(Q51991723)

19 April 2018

title

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

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19 April 2018

main subject

Bardet-Biedl syndrome

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1

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19 April 2018

author name string

Woods MO

2

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19 April 2018

Parfrey PS

3

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19 April 2018

Green JS

4

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19 April 2018

O'Leary E

5

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19 April 2018

Hefferton D

6

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19 April 2018

Davidson WS

7

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19 April 2018

publication date

1 August 1998

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19 April 2018

American Journal of Medical Genetics Part A

published in

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19 April 2018

volume

78

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19 April 2018

issue

5

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19 April 2018

page(s)

461-467

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19 April 2018

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

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1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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Natural course of visual functions in the Bardet-Biedl syndrome

21 January 2018

1 reference

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Metacarpophalangeal Length in the Evaluation of Skeletal Malformation

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

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Metacarpophalangeal pattern profiles in the evaluation of skeletal malformations.

21 January 2018

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Intrafamilial variation of the phenotype in Bardet-Biedl syndrome

21 January 2018

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

21 January 2018

1 reference

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Bardet-Biedl syndrome and related disorders

21 January 2018

1 reference

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Avoiding recomputation in linkage analysis.

21 January 2018

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

21 January 2018

1 reference

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

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

21 January 2018

Identifiers

DOI

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19 April 2018

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19 April 2018