(Q51969814)

19 April 2018

title

Evolution of ocular clinical and electrophysiological findings in pediatric Bardet-Biedl syndrome. (English)

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19 April 2018

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Bardet-Biedl syndrome

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4

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19 April 2018

Uberto Pozzoli

5

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19 April 2018

author name string

E Spaggiari

1

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19 April 2018

R Salati

2

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19 April 2018

P Nicolini

3

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19 April 2018

F Polenghi

6

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19 April 2018

publication date

1 January 1999

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19 April 2018

International Ophthalmology

published in

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19 April 2018

volume

23

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19 April 2018

issue

2

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19 April 2018

page(s)

61-67

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19 April 2018

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

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

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12 December 2020

Macular lesions associated with retinitis pigmentosa

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

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A pair of siblings with adiposo-genital dystrophy. 1922.

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

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Four cases of "retinitis pigmentosa" occurring in the same family, and accompanied by general imperfections of development. 1866.

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

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Bardet-Biedl syndrome and related disorders

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

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12 December 2020

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

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Progressive cone-rod degeneration

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12 December 2020

On congenital obesity syndrome with polydactyly and retinitis pigmentosa (a contribution to the study of clinical forms of hypophyseal obesity). 1920.

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

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12 December 2020

Comparison of visual acuity measured with Allen figures and Snellen letters using the B-VAT II monitor

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12 December 2020

The association of retinitis pigmentosa with preretinal macular gliosis

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12 December 2020

Early diagnosis of Bardet-Biedl syndrome

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12 December 2020

The ocular phenotype of the Bardet-Biedl syndrome. Comparison to non-syndromic retinitis pigmentosa

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12 December 2020

Electroretinographic alterations in the Laurence-Moon-Bardet-Biedl phenotype

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12 December 2020

Ocular findings in the Laurence-Moon-Bardet-Biedl syndrome

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12 December 2020

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

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Practical notes: presentation of vision tests

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12 December 2020

Laurence-Moon-Biedl syndrome. Report of two unrelated children less than 3 years of age.

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12 December 2020

Visual function in Laurence-Moon-Bardet-Biedl syndrome. A survey of 26 cases

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The Laurence-Moon-Biedl syndrome. Six cases of obesity, short stature, mental retardation, small genitalia, and retinitis pigmentosa

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12 December 2020

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

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12 December 2020

Identifiers

DOI

10.1023/A:1026560721525

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19 April 2018

Dimensions Publication ID

1025196142

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19 April 2018