(Q42275110)

19 October 2017

In search of triallelism in Bardet-Biedl syndrome (English)

1 reference

19 October 2017

Bardet-Biedl syndrome

1 reference

23

Fowzan S Alkuraya

1 reference

19 October 2017

20

Lihadh Al-Gazali

1 reference

19 October 2017

19

Arif O Khan

1 reference

19 October 2017

Leen Abu-Safieh

1

1 reference

19 October 2017

Shamsa Al-Anazi

2

1 reference

19 October 2017

Lama Al-Abdi

3

1 reference

19 October 2017

Mais Hashem

4

1 reference

19 October 2017

Hisham Alkuraya

5

1 reference

19 October 2017

Mushari Alamr

6

1 reference

19 October 2017

Mugtaba O Sirelkhatim

7

1 reference

19 October 2017

Zuhair Al-Hassnan

8

1 reference

19 October 2017

Basim Alkuraya

9

1 reference

19 October 2017

Jawahir Y Mohamed

10

1 reference

19 October 2017

Ahmad Al-Salem

11

1 reference

19 October 2017

May Alrashed

12

1 reference

19 October 2017

Eissa Faqeih

13

1 reference

19 October 2017

Ameen Softah

14

1 reference

19 October 2017

Amal Al-Hashem

15

1 reference

19 October 2017

Sami Wali

16

1 reference

19 October 2017

Zuhair Rahbeeni

17

1 reference

19 October 2017

Moeen Alsayed

18

1 reference

19 October 2017

Peter E M Taschner

21

1 reference

19 October 2017

Selwa Al-Hazzaa

22

1 reference

19 October 2017

22 February 2012

1 reference

European Journal of Human Genetics

19 October 2017

1 reference

19 October 2017

20

1 reference

19 October 2017

4

1 reference

19 October 2017

420-427

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2011.205

19 October 2017

0 references

cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

Homozygosity mapping: one more tool in the clinical geneticist's toolbox

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

Molecular characterization of retinitis pigmentosa in Saudi Arabia

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

The nonmotile ciliopathies

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

Assembly of primary cilia

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

A pair of siblings with adiposo-genital dystrophy. 1922.

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

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

26 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

Triallelic inheritance: a bridge between Mendelian and multifactorial traits

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome.

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

Genetic complexity in single gene diseases

17 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3306854

17 August 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2011.205

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.205

Clinical, biochemical and molecular characterization of peroxisomal diseases in Arabs

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.205

Craniofacial syndromes: no such thing as a single gene disease

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22353939

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

No evidence for triallelic inheritance of MKKS/BBS loci in Amish Mckusick-Kaufman syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22353939

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22353939

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2011.205

1 reference

Dimensions Publication ID

19 October 2017

0 references

1 reference

19 October 2017

1 reference