Condition: Bardet-Biedl Syndrome


rs111033570 in ASTN2;TRIM32 gene and Bardet-Biedl Syndrome PMID 15786463 2005 Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.

PMID 11822024 2002 Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.

PMID 23142638 2013 Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite.

PMID 21775502 2011 The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype.

rs587777829 in BBS1 gene and Bardet-Biedl Syndrome PMID 12118255 2002 Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

PMID 18327255 2008 Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.

PMID 12677556 2003 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

PMID 21052717 2011 Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

PMID 12920096 2003 Further support for digenic inheritance in Bardet-Biedl syndrome.

PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

PMID 23432027 2014 Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.

rs1156913215 in BBS10 gene and Bardet-Biedl Syndrome PMID 20472660 2010 Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.

PMID 27486776 2016 Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

PMID 25982971 2015 Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

PMID 22773737 2012 Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.

PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

PMID 20805367 2010 BBS10 mutations are common in 'Meckel'-type cystic kidneys.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 16582908 2006 BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.

PMID 17980398 2008 Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.

PMID 19190184 2009 Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.

PMID 25366773 2014 Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations.

PMID 21052717 2011 Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

PMID 27385962 2016 Bardet-Biedl Syndrome.

PMID 5982971 1966 [Proposals for the drug section of the DAB 7. 16: Thyme leaves].

PMID 27788217 2016 Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.

PMID 28808579 2017 A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

PMID 21044901 2011 Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

PMID 17106446 2007 Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

PMID 22410627 2012 Genotype-phenotype correlations in Bardet-Biedl syndrome.

PMID 21209035 2011 Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.

PMID 21157496 2011 Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

PMID 22353939 2012 In search of triallelism in Bardet-Biedl syndrome.

PMID 27245532 2016 Bardet Biedl syndrome in South Africa: A single founder mutation.

PMID 24041679 2014 Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step PCR-based enrichment in combination with next-generation sequencing.

rs121918327 in BBS12 gene and Bardet-Biedl Syndrome PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

PMID 20827784 2010 Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.

PMID 21642631 2011 Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 20080638 2010 BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.

PMID 17160889 2007 Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

PMID 23591405 2014 Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

PMID 24611592 2014 Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.

rs1057517332 in BBS1;ZDHHC24 gene and Bardet-Biedl Syndrome PMID 12118255 2002 Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

PMID 15314642 2004 Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.

PMID 12524598 2003 Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).

PMID 12837689 2003 Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

PMID 23143442 2012 In an RP proband who did not fulfill the clinical criteria for BBS, we identified a large homozygous region encompassing the BBS1 gene, which carried the p.M390R variant.

PMID 18766993 2008 Bardet-biedl syndrome: an atypical phenotype in brothers with a proven BBS1 mutation.

PMID 12677556 2003 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

PMID 18669544 2009 A novel founder BBS1 mutation explains a unique high prevalence of Bardet-Biedl syndrome in the Faroe Islands.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 22940089 2012 Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene.

PMID 17980398 2008 Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.

PMID 22581970 2012 A paradigm shift in the delivery of services for diagnosis of inherited retinal disease.

PMID 27032803 2016 Improving the management of Inherited Retinal Dystrophies by targeted sequencing of a population-specific gene panel.

PMID 18032602 2007 A knockin mouse model of the Bardet-Biedl syndrome 1 M390R mutation has cilia defects, ventriculomegaly, retinopathy, and obesity.

PMID 15770229 2005 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

PMID 20876674 2011 Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

PMID 21517826 2011 Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.

PMID 28224992 2017 Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

PMID 23143442 2012 BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome.

rs121908175 in BBS2 gene and Bardet-Biedl Syndrome PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 20177705 2010 Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

PMID 11567139 2001 Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder.

PMID 16909204 2006 Bardet-Biedl syndrome: an emerging pathomechanism of intracellular transport.

PMID 21052717 2011 Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.

PMID 21157496 2011 Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.

PMID 25533962 2015 Large-scale discovery of novel genetic causes of developmental disorders.

PMID 12837689 2003 Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBS locus.

PMID 11285252 2001 Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).

PMID 21642631 2011 Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

PMID 25541840 2015 Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa.

PMID 23829372 2014 Carrier frequency of two BBS2 mutations in the Ashkenazi population.

PMID 22410627 2012 Genotype-phenotype correlations in Bardet-Biedl syndrome.

PMID 19402160 2009 BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.

PMID 21344540 2011 BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

PMID 28800606 2017 Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes.

PMID 16877420 2006 Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.

PMID 23432027 2014 Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.

PMID 25133751 2014 Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

PMID 25412400 2015 Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

PMID 25988237 2016 Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet-Biedl syndrome.

PMID 25999675 2015 Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.

PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

PMID 24608809 2014 Comprehensive molecular diagnosis of Bardet-Biedl syndrome by high-throughput targeted exome sequencing.

rs1465437164 in BBS4 gene and Bardet-Biedl Syndrome PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

PMID 11381270 2001 Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

PMID 27208204 2016 Molecular findings from 537 individuals with inherited retinal disease.

PMID 24849935 2014 Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.

PMID 19402160 2009 BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

rs1054138918 in BBS5 gene and Bardet-Biedl Syndrome PMID 15137946 2004 Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.

PMID 30718709 2019 Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.

PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

PMID 26325687 2015 The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.

rs119466002 in BBS7 gene and Bardet-Biedl Syndrome PMID 21642631 2011 Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 22500027 2012 Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.

PMID 12567324 2003 Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2.

PMID 23572516 2013 BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.

PMID 19402160 2009 BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.

PMID 26518167 2015 Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

rs137852856 in BBS9 gene and Bardet-Biedl Syndrome PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

PMID 16380913 2005 Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.

rs1569077441 in IFT27 gene and Bardet-Biedl Syndrome PMID 30761183 2019 Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome.

rs780659194 in IFT27;LOC105373021 gene and Bardet-Biedl Syndrome PMID 30761183 2019 Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome.

rs1297985227 in MKKS gene and Bardet-Biedl Syndrome PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

PMID 10973238 2000 Mutations in MKKS cause Bardet-Biedl syndrome.

PMID 18094050 2008 MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.

PMID 20498079 2010 Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.

PMID 10802661 2000 Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

rs1553794304 in PIGX;CEP19 gene and Bardet-Biedl Syndrome PMID 29127258 2018 Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly.

rs121917777 in ZDHHC24;BBS1 gene and Bardet-Biedl Syndrome PMID 22410627 2012 Genotype-phenotype correlations in Bardet-Biedl syndrome.

PMID 15770229 2005 Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort.

PMID 12118255 2002 Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

PMID 21642631 2011 Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.

PMID 21517826 2011 Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet-Biedl syndrome underline complex CNS impact of primary cilia.

PMID 16327777 2006 Dissection of epistasis in oligogenic Bardet-Biedl syndrome.

PMID 12677556 2003 Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

PMID 26518167 2015 Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.

PMID 30614526 2019 Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.