Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1) (Q24610755)

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Language	Label	Description	Also known as
English	Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)	scientific article

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instance of

scholarly article

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title

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

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main subject

Bardet-Biedl syndrome

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based on heuristic

inferred from title

author

Charles C Searby

object named as

Charles C Searby

series ordinal

3

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Kirk Mykytyn

object named as

Kirk Mykytyn

series ordinal

1

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Alessandro Iannaccone

object named as

Alessandro Iannaccone

series ordinal

11

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Samuel G. Jacobson

object named as

Samuel G Jacobson

series ordinal

12

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Edwin M. Stone

object named as

Edwin M Stone

series ordinal

20

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Leslie G Biesecker

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19

object named as

Leslie G Biesecker

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Raoul Hennekam

series ordinal

16

object named as

Raoul C M Hennekam

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Alan F Wright

series ordinal

14

object named as

Alan F Wright

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Val C. Sheffield

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21

object named as

Val C Sheffield

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Heidi S Haines

series ordinal

6

object named as

Heidi L Haines

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Darryl Y Nishimura

series ordinal

2

object named as

Darryl Y Nishimura

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Alberto S Cornier

series ordinal

7

object named as

Alberto S Cornier

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Rivka Carmi

series ordinal

10

object named as

Rivka Carmi

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Richard G Weleber

series ordinal

13

object named as

Richard G Weleber

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Güven Lüleci

series ordinal

17

object named as

Güven Lüleci

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author name string

Gretel Beck

series ordinal

4

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Kevin Bugge

series ordinal

5

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Gerald F Cox

series ordinal

8

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Anne B Fulton

series ordinal

9

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Ruth Riise

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15

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Sibel Berker-Karauzum

series ordinal

18

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language of work or name

English

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publication date

February 2003

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published in

American Journal of Human Genetics

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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

stated in

PubMed Central

reference URL

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

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

Mutations in MKKS cause Bardet-Biedl syndrome

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

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

retrieved

30 May 2018

Fast and sensitive silver staining of DNA in polyacrylamide gels

1 reference

stated in

PubMed

reference URL

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

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/346172

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PMC publication ID

379234

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PubMed publication ID

12524598

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ResearchGate publication ID

10952904

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