(Q33592428)

28 July 2017

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

1 reference

28 July 2017

1 reference

Donnai D

1

1 reference

28 July 2017

Mountford RC

series ordinal

2

1 reference

28 July 2017

Read AP

series ordinal

3

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 February 1988

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

25

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28 July 2017

2

1 reference

28 July 2017

73-78

1 reference

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015446

Norrie's disease (hereditary oculo-acoustic-cerebral degeneration). Report of a United States 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=1015446

Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015446

Report of the Committee on the Genetic Constitution of the X and Y Chromosomes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015446

Further linkage data on 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=1015446

Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by 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=1015446

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=1015446

A presumptive new variant 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=1015446

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1015446

Norrie's disease: close linkage with genetic markers from the proximal short arm of the X chromosome

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/3162283

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

0 references

1 reference

28 July 2017

1 reference