(Q34144412)

31 July 2017

0 references

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

1 reference

colobomatous microphthalmia

31 July 2017

1 reference

Morlé L

1

1 reference

31 July 2017

Bozon M

2

1 reference

31 July 2017

Zech JC

3

1 reference

31 July 2017

Alloisio N

4

1 reference

31 July 2017

Raas-Rothschild A

5

1 reference

31 July 2017

Philippe C

6

1 reference

31 July 2017

Lambert JC

7

1 reference

31 July 2017

Godet J

8

1 reference

31 July 2017

Plauchu H

9

1 reference

31 July 2017

Edery P

10

1 reference

31 July 2017

language of work or name

English

0 references

publication date

13 October 2000

1 reference

American Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

67

1 reference

31 July 2017

6

1 reference

31 July 2017

1592-1597

1 reference

Human microphthalmia associated with mutations in the retinal homeobox gene CHX10

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Large genomic duplicons map to sites of instability in the Prader-Willi/Angelman syndrome chromosome region (15q11-q13).

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Compiling a national register of babies born with anophthalmia/microphthalmia in England 1988-94

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

5 July 2018

PAX6 mutations reviewed

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Transcription factor genes and the developing eye: a genetic perspective

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Epithelial expression and chromosomal location of human TLE genes: implications for notch signaling and neoplasia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Genomic structure of the human PAX2 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Genetic aspects of embryonic eye development in vertebrates

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

A comprehensive genetic map of the human genome based on 5,264 microsatellites

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Cytogenetic and molecular cytogenetic studies of a case of interstitial deletion of proximal 15q.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Classification of microphthalmos and coloboma

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Severe microphthalmia, diaphragmatic hernia and Fallot's tetralogy associated with a chromosome 1;15 translocation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Regional localization of human chromosome 15 loci

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Autosomal dominant simple microphthalmos

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Autosomal dominant simple microphthalmos: incomplete penetrance and variable expression in a large family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Easy calculations of lod scores and genetic risks on small computers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Corneal involvement in autosomal dominant coloboma/microphthalmos

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Clinical features in a de novo interstitial deletion 15q13 to q15.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

A de novo interstitial deletion of 15(q21.2q22.1) in a moderately retarded adult male

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Microphthalmos and anterior segment dysgenesis in a family

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Developmental eye disease--a genome era paradigm.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Molecular regulators involved in vertebrate eye development.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Congenital eye malformations: clinical-epidemiological analysis of 1,124,654 consecutive births in Spain

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Autosomal recessive colobomatous microphthalmia

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1287937

Heredofamilial bilateral anophthalmia

9 December 2018

1 reference

12 December 2020

1 reference

12 December 2020

Isolated "clinical anophthalmia" in an extensively affected Arab kindred

1 reference

12 December 2020

Simple microphthalmos

1 reference

12 December 2020

Dinucleotide repeat polymorphism in the human aniridia (PAX6) gene

1 reference

12 December 2020

Unexpected familial recurrence of iris coloboma. A delayed mutation mechanism?

1 reference

12 December 2020

Mammalian hairy and Enhancer of split homolog 1 regulates differentiation of retinal neurons and is essential for eye morphogenesis

1 reference

12 December 2020

Identifiers

DOI

10.1086/316894

1 reference

31 July 2017

1 reference

31 July 2017

1 reference