(Q24534394)

English

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

5 July 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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

Bardet-Biedl syndrome

1 reference

based on heuristic

inferred from title

Bardet-Biedl syndrome 1

1 reference

based on heuristic

inferred from title

Nicholas Katsanis

1

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

author name string

R A Lewis

2

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

D W Stockton

3

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

P M Mai

4

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

L Baird

5

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

P L Beales

6

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

M Leppert

7

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

J R Lupski

8

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

language of work or name

0 references

publication date

1 December 1999

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

American Journal of Human Genetics

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

65

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

6

1 reference

Europe PubMed Central

PubMed publication ID

5 July 2017

1672-1679

1 reference

Europe PubMed Central

PubMed publication ID

5 July 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=1288378

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=1288378

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=1288378

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=1288378

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=1288378

24 March 2017

Bardet-Biedl and Laurence-Moon syndromes in a mixed Arab population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288378

24 March 2017

A novel locus for Leber congenital amaurosis on chromosome 14q24.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288378

27 September 2017

A physical map of 30,000 human genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288378

27 September 2017

A sequence-ready high-resolution physical map of the best macular dystrophy gene region in 11q12-q13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288378

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=1288378

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=1288378

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=1288378

27 September 2017

A 2.8-Mb clone contig of the multiple endocrine neoplasia type 1 (MEN1) region at 11q13.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288378

30 May 2018

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=1288378

30 May 2018

Mapping recessive ophthalmic diseases: linkage of the locus for Usher syndrome type II to a DNA marker on chromosome 1q.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288378

30 May 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=1288378

29 November 2018

Linkage analysis and family classification under heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577921

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A 3-Mb sequence-ready contig map encompassing the multiple disease gene cluster on chromosome 11q13.1-q13.3.

1 reference

https://pubmed.ncbi.nlm.nih.gov/10577921

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

1 reference

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

ResearchGate publication ID

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