(Q35798158)

10 August 2017

title

Abnormal morphology of fibrillin microfibrils in fibroblast cultures from patients with neonatal Marfan syndrome (English)

1 reference

10 August 2017

M Godfrey

1

1 reference

10 August 2017

M Raghunath

2

1 reference

10 August 2017

J Cisler

3

1 reference

10 August 2017

C L Bevins

4

1 reference

10 August 2017

A DePaepe

5

1 reference

10 August 2017

M Di Rocco

6

1 reference

10 August 2017

J Gregoritch

7

1 reference

10 August 2017

K Imaizumi

8

1 reference

10 August 2017

P Kaplan

9

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10 August 2017

Y Kuroki

10

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10 August 2017

language of work or name

English

0 references

publication date

1 June 1995

1 reference

The American Journal of Pathology

10 August 2017

published in

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10 August 2017

volume

146

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10 August 2017

issue

6

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10 August 2017

page(s)

1414-1421

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

10 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

Severe neonatal Marfan syndrome resulting from a de novo 3-bp insertion into the fibrillin gene on chromosome 15.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

Prenatal diagnosis and a donor splice site mutation in fibrillin in a family with Marfan syndrome.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

Recurrent mis-splicing of fibrillin exon 32 in two patients with neonatal Marfan syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

[Fatal Marfan syndrome in the neonatal period]

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

Severe perinatal Marfan syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

Diagnosis and management of infantile marfan syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

Marfan phenotype variability in a family segregating a missense mutation in the epidermal growth factor-like motif of the fibrillin gene

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

Genetic heterogeneity in osteogenesis imperfecta

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

Two-dimensional and Doppler echocardiographic and pathologic characteristics of the infantile Marfan syndrome.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1870897

Cardiac Manifestations of Marfan Syndrome in Infancy and Childhood

25 September 2018

1 reference

12 December 2020

Congenital contractural arachnodactyly. A heritable disorder of connective tissue

1 reference

12 December 2020

Marfan syndrome with contractural arachnodactyly and severe mitral regurgitation in a premature infant

1 reference

12 December 2020

Early cardiac manifestations of Marfan's syndrome in the newborn

1 reference

12 December 2020

The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age

1 reference

12 December 2020

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

1 reference

12 December 2020

Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblasts

1 reference

12 December 2020

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

12 December 2020

Clustering of fibrillin (FBN1) missense mutations in Marfan syndrome patients at cysteine residues in EGF-like domains

1 reference

12 December 2020

Lethal tricuspid and mitral regurgitation in Marfan's syndrome∗

1 reference

12 December 2020

Congenital Marfan syndrome

1 reference

12 December 2020

Identifiers

PMC publication ID

1870897

1 reference

10 August 2017

1 reference