Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin. (Q50512238)

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31 October 2019

title

Peripheral retinopathy in offspring of carriers of Norrie disease gene mutations. Possible transplacental effect of abnormal Norrin (English)

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31 October 2019

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H A Mintz-Hittner

1

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31 October 2019

R E Ferrell

2

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31 October 2019

K B Sims

3

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31 October 2019

K M Fernandez

4

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31 October 2019

B S Gemmell

5

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31 October 2019

D R Satriano

6

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31 October 2019

J Caster

7

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31 October 2019

F L Kretzer

8

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31 October 2019

publication date

1 December 1996

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31 October 2019

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31 October 2019

volume

103

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31 October 2019

issue

12

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31 October 2019

page(s)

2128-2134

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The Norrie disease gene maps to a 150 kb region on chromosome Xp11.3.

31 October 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2896%2930379-5

7 January 2021

Isolation and characterization of a candidate gene for Norrie disease

1 reference

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7 January 2021

Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins

1 reference

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7 January 2021

Characterization of a YAC containing part or all of the Norrie disease locus

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2896%2930379-5

7 January 2021

Molecular modelling of the Norrie disease protein predicts a cystine knot growth factor tertiary structure

1 reference

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7 January 2021

A structural superfamily of growth factors containing a cystine knot motif

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7 January 2021

The transforming growth factor-beta family

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7 January 2021

ABLATIO FALCIFORMIS CONGENITA (RETINAL FOLD).

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7 January 2021

Primary Retinal Dysplasia Transmitted as X-Chromosome-Linked Recessive Disorder

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7 January 2021

X‐Linked recessive primary retinal dysplasia: clinical findings in affected males and carrier females

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7 January 2021

X-linked recessive primary retinal dysplasia is linked to the Norrie disease locus

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7 January 2021

Mapping of the autosomal dominant exudative vitreoretinopathy locus (EVR1) by multipoint linkage analysis in four families

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7 January 2021

X-Linked Recessive Familial Exudative Vitreoretinopathy

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7 January 2021

X-linked familial exudative vitreoretinopathy (FEVR): results of DNA analysis with candidate genes

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7 January 2021

Mapping studies of an X-linked familial exudative vitreoretinopathy

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7 January 2021

Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy

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7 January 2021

Missense mutations in the NDP gene in patients with a less severe course of Norrie disease

1 reference

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7 January 2021

Identification of two new missense mutations (K58N and R121Q) in the Norrie disease (ND) gene in two Spanish families

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2896%2930379-5

7 January 2021

Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy

1 reference

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7 January 2021

X-linked exudative vitreoretinopathy caused by an arginine to leucine substitution (R121L) in the Norrie disease protein

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7 January 2021

X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis

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7 January 2021

A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy

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7 January 2021

Mutations in the Norrie disease gene

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7 January 2021

Postnatal retinal vascularization in former preterm infants with retinopathy of prematurity

1 reference

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7 January 2021

An interpretation of retinopathy of prematurity in terms of spindle cells: relationship to vitamin E prophylaxis and cryotherapy

1 reference

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7 January 2021

Prognostic factors in the natural course of retinopathy of prematurity. The Cryotherapy for Retinopathy of Prematurity Cooperative Group

1 reference

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7 January 2021

Characterization of a mutation within the NDP gene in a family with a manifesting female carrier

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2896%2930379-5

7 January 2021

Manifesting heterozygosity in Norrie's disease?

1 reference

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7 January 2021

Primary vitreoretinal dysplasia resembling Norrie's disease in a female: association with X autosome chromosomal translocation

1 reference

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7 January 2021

A fetus with an X;1 balanced reciprocal translocation and eye disease

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7 January 2021

10.1016/S0161-6420(96)30379-5

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9003348%20AND%20SRC:MED&resulttype=core&format=json

31 October 2019

1 reference