(Q33677139)

28 July 2017

title

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

1 reference

28 July 2017

Seller MJ

1

1 reference

28 July 2017

Pal K

2

1 reference

28 July 2017

Horsley S

3

1 reference

28 July 2017

Davies AF

4

1 reference

28 July 2017

Berry AC

5

1 reference

28 July 2017

Meredith R

6

1 reference

28 July 2017

McCartney AC

7

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 July 1995

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

32

1 reference

28 July 2017

issue

7

1 reference

28 July 2017

page(s)

557-560

1 reference

X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050552

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050552

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050552

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050552

The molecular biology of Norrie's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050552

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050552

Norrie disease resulting from a gene deletion: clinical features and DNA studies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050552

Norrie disease caused by a gene deletion allowing carrier detection and prenatal diagnosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050552

The ocular pathology of Norrie disease in a fetus of 11 weeks' gestational age

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050552

Mutations in the candidate gene for Norrie disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050552

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050552

Isolation of a candidate gene for Norrie disease by positional cloning

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050552

The human PAX6 gene is mutated in two patients with aniridia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050552

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050552

Doyne Memorial Lecture, 1979. Retinal malformations: aetiological heterogeneity and morphological similarity in congenital retinal non-attachment and falciform folds

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050552

Inversion (X)(p11.4q22) associated with Norrie disease in a four generation family.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050552

THE LYON-BEUTLER HYPOTHESIS AND ISOCHROMOSOME X PATIENTS WITH TURNER SYNDROME

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7562972

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

X-autosome translocations: cytogenetic characteristics and their consequences

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7562972

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

In-utero diagnosis of Norrie disease by ultrasonography

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/7562972

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.32.7.557

1 reference

28 July 2017

1 reference

28 July 2017

1 reference