(Q35238505)

7 August 2017

A gene for isolated congenital ptosis maps to a 3-cM region within 1p32-p34.1. (English)

1 reference

7 August 2017

0 references

1 reference

E C Engle

1

1 reference

7 August 2017

A E Castro

2

1 reference

7 August 2017

M E Macy

3

1 reference

7 August 2017

J H Knoll

4

1 reference

7 August 2017

A H Beggs

5

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 May 1997

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

60

1 reference

7 August 2017

5

1 reference

7 August 2017

1150-1157

1 reference

A Gene Map of the Human Genome

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712439

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712439

Muscles of a different 'color': the unusual properties of the extraocular muscles may predispose or protect them in neurogenic and myogenic disease

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712439

Linkage analysis in blepharophimosis-ptosis syndrome confirms localisation to 3q21-24

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712439

An STS-based map of the human genome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712439

Mapping a gene for congenital fibrosis of the extraocular muscles to the centromeric region of chromosome 12.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712439

Congenital fibrosis of the extraocular muscles (autosomal dominant congenital external ophthalmoplegia): genetic homogeneity, linkage refinement, and physical mapping on chromosome 12.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712439

Bilateral Duane's retraction syndrome. A clinical-pathologic case report

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712439

Strategies for multilocus linkage analysis in humans

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712439

Congenital ptosis. A new pedigree and classification

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712439

Chromosomal assignment of human YAC clones by fluorescence in situ hybridization: use of single-yeast-colony PCR and multiple labeling

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712439

Anatomical modification of the levator muscle of the eyelid in congenital ptosis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712439

An optimized Alu-PCR primer pair for human-specific amplification of YACs and somatic cell hybrids

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712439

Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712439

Blepharophimosis syndrome is linked to chromosome 3q.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712439

Unilateral Duane's retraction syndrome (Type 1).

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1712439

The genetic approach to hereditary congenital ptosis

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9150162

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC)

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9150162

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A gene for blepharophimosis-ptosis-epicanthus inversus syndrome maps to chromosome 3q23

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9150162

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMCID

1712439

1 reference

7 August 2017

1 reference