(Q24610755)

Kirk Mykytyn

1

0 references

Alessandro Iannaccone

Alessandro Iannaccone

11

0 references

Samuel G. Jacobson

Samuel G Jacobson

12

0 references

Edwin M. Stone

Edwin M Stone

20

0 references

Leslie G Biesecker

19

Leslie G Biesecker

0 references

Raoul Hennekam

16

Raoul C M Hennekam

0 references

Alan F Wright

14

Alan F Wright

0 references

Val C. Sheffield

21

Val C Sheffield

0 references

Heidi S Haines

6

Heidi L Haines

0 references

Darryl Y Nishimura

2

Darryl Y Nishimura

0 references

Alberto S Cornier

7

Alberto S Cornier

0 references

Rivka Carmi

10

Rivka Carmi

0 references

Richard G Weleber

13

Richard G Weleber

0 references

Güven Lüleci

17

Güven Lüleci

0 references

author name string

Gretel Beck

4

0 references

Kevin Bugge

5

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Gerald F Cox

8

0 references

Anne B Fulton

9

0 references

Ruth Riise

15

0 references

Sibel Berker-Karauzum

American Journal of Human Genetics

18

0 references

language of work or name

English

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publication date

February 2003

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published in

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volume

72

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issue

2

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page(s)

429-37

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

A fifth locus for Bardet-Biedl syndrome maps to chromosome 2q31

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

Identification of a Bardet-Biedl syndrome locus on chromosome 3 and evaluation of an efficient approach to homozygosity mapping

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

Mutations in MKKS cause Bardet-Biedl syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

Linkage of Bardet-Biedl syndrome to chromosome 16q and evidence for non-allelic genetic heterogeneity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

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

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

Bardet-Biedl syndrome is linked to DNA markers on chromosome 11q and is genetically heterogeneous.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=379234

Fast and sensitive silver staining of DNA in polyacrylamide gels

30 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12524598