(Q35196800)

7 August 2017

Marfan syndrome: no evidence for heterogeneity in different populations, and more precise mapping of the gene (English)

1 reference

7 August 2017

1 reference

Kainulainen K

1

1 reference

7 August 2017

Steinmann B

2

1 reference

7 August 2017

Collins F

3

1 reference

7 August 2017

Dietz HC

4

1 reference

7 August 2017

Francomano CA

5

1 reference

7 August 2017

Child A

6

1 reference

7 August 2017

Kilpatrick MW

7

1 reference

7 August 2017

Brock DJ

8

1 reference

7 August 2017

Keston M

9

1 reference

7 August 2017

Pyeritz RE

10

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 September 1991

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

49

1 reference

7 August 2017

662-667

1 reference

7 August 2017

3

1 reference

The detection and estimation of linkage between the genes for elliptocytosis and the Rh blood type.

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683142

Marfan syndrome. Demonstration of abnormal elastin in aorta

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683142

Blot hybridisation analysis of genomic DNA

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683142

Segregation of all four major fibrillar collagen genes in the Marfan syndrome.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683142

Marfan Syndrome: Exclusion of genetic linkage to three major collagen genes

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683142

A mapped set of DNA markers for human chromosome 15.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683142

Exclusion of the alpha 2(I) and alpha 1(III) collagen genes as the mutant loci in a Marfan syndrome family.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683142

An exclusion map of Marfan syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683142

Deficient expression of the gene coding for decorin in a lethal form of Marfan syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683142

Unilateral microfibrillar abnormalities in a case of asymmetric Marfan syndrome

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683142

Cosegregation of elastin-associated microfibrillar abnormalities with the Marfan phenotype in families

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683142

Detection of specific sequences among DNA fragments separated by gel electrophoresis

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683142

Aortic aneurysm in Marfan's syndrome: changes in the ultrastructure and composition of collagen

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683142

The Marfan Syndrome: Diagnosis and Management

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683142

Marfan syndrome: abnormal alpha 2 chain in type I collagen

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683142

Strategies for multilocus linkage analysis in humans

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683142

International nosology of heritable disorders of connective tissue, Berlin, 1986

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683142

The Marfan Syndrome: A Deficiency in Chemically Stable Collagen Cross-Links

15 November 2018

1 reference

12 December 2020

Cell-free synthesis of hyaluronic acid in Marfan syndrome

1 reference

12 December 2020

The Marfan syndrome locus: confirmation of assignment to chromosome 15 and identification of tightly linked markers at 15q15-q21.3.

1 reference

12 December 2020

Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene

1 reference

12 December 2020

Regional assignments of three polymorphic DNA segments on human chromosome 15

1 reference

12 December 2020

Marfan syndrome: exclusion of genetic linkage to five genes coding for connective tissue components in the long arm of chromosome 2

1 reference

12 December 2020

Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome

1 reference

12 December 2020

Location on chromosome 15 of the gene defect causing Marfan syndrome

1 reference

12 December 2020

Identifiers

PMCID

1683142

1 reference

7 August 2017

1 reference