Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype. (Q51991723)

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scientific article published in August 1998

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English	Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.	scientific article published in August 1998

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Europe PubMed Central

PubMed publication ID

9714014

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19 April 2018

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http://europepmc.org/abstract/MED/9714014

title

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

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Europe PubMed Central

PubMed publication ID

9714014

retrieved

19 April 2018

reference URL

http://europepmc.org/abstract/MED/9714014

main subject

Bardet-Biedl syndrome

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author

Terry-Lynn Young

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1

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Europe PubMed Central

PubMed publication ID

9714014

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19 April 2018

reference URL

http://europepmc.org/abstract/MED/9714014

author name string

Woods MO

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2

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Europe PubMed Central

PubMed publication ID

9714014

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19 April 2018

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http://europepmc.org/abstract/MED/9714014

Parfrey PS

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3

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Europe PubMed Central

PubMed publication ID

9714014

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19 April 2018

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http://europepmc.org/abstract/MED/9714014

Green JS

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4

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PubMed publication ID

9714014

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19 April 2018

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http://europepmc.org/abstract/MED/9714014

O'Leary E

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5

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Europe PubMed Central

PubMed publication ID

9714014

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19 April 2018

reference URL

http://europepmc.org/abstract/MED/9714014

Hefferton D

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6

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PubMed publication ID

9714014

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19 April 2018

reference URL

http://europepmc.org/abstract/MED/9714014

Davidson WS

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7

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Europe PubMed Central

PubMed publication ID

9714014

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19 April 2018

reference URL

http://europepmc.org/abstract/MED/9714014

publication date

1 August 1998

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Europe PubMed Central

PubMed publication ID

9714014

retrieved

19 April 2018

reference URL

http://europepmc.org/abstract/MED/9714014

published in

American Journal of Medical Genetics Part A

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Europe PubMed Central

PubMed publication ID

9714014

retrieved

19 April 2018

reference URL

http://europepmc.org/abstract/MED/9714014

volume

78

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Europe PubMed Central

PubMed publication ID

9714014

retrieved

19 April 2018

reference URL

http://europepmc.org/abstract/MED/9714014

issue

5

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9714014

retrieved

19 April 2018

reference URL

http://europepmc.org/abstract/MED/9714014

page(s)

461-467

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PubMed publication ID

9714014

retrieved

19 April 2018

reference URL

http://europepmc.org/abstract/MED/9714014

cites work

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

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980806%2978%3A5%3C461%3A%3AAID-AJMG12%3E3.0.CO%3B2-D

retrieved

21 January 2018

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

1 reference

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Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980806%2978%3A5%3C461%3A%3AAID-AJMG12%3E3.0.CO%3B2-D

retrieved

21 January 2018

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

1 reference

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Crossref

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retrieved

21 January 2018

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

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21 January 2018

Natural course of visual functions in the Bardet-Biedl syndrome

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21 January 2018

Metacarpophalangeal Length in the Evaluation of Skeletal Malformation

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retrieved

21 January 2018

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

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21 January 2018

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

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retrieved

21 January 2018

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

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Crossref

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retrieved

21 January 2018

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

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21 January 2018

Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children

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21 January 2018

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

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Crossref

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21 January 2018

A simple salting out procedure for extracting DNA from human nucleated cells

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21 January 2018

Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.

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21 January 2018

Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

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21 January 2018

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

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21 January 2018

Bardet-Biedl syndrome and related disorders

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21 January 2018

Avoiding recomputation in linkage analysis.

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retrieved

21 January 2018

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

1 reference

stated in

Crossref

reference URL

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819980806%2978%3A5%3C461%3A%3AAID-AJMG12%3E3.0.CO%3B2-D

retrieved

21 January 2018

Identifiers

DOI

10.1002/(SICI)1096-8628(19980806)78:5<461::AID-AJMG12>3.0.CO;2-D

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9714014

retrieved

19 April 2018

reference URL

http://europepmc.org/abstract/MED/9714014

PubMed publication ID

9714014

1 reference

stated in

Europe PubMed Central

PubMed publication ID

9714014

retrieved

19 April 2018

reference URL

http://europepmc.org/abstract/MED/9714014

 

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