Genetics of human Bardet-Biedl syndrome, an updates (Q38695238)

5 September 2017

Genetics of human Bardet-Biedl syndrome, an updates (English)

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5 September 2017

Bardet-Biedl syndrome

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S A Khan

1

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5 September 2017

N Muhammad

2

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5 September 2017

M A Khan

3

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5 September 2017

A Kamal

4

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5 September 2017

Z U Rehman

5

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5 September 2017

S Khan

6

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5 September 2017

14 January 2016

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5 September 2017

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5 September 2017

90

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5 September 2017

3-15

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5 September 2017

1

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

5 September 2017

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Bardet-Biedl syndrome: a molecular and phenotypic study of 18 families

21 January 2018

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21 January 2018

Bardet-Biedl syndrome.

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

21 January 2018

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The Spectrum of Renal Disease in Laurence–Moon–Biedl Syndrome

21 January 2018

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Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients

21 January 2018

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Four cases of "retinitis pigmentosa" occurring in the same family, and accompanied by general imperfections of development. 1866.

21 January 2018

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A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

21 January 2018

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The BBSome controls IFT assembly and turnaround in cilia

21 January 2018

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Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery

21 January 2018

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Molecular genetics of infantile-onset retinal dystrophies

21 January 2018

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Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies

21 January 2018

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Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Increased adipose tissue expression of tumor necrosis factor-alpha in human obesity and insulin resistance

21 January 2018

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The expression of TNF alpha by human muscle. Relationship to insulin resistance

21 January 2018

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Leptin modulates the T-cell immune response and reverses starvation-induced immunosuppression

21 January 2018

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Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations.

21 January 2018

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Update on the genetics of bardet-biedl syndrome

21 January 2018

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Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells

21 January 2018

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Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome.

21 January 2018

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

21 January 2018

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Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

21 January 2018

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Bardet–Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption

21 January 2018

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Vasopressin receptor-mediated functional signaling pathway in primary cilia of renal epithelial cells

21 January 2018

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Making sense of cilia in disease: the human ciliopathies.

21 January 2018

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Bardet-biedl syndrome and brain abnormalities.

21 January 2018

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Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

21 January 2018

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

21 January 2018

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Loss of Bardet-Biedl syndrome protein-8 (BBS8) perturbs olfactory function, protein localization, and axon targeting

21 January 2018

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

21 January 2018

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Olfaction evaluation and correlation with brain atrophy in Bardet-Biedl syndrome.

21 January 2018

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Prevalence of Bardet-Biedl syndrome in Tunisia

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome

21 January 2018

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A Novel Familial BBS12 Mutation Associated with a Mild Phenotype: Implications for Clinical and Molecular Diagnostic Strategies

21 January 2018

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

21 January 2018

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The oligogenic properties of Bardet-Biedl syndrome

21 January 2018

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

21 January 2018

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Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

21 January 2018

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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

21 January 2018

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The vertebrate primary cilium in development, homeostasis, and disease

21 January 2018

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

21 January 2018

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Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.

21 January 2018

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Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

21 January 2018

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

21 January 2018

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Further support for digenic inheritance in Bardet-Biedl syndrome

21 January 2018

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Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping

21 January 2018

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

21 January 2018

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Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Pitfalls of homozygosity mapping: an extended consanguineous Bardet-Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

21 January 2018

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Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique

21 January 2018

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A founder mutation in BBS2 is responsible for Bardet-Biedl syndrome in the Hutterite population: utility of SNP arrays in genetically heterogeneous disorders.

21 January 2018

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

21 January 2018

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

21 January 2018

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Carrier frequency of two BBS2 mutations in the Ashkenazi population.

21 January 2018

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

21 January 2018

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

21 January 2018

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Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

21 January 2018

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Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Screening of the eight BBS genes in Tunisian families: no evidence of triallelism

21 January 2018

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Novel mutations in BBS5 highlight the importance of this gene in non-Caucasian Bardet-Biedl syndrome patients

21 January 2018

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Functional modelling of a novel mutation in BBS5.

21 January 2018

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Mutations in MKKS cause Bardet-Biedl syndrome

21 January 2018

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Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci

21 January 2018

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Bardet-Biedl syndrome gene variants are associated with both childhood and adult common obesity in French Caucasians.

21 January 2018

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

21 January 2018

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Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients

21 January 2018

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

21 January 2018

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Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

21 January 2018

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BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families

21 January 2018

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

21 January 2018

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Identification of compound heterozygous mutations in the BBS7 gene in a Korean family with Bardet-Biedl syndrome

21 January 2018

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

21 January 2018

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

21 January 2018

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The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour

21 January 2018

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Bardet-Biedl syndrome in Denmark--report of 13 novel sequence variations in six genes

21 January 2018

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BBS10 mutations are common in 'Meckel'-type cystic kidneys

21 January 2018

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A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family.

21 January 2018

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

21 January 2018

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

21 January 2018

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High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy

21 January 2018

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Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

21 January 2018

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Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

21 January 2018

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Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

21 January 2018

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Mutational analysis of SDCCAG8 in Bardet-Biedl syndrome patients with renal involvement and absent polydactyly.

21 January 2018

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Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly.

21 January 2018

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Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

21 January 2018

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IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

21 January 2018

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Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

21 January 2018

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A novel ADP-ribosylation like factor (ARL-6), interacts with the protein-conducting channel SEC61beta subunit

21 January 2018

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Structure and function of ARF proteins: activators of cholera toxin and critical components of intracellular vesicular transport processes

21 January 2018

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Arf, Arl, Arp and Sar proteins: a family of GTP-binding proteins with a structural device for 'front-back' communication

21 January 2018

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Expression of ADP-ribosylation factor (ARF)-like protein 6 during mouse embryonic development

21 January 2018

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

21 January 2018

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

21 January 2018

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Functional coordination of intraflagellar transport motors.

21 January 2018

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Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

21 January 2018

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Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component

21 January 2018

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TRIM32 is an E3 ubiquitin ligase for dysbindin

21 January 2018

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MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

21 January 2018

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Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

21 January 2018

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MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

21 January 2018

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The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

21 January 2018

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Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

21 January 2018

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The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

21 January 2018

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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

21 January 2018

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CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

21 January 2018

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The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3

21 January 2018

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A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened

21 January 2018

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A BBSome subunit links ciliogenesis, microtubule stability, and acetylation

21 January 2018

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21 January 2018

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Intraflagellar transport protein 27 is a small G protein involved in cell-cycle control

21 January 2018

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

21 January 2018

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Clinical evidence of decreased olfaction in Bardet-Biedl syndrome caused by a deletion in theBBS4Gene

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/CGE.12737

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5 September 2017

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