(Q36360593)

13 August 2017

Autosomal dominant aniridia: probable linkage to acid phosphatase-1 locus on chromosome 2 (English)

1 reference

13 August 2017

1 reference

Ferrell RE

1

1 reference

13 August 2017

Chakravarti A

series ordinal

2

1 reference

13 August 2017

Hittner HM

series ordinal

3

1 reference

13 August 2017

Riccardi VM

series ordinal

4

1 reference

13 August 2017

language of work or name

English

0 references

publication date

1 March 1980

1 reference

Proceedings of the National Academy of Sciences of the United States of America

13 August 2017

1 reference

13 August 2017

77

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13 August 2017

3

1 reference

13 August 2017

1580-1582

1 reference

A CONSIDERATION OF ANIRIDIA, WITH A PEDIGREE.

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348540

ANIRIDIA, CEREBELLAR ATAXIA, AND OLIGOPHRENIA IN SIBLINGS.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348540

The Syndrome of Congenital Cerebellar Ataxia, Aniridia and Mental Retardation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348540

Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348540

Localization of human gene loci using spontaneous chromosome rearrangements in human-Chinese hamster somatic cell hybrids

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348540

The Aymara of Western Bolivia. IV. Gene frequencies for eight blood groups and 19 protein and erythrocyte enzyme systems

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348540

Aniridia Caused by a Heritable Chromosome 11 Deletion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348540

Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348540

A pedigree of aniridia with a discussion of germinal mosaicism in man

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348540

Familial aniridia with preserved ocular function

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348540

Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348540

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=348540

21 October 2018

1 reference

12 December 2020

On the manifestation types of aniridia with reference to a family in Schleswig-Holstein

1 reference

12 December 2020

The significance of atypical colobomata and defects of the iris for the diagnosis of the hereditary aniridia syndrome (author's transl)

1 reference

12 December 2020

A family study of aniridia

1 reference

12 December 2020

Analysis of crossingover in man

1 reference

12 December 2020

[Variability in the clinical manifestations of iris defect in 2 families with congenital aniridia.]

1 reference

12 December 2020

A simple scheme for the analysis of HLA linkages in pedigrees

1 reference

12 December 2020

CONTRIBUTION TO THE PROBLEMS OF HEREDITARY FACTORS IN IRIS COLOBOMA

1 reference

12 December 2020

Report of the committee on the genetic constitution of chromosomes 2, 3, 4, 5, 7, 8, 10, 11, and 12

1 reference

12 December 2020

Identifiers

DOI

10.1073/PNAS.77.3.1580

1 reference

13 August 2017

0 references

1 reference

13 August 2017

PubMed publication ID

6929510

1 reference