(Q24536206)

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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

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Europe PubMed Central

PubMed publication ID

5 July 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

1 reference

based on heuristic

inferred from title

Bardet-Biedl syndrome

1 reference

based on heuristic

inferred from title

Nicholas Katsanis

2

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

author name string

P L Beales

1

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Europe PubMed Central

PubMed publication ID

5 July 2017

R A Lewis

3

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Europe PubMed Central

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5 July 2017

S J Ansley

4

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

N Elcioglu

5

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

J Raza

6

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

M O Woods

7

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

J S Green

8

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

P S Parfrey

9

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

W S Davidson

10

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Europe PubMed Central

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5 July 2017

J R Lupski

11

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Europe PubMed Central

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5 July 2017

language of work or name

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publication date

1 February 2001

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Europe PubMed Central

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5 July 2017

American Journal of Human Genetics

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Europe PubMed Central

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5 July 2017

68

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Europe PubMed Central

PubMed publication ID

5 July 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

606-616

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

24 March 2017

Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

24 March 2017

A founder effect in the newfoundland population reduces the Bardet-Biedl syndrome I (BBS1) interval to 1 cM

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

24 March 2017

Delineation of the critical interval of Bardet-Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

24 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

27 September 2017

Mutations in MKKS cause Bardet-Biedl syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

27 September 2017

Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

27 September 2017

Phenotypic differences among patients with Bardet-Biedl syndrome linked to three different chromosome loci.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

27 September 2017

The syndrome of Laurence-Moon-Bardet-Biedl and allied diseases in Switzerland. Clinical, genetic and epidemiological studies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

30 May 2018

High incidence of Bardet Biedl syndrome among the Bedouin.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

19 June 2018

Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1274474

29 November 2018

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Europe PubMed Central

PubMed publication ID

5 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

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