(Q35300227)

7 August 2017

title

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome (English)

1 reference

7 August 2017

main subject

Bardet-Biedl syndrome

1 reference

1 reference

Riise R

1

1 reference

7 August 2017

Andréasson S

2

1 reference

7 August 2017

Borgaström MK

3

1 reference

7 August 2017

Wright AF

4

1 reference

7 August 2017

Tommerup N

5

1 reference

7 August 2017

Rosenberg T

6

1 reference

7 August 2017

Tornqvist K

7

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 May 1997

1 reference

British Journal of Ophthalmology

7 August 2017

number of pages

8

1 reference

based on heuristic

inferred from page(s)

published in

1 reference

7 August 2017

volume

81

1 reference

7 August 2017

issue

5

1 reference

7 August 2017

page(s)

378-385

1 reference

Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on

7 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722198

Full-field electroretinograms in individuals with the Laurence-Mood-Bardet-Biedl syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722198

Skeletal abnormalities of hands and feet in Laurence-Moon-Bardet-Biedl (LMBB) syndrome: a radiographic study

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722198

Anomalies in the permanent dentition and other oral findings in 29 individuals with Laurence-Moon-Bardet-Biedl syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722198

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722198

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722198

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722198

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722198

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722198

Micropenis. I. Criteria, etiologies and classification.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722198

Bardet-Biedl syndrome and related disorders

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722198

Retinal and neurologic findings in the Laurence-Moon-Bardet-Biedl phenotype

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722198

Intrafamilial variation in Cohen syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722198

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722198

A family with the Bardet-Biedl syndrome and diabetes mellitus

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722198

A patient with features of both Bardet-Biedl and Alström syndromes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722198

Quadriparesis in the Laurence-Moon-Biedl-Bardet syndrome: case report

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722198

A new familial syndrome characterized by pigmentary retinopathy, hypogonadism, mental retardation, nerve deafness and glucose intolerance

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1722198

Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS Gene

12 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9227203

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Electrophysiological and eye-movement abnormalities in children with the Bardet-Biedl syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9227203

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/BJO.81.5.378

1 reference

7 August 2017

1 reference

7 August 2017

1 reference