(Q33677788)

28 July 2017

Double mutant fibrillin-1 (FBN1) allele in a patient with neonatal Marfan syndrome (English)

1 reference

28 July 2017

1 reference

1 reference

neonatal Marfan syndrome

1 reference

M Wang

1

1 reference

28 July 2017

P Kishnani

2

1 reference

28 July 2017

M Decker-Phillips

3

1 reference

28 July 2017

S G Kahler

4

1 reference

28 July 2017

Y T Chen

5

1 reference

28 July 2017

M Godfrey

6

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 September 1996

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

33

1 reference

28 July 2017

760-763

1 reference

28 July 2017

9

1 reference

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

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050731

A novel mutation of the fibrillin gene causing ectopia lentis

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050731

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050731

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050731

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050731

A new missense mutation of fibrillin in a patient with Marfan syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050731

A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotype.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050731

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050731

A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050731

A mutation in FBN1 disrupts profibrillin processing and results in isolated skeletal features of the Marfan syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050731

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050731

Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050731

The cystic fibrosis transmembrane conductance regulator gene

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050731

Complex alleles of the acid beta-glucosidase gene in Gaucher disease

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050731

Diagnosis and management of infantile marfan syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050731

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050731

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050731

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050731

Two-dimensional and Doppler echocardiographic and pathologic characteristics of the infantile 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=1050731

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

30 October 2018

1 reference

12 December 2020

Early cardiac manifestations of Marfan's syndrome in the newborn

1 reference

12 December 2020

The skipping of constitutive exons in vivo induced by nonsense mutations

1 reference

12 December 2020

A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator

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

A novel fibrillin mutation in the Marfan syndrome which could disrupt calcium binding of the epidermal growth factor-like module

1 reference

12 December 2020

A mutation in CFTR produces different phenotypes depending on chromosomal background

1 reference

12 December 2020

Mutation screening of complete fibrillin-1 coding sequence: report of five new mutations, including two in 8-cysteine domains

1 reference

12 December 2020

Missense mutations impair intracellular processing of fibrillin and microfibril assembly in Marfan syndrome

1 reference

12 December 2020

Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients

1 reference

12 December 2020

Mutant p53 proteins behave in a dominant, negative fashion in vivo

1 reference

12 December 2020

Double mutant alleles: are they rare?

1 reference

12 December 2020

Lethal tricuspid and mitral regurgitation in Marfan's syndrome∗

1 reference

12 December 2020

Cardiac Manifestations of Marfan Syndrome in Infancy and Childhood

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.33.9.760

1 reference

28 July 2017

1 reference

28 July 2017

1 reference