(Q35889026)

10 August 2017

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

1 reference

10 August 2017

1 reference

neonatal Marfan syndrome

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D M Milewicz

1

1 reference

10 August 2017

M Duvic

series ordinal

2

1 reference

10 August 2017

language of work or name

English

0 references

publication date

1 March 1994

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American Journal of Human Genetics

10 August 2017

1 reference

10 August 2017

54

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10 August 2017

3

1 reference

10 August 2017

447-453

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

10 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918129

Fibrillin Binds Calcium and Is Coded by cDNAs That Reveal a Multidomain Structure and Alternatively Spliced Exons at the 5′ End

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918129

The lin-12 locus specifies cell fates in Caenorhabditis elegans

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918129

"New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918129

Acid-dependent ligand dissociation and recycling of LDL receptor mediated by growth factor homology region

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918129

Mutations altering the structure of epidermal growth factor-like coding sequences at the Drosophila Notch locus

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918129

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=1918129

Connective tissue microfibrils. Isolation and characterization of three large pepsin-resistant domains of fibrillin.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918129

Functional inactivation of genes by dominant negative mutations

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918129

Contractural arachnodactyly with mitral regurgitation and iridodonesis

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918129

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=1918129

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918129

Specific EGF repeats of Notch mediate interactions with Delta and serrate: Implications for notch as a multifunctional receptor

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918129

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=1918129

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=1918129

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=1918129

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=1918129

Tyrosine 67 in the epidermal growth factor-like domain of tissue-type plasminogen activator is important for clearance by a specific hepatic receptor

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918129

The Marfan Syndrome: Diagnosis and Management

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918129

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=1918129

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1918129

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

14 November 2018

1 reference

12 December 2020

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

12 December 2020

Congenital contractural arachnodactyly. A heritable disorder of connective tissue

1 reference

12 December 2020

Early cardiac manifestations of Marfan's syndrome in the newborn

1 reference

12 December 2020

Pulmonary emphysema in a neonate with Marfan syndrome

1 reference

12 December 2020

The solution structure of human epidermal growth factor

1 reference

12 December 2020

Partial sequence of a candidate gene for the Marfan syndrome

1 reference

12 December 2020

Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1

1 reference

12 December 2020

Identifiers

1 reference

10 August 2017

PubMed publication ID

8116614

1 reference