(Q33677345)

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Marfan syndrome.

scientific article

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scholarly article

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

Marfan syndrome. (English)

1 reference

Europe PubMed Central

28 July 2017

author name string

Gray JR

1

1 reference

Europe PubMed Central

28 July 2017

Davies SJ

2

1 reference

Europe PubMed Central

28 July 2017

language of work or name

0 references

publication date

1 May 1996

1 reference

Europe PubMed Central

28 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

28 July 2017

33

1 reference

Europe PubMed Central

28 July 2017

5

1 reference

Europe PubMed Central

28 July 2017

403-408

1 reference

Europe PubMed Central

28 July 2017

Four novel FBN1 mutations: significance for mutant transcript level and EGF-like domain calcium binding in the pathogenesis of Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

Ascertainment and severity of Marfan syndrome in a Scottish population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

Mutations in the fibrillin gene responsible for dominant ectopia lentis and neonatal Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

Differential allelic expression of a fibrillin gene (FBN1) in patients with Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

Structure of the human gene encoding the associated microfibrillar protein (MFAP1) and localization to chromosome 15q15-q21.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

A second locus for Marfan syndrome maps to chromosome 3p24.2-p25.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

Pneumothorax in the Marfan syndrome: prevalence and therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

Abraham Lincoln, the famous case of Marfan's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

Fibrillin, a new 350-kD glycoprotein, is a component of extracellular microfibrils

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

Dural ectasia is a common feature of the Marfan syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

Relation of mitral valve prolapse to left ventricular size in Marfan's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

Two-dimensional echocardiographic aortic root dimensions in normal children and adults

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

Clinical manifestations of the Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

Purification and partial characterization of fibrillin, a cysteine-rich structural component of connective tissue microfibrils

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

Marfan syndrome in a large family: response of family members to a screening programme

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

The Marfan Syndrome: Diagnosis and Management

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

21 June 2018

Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

28 July 2018

The natural history of aortic dilatation in Marfan syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

30 October 2018

Life expectancy in the Marfan syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

30 October 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050611

30 October 2018

Carpal ligamentous laxity with bilateral perilunate dislocation in Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8733052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Histopathology of Striae Distensae, with Special Reference to Striae and Wound Healing in the Marfan Syndrome*

1 reference

https://pubmed.ncbi.nlm.nih.gov/8733052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/8733052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Life Expectancy and Causes of Death in the Marfan Syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8733052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Growth and anthropometrics in the Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8733052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Marfan's syndrome (arachnodactyly)

1 reference

https://pubmed.ncbi.nlm.nih.gov/8733052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mitral valve dysfunction in the Marfan syndrome. Clinical and echocardiographic study of prevalence and natural history

1 reference

https://pubmed.ncbi.nlm.nih.gov/8733052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rare Cases, with Practical Remarks.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8733052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Location on chromosome 15 of the gene defect causing Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8733052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/8733052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Surgical treatment of aneurysms of the ascending aorta in the Marfan syndrome. Results of composite-graft repair in 50 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/8733052

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.33.5.403

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

1 reference

Europe PubMed Central

28 July 2017

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