(Q35438112)

8 August 2017

National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology (English)

1 reference

8 August 2017

Veronica van Heyningen

5

1 reference

8 August 2017

D Morrison

1

1 reference

8 August 2017

D FitzPatrick

2

1 reference

8 August 2017

I Hanson

3

1 reference

8 August 2017

K Williamson

4

1 reference

8 August 2017

B Fleck

6

1 reference

8 August 2017

I Jones

7

1 reference

8 August 2017

J Chalmers

8

1 reference

8 August 2017

H Campbell

9

1 reference

8 August 2017

language of work or name

English

0 references

publication date

1 January 2002

1 reference

Journal of Medical Genetics

8 August 2017

1 reference

8 August 2017

39

1 reference

8 August 2017

1

1 reference

8 August 2017

16-22

1 reference

Regulation of left-right asymmetry by thresholds of Pitx2c activity

8 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734963

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734963

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734963

Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734963

The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734963

Geographical variation in anophthalmia and microphthalmia in England, 1988-94

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734963

A locus for autosomal recessive congenital microphthalmia maps to chromosome 14q32.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734963

Denaturing high performance liquid chromatography (DHPLC) used in the detection of germline and somatic mutations

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734963

Dominant coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734963

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734963

Simple segregation analysis: a review of its history and terminology

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734963

Linkage strategies for genetically complex traits. II. The power of affected relative pairs

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734963

The ?singles? method for segregation analysis under incomplete ascertainment

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734963

Genetic counseling in cases of microphthalmos and anophthalmos

12 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11826019

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A note on the effects of method of ascertainment on segregation ratios

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11826019

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.39.1.16

1 reference

8 August 2017

1 reference

8 August 2017

1 reference