(Q50504866)

14 March 2018

review article

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title

Alström syndrome. Report of 22 cases and literature review. (English)

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14 March 2018

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Peter Theodore Clayton

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ORCID Public Data File 2021

author name string

Russell-Eggitt IM

1

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14 March 2018

Clayton PT

2

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14 March 2018

Coffey R

3

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14 March 2018

Kriss A

4

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14 March 2018

Taylor DS

5

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14 March 2018

Taylor JF

6

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14 March 2018

publication date

1 July 1998

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14 March 2018

published in

Ophthalmology

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14 March 2018

volume

105

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14 March 2018

issue

7

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14 March 2018

page(s)

1274-1280

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14 March 2018

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

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7 January 2021

Familial syndrome of primary testicular insufficiency with normal virilization, blindness, deafness and metabolic abnormalities

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7 January 2021

The Alström syndrome: ophthalmic histopathology and retinal ultrastructure

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Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor.

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Late onset dilated cardiomyopathy in a unique familial syndrome of hypogonadism and metabolic abnormalities

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Alstrom's syndrome: further evidence of autosomal recessive inheritance and endocrinological dysfunction

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Hepatic dysfunction in Alström disease

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7 January 2021

Longitudinal study of the early electroretinographic changes in Alström's syndrome.

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A case of Alström syndrome associated with diabetes insipidus

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7 January 2021

Impaired glucose tolerance leads to delayed diagnosis of Alström syndrome

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7 January 2021

DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome

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7 January 2021

Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy.

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7 January 2021

Homozygosity mapping at Alström syndrome to chromosome 2p

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Cochlear and retinal degeneration in the tubby mouse

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7 January 2021

A candidate gene for the mouse mutation tubby

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7 January 2021

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

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Leber's congenital amaurosis--a new syndrome with a cardiomyopathy

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7 January 2021

Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis

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7 January 2021

Patterns of rod and cone dysfunction in Bardet-Biedl syndrome

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7 January 2021

Natural course of visual functions in the Bardet-Biedl syndrome

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7 January 2021

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

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7 January 2021

Visual acuities and dark-adapted thresholds of children with Bardet-Biedl syndrome

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7 January 2021

The importance of renal impairment in the natural history of Bardet-Biedl syndrome

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7 January 2021

Cardiac abnormalities in the Bardet-Biedl syndrome: echocardiographic studies of 22 patients

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7 January 2021

Deafness and the Laurence-Moon-Biedl syndrome

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7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0161-6420%2898%2997033-6

7 January 2021

10.1016/S0161-6420(98)97033-6

Identifiers

DOI

1 reference

14 March 2018

1 reference

14 March 2018