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Leber's congenital amaurosis: an update.
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
12615170
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12615170%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
review article
1 reference
stated in
Europe PubMed Central
title
Leber's congenital amaurosis: an update
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
12615170
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12615170%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
main subject
congenital disorder
0 references
author
Elisa Fazzi
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
12615170
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12615170%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
Barbara Scelsa
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
12615170
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12615170%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
author name string
Sabrina Giovanna Signorini
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
12615170
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12615170%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
Stefania Maria Bova
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
12615170
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12615170%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
Giovanni Lanzi
series ordinal
5
1 reference
stated in
Europe PubMed Central
PubMed ID
12615170
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12615170%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
publication date
1 January 2003
1 reference
stated in
Europe PubMed Central
PubMed ID
12615170
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12615170%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
published in
European Journal of Paediatric Neurology
1 reference
stated in
Europe PubMed Central
PubMed ID
12615170
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12615170%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
volume
7
1 reference
stated in
Europe PubMed Central
PubMed ID
12615170
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12615170%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
issue
1
1 reference
stated in
Europe PubMed Central
PubMed ID
12615170
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12615170%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
page(s)
13-22
1 reference
stated in
Europe PubMed Central
PubMed ID
12615170
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12615170%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
cites work
Leber congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Retinal dystrophy and macular coloboma
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ueber Retinitis pigmentosa und angeborene Amaurose
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mental retardation in amaurosis congenita of Leber.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Classification of congenital and early onset retinitis pigmentosa.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical and genetic heterogeneity in retinitis pigmentosa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leber's congenital amaurosis and RPE65.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Follow-up and diagnostic reappraisal of 75 patients with Leber's congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Eye-poking
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hyperopia in complicated Leber's congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
High hyperopia in Leber's congenital amaurosis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Macular colobomas in Leber's congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The infant with nystagmus, normal appearing fundi, but an abnormal ERG.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The natural history of Leber's congenital amaurosis. Age-related findings in 35 patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital Amaurosis of Retinal Origin (Leber)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Amaurosis congenita (Leber)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Retinal aplasia in association with macular coloboma, keratoconus and cataract.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Yellowish flecks in Leber's congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
[Infantile tapeto-retinal degeneration, Leber type, with marbled aspect of periphery of eye fundus]
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leber's congenital amaurosis. Retrospective review of 43 cases and a new fundus finding in two cases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leber's congenital amaurosis with marbelized fundus and juvenile nephronophthisis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Vision in Leber congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical spectrum of leber's congenital amaurosis in the second to fourth decades of life
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neurological abnormalities in congenital amaurosis of Leber. Review of 30 cases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leber's congenital amaurosis. Is mental retardation a frequent associated defect?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hypotonia in the Blind Child
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gross motor development and reach on sound as critical tools for the development of the blind child.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leber's congenital amaurosis. A retrospective study of 33 cases and a histopathological study of one case
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leber's congenital amaurosis. Relationship of structural CNS anomalies to psychomotor retardation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Joubert syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Behaviour of the alpha rhythm in electroencephalograms of visually impaired children
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Stereotyped behaviours in blind children.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Early social-emotional development in blind infants.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Juvenile Familial Nephropathy with Tapetoretinal Degeneration*
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hereditary renal dysplasia and blindness
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
FAMILIAL NEPHROPATHY WITH RETINITIS PIGMENTOSA; A NEW OCULORENAL SYNDROME IN ADULTS
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial nephropathy associatdd with retinitis pigmentosa, cerebellar ataxia and skeletal abnormalities
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tapetoretinal degeneration associated with recessively inherited medullary cystic disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leber's congenital amaurosis associated with familial juvenile nephronophthisis and cone-shaped epiphyses of the hands (the Saldino-Mainzer syndrome)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cone-Shaped Epiphyses (CSE) in Siblings with Hereditary Renal Disease and Retinitis Pigmentosa
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phalangeal cone shaped epiphysis of the hands (PhCSEH) and chronic renal disease - The conorenal syndromes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leber's congenital amaurosis--a new syndrome with a cardiomyopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital stationary night blindness presenting as Leber's congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Peroxisomal dysfunction in a boy with neurologic symptoms and amaurosis (Leber disease): clinical and biochemical findings similar to those observed in Zellweger syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leber's congenital amaurosis associated with mitochondrial dysfunction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A gene for Leber's congenital amaurosis maps to chromosome 17p
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in RPE65 cause Leber's congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Null RPGRIP1 alleles in patients with Leber congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the CRB1 gene cause Leber congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel locus for Leber congenital amaurosis on chromosome 14q24.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel locus for Leber congenital amaurosis maps to chromosome 6q
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Different functional outcome of RetGC1 and RPE65 gene mutations in Leber congenital amaurosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS1090-3798%2802%2900135-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S1090-3798(02)00135-6
1 reference
stated in
Europe PubMed Central
PubMed ID
12615170
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12615170%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
PubMed ID
12615170
1 reference
stated in
Europe PubMed Central
PubMed ID
12615170
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12615170%20AND%20SRC:MED&resulttype=core&format=json
retrieved
1 November 2019
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