009

• Venue

  Journal of Medical Genetics

• Publication date

  2009-10-26

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1136/jmg.2009.070755PMID 19858128
• 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.

• Molecular characterization of retinitis pigmentosa in Saudi Arabia

  2009influential reference
• BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet‐Biedl syndrome in a multiethnic population

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

  2009influential reference
• The nonmotile ciliopathies

  2009cited by this paper
• Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

  2008cited by this paper
• Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.

  2008cited by this paper
• Growth charts for Saudi children and adolescents.

  2007cited by this paper
• Regional variations in the prevalence of consanguinity in Saudi Arabia.

  2007cited by this paper
• Clinical evidence of decreased olfaction in Bardet–Biedl syndrome caused by a deletion in the BBS4 Gene

  2005cited by this paper
• Lifting the lid on Pandora's box: the Bardet-Biedl syndrome.

  2005cited by this paper
• A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays.

  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
• Microtubule transport defects in neurological and ciliary disease

  2005cited by this paper
• Comparative genomic analysis identifies an ADP-ribosylation factor-like gene as the cause of Bardet-Biedl syndrome (BBS3).

  2004cited by this paper
• Characterization of new transcripts enriched in the mouse retina and identification of candidate retinal disease genes.

  2004cited by this paper
• Bardet-Biedl syndrome type 3 in an Iranian family: clinical study and confirmation of disease localization.

  2000cited by this paper
• New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

  1999cited by this paper
• Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.

  1998cited by this paper
• Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families.

  1997cited by this paper

• Syndromic forms of inherited retinal dystrophies: a comprehensive molecular diagnosis of consanguineous Pakistani families using capture panel sequencing

  2025cites this paper
• Clinical Presentation and Co-Morbidities in Bardet-Biedel Syndrome: Case Series from a Single Centre

  2025cites this paper
• A Rare Disease With Rarer Presentation: A Case of Bardet-Biedl Syndrome Presented as End Stage Renal Disease Due To Glomerulonephritis

  2025cites this paper
• Syndromic obesity in children (using the example of clinical cases)

  2024cites this paper
• The Clinical and Mutational Spectrum of Bardet–Biedl Syndrome in Saudi Arabia

  2024cites this paper
• Autosomal Recessive Rod–Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9

  2024cites this paper
• Neonatal Hydrocolpos in Bardet-Biedl Syndrome due to a Novel Frameshift Indel in the BBS10 Gene

  2024cites this paper
• A rare case of Bardet–Biedl syndrome with BBS12 gene

  2023cites this paper
• Bardet-Biedl Syndrome: Current Perspectives and Clinical Outlook

  2023cites this paper
• Delineating the Spectrum of Genetic Variants Associated with Bardet-Biedl Syndrome in Consanguineous Pakistani Pedigrees

  2023cites this paper
• The emergence of genotypic divergence and future precision medicine applications.

  2023cites this paper
• Bardet–Biedl syndrome: Delayed diagnosis in a 14‐year‐old child with end‐stage renal disease

  2023cites this paper
• A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report

  2022cites this paper
• BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa

  2021cites this paper
• Bardet–Biedl Syndrome

  2021cites this paper
• A case of Bardet-Biedl syndrome caused by a recurrent variant in BBS12: A case report

  2021cites this paper
• The morbid genome of ciliopathies: an update

  2020cites this paper
• Bardet Biedl syndrome: A rare genetic disorder.

  2020cites this paper
• Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes

  2020cites this paper
• Clinical and exome sequencing findings in seven children with Bardet–Biedl syndrome from Turkey

  2020cites this paper
• A novel splice site mutation in the SDCCAG8 gene in an Iranian family with Bardet–Biedl syndrome

  2020cites this paper
• Computational strategies to investigate the genetic cause of human eye disease

  2019cites this paper
• Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet–Biedl and Usher Syndromes

  2019cites this paper
• Meta‐analysis of genotype‐phenotype associations in Bardet‐Biedl syndrome uncovers differences among causative genes

  2019cites this paper
• Inherited Retinal Dystrophies

  2019cites this paper
• Human Mutation

  2019cites this paper
• Identification and Analysis of Genes Associated with Inherited Retinal Diseases.

  2019cites this paper
• Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

  2019cites this paper
• Screening for mutation hotspots in Bardet–Biedl syndrome patients from India

  2018cites this paper
• Vision Loss Case of Bardet Biedl Syndrome

  2018cites this paper
• Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies

  2018cites this paper
• 2332-290 X Vision Loss Case of Bardet Biedl Syndrome

  2018cites this paper
• Metodologies d'alt rendiment per a la identificació de noves mutacions i gens causants de distròfies de retina: estudi funcional de nous candidats

  2017cites this paper
• Çocukluk Çağinda Sik Görülen Obezite Sendromlari Common Obesity Syndromes in Childhood

  2016cites this paper
• Genetic Diagnosis of Renal Diseases: Basic Concepts and Testing

  2016cites this paper
• Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

  2016cites this paper
• Homozygosity mapping identified a novel protein truncating mutation (p.Ser100Leufs*24) of the BBS9 gene in a consanguineous Pakistani family with Bardet Biedl syndrome

  2016cites this paper
• Bardet–Biedl syndrome: Genetics, molecular pathophysiology, and disease management

  2016cites this paper
• Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.

  2016cites this paper
• Common Obesity Syndromes in Childhood

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

  2016cites this paper
• Investigation of the genetic cause and related phenotypes of rare early onset retinal dystrophies

  2016cites this paper
• The Regulation of Alternative Pre-mRNA Splicing in Photoreceptor Cells

  2016cites this paper
• Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra‐ocular features

  2015cites this paper
• Vitritis in pediatric genetic retinal disorders.

  2015cites this paper
• Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort

  2015cites this paper
• Ciliary disturbances in syndromal and non-syndromal obesity.

  2015cites this paper
• Syndromic ciliopathies: From single gene to multi gene analysis by SNP arrays and next generation sequencing.

  2015cites this paper
• Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa

  2015cites this paper
• Functional modelling of a novel mutation in BBS5

  2014cites this paper
• Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

  2014cites this paper
• Ciliary disturbances in syndromal and non-syndromal obesity

  2014cites this paper
• A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet‐Biedl syndrome

  2014cites this paper
• IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome.

  2014cites this paper
• Mutation profile of BBS genes in Iranian patients with Bardet–Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes

  2014cites this paper
• Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

  2013cites this paper
• Molecular genetic analysis of inherited kidney disease in Saudi Arabia

  2013influential citation
• Ocular genetic disease in the Middle East

  2013cites this paper
• Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations

  2013cites this paper
• Update on the Genetics of Bardet-Biedl Syndrome

  2013cites this paper
• Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.

  2013cites this paper
• Whole-genome resequencing of Hanwoo (Korean cattle) and insight into regions of homozygosity

  2013cites this paper
• disease genes patients reveals pathogenetic mutations and novel candidate Autozygome-guided exome sequencing in retinal dystrophy Material Supplemental

  2012cites this paper
• Non-syndromic retinal ciliopathies: translating gene discovery into therapy.

  2012cites this paper
• Molecular characterization of Joubert syndrome in Saudi Arabia

  2012cites this paper
• Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

  2012cites this paper
• BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

  2012cites this paper
• Genomic analysis of Meckel–Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

  2012cites this paper
• A functional promoter polymorphism of the δ‐globin gene is a specific marker of the Arab‐Indian haplotype

  2012cites this paper
• Discovery of Rare Homozygous Mutations from Studies of Consanguineous Pedigrees

  2012cites this paper
• Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions

  2012cites this paper
• BBS 1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

  2012cites this paper
• In search of triallelism in Bardet–Biedl syndrome

  2012cites this paper
• Harnessing Information Using Genomic Platforms

  2012cites this paper
• Non-Traditional Approaches to Interrogating Genome-Wide SNP Data

  2012cites this paper
• [Paediatric obesities: from childhood to adolescence].

  2011cites this paper
• Anesthetic Management of a Patient with Laurence Moon Biedl Bardet Syndrome

  2011cites this paper
• Cross-sectional Phenotypical Differentiation of Major Blinding Eye Diseases in Europe: Inherited Retinal Dystrophies in Focus

  2011cites this paper
• Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

  2011cites this paper
• Obesidades pediátricas: de la lactancia a la adolescencia

  2011cites this paper
• Detecting autozygosity through runs of homozygosity: A comparison of three autozygosity detection algorithms

  2011cites this paper
• Mutation of IGFBP7 causes upregulation of BRAF/MEK/ERK pathway and familial retinal arterial macroaneurysms.

  2011cites this paper
• Clinical, biochemical and molecular characterization of peroxisomal diseases

  2011cites this paper
• Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

  2011cites this paper
• An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17

  2011cites this paper
• BBS Mutational Analysis: A Strategic Approach

  2011cites this paper
• Anesthetic Management of a Patient with Laurence Moon Biedl Bardet

  2011cites this paper
• A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

  2011cites this paper
• Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

  2011cites this paper
• Efficient identification of novel mutations in patients with limb girdle muscular dystrophy

  2010cites this paper
• Elucidating a role for BBS3 in syndromic and non- syndromic retinal disease

  2010cites this paper
• Mutation of CANT1 causes Desbuquois dysplasia

  2010cites this paper
• Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

  2010influential citation
• The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel

  2010cites this paper
• Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform

  2010cites this paper
• A founder mutation in BBS2 is responsible for Bardet‐Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders

  2010cites this paper
• Regions of homozygosity and their impact on complex diseases and traits

  2010cites this paper
• Homozygosity mapping: One more tool in the clinical geneticist's toolbox

  2010cites this paper
• A null mutation in CABP4 causes Leber’s congenital amaurosis-like phenotype

  2010cites this paper
• A founder mutation in BBS 2 is responsible for Bardet-Biedl syndrome in the Hutterite population : utility of SNP arrays in genetically heterogeneous disorders

  2010cites this paper