(Q35571911)

English

Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature

scientific article published on October 30, 2003

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Congenital diaphragmatic eventration and bilateral uretero-hydronephrosis in a patient with neonatal Marfan syndrome caused by a mutation in exon 25 of the FBN1 gene and review of the literature (English)

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

congenital disorder

0 references

Marfan syndrome

1 reference

based on heuristic

inferred from title

neonatal Marfan syndrome

1 reference

based on heuristic

inferred from title

diaphragmatic eventration

1 reference

based on heuristic

inferred from title

5

object named as

Anne De Paepe

0 references

Christine Verellen-Dumoulin

6

object named as

Christine Verellen-Dumoulin

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

author name string

Nicole Revencu

1

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Geneviève Quenum

2

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Thierry Detaille

3

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Gaston Verellen

4

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

language of work or name

1 reference

National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14586646

26 March 2024

publication date

30 October 2003

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

full work available at URL

http://link.springer.com/content/pdf/10.1007/s00431-003-1330-8.pdf

Portable Document Format

1 reference

10.1007/S00431-003-1330-8

https://api.crossref.org/works/10.1007/S00431-003-1330-8

26 March 2024

http://link.springer.com/article/10.1007/s00431-003-1330-8/fulltext.html

1 reference

10.1007/S00431-003-1330-8

https://api.crossref.org/works/10.1007/S00431-003-1330-8

26 March 2024

http://link.springer.com/content/pdf/10.1007/s00431-003-1330-8

1 reference

10.1007/S00431-003-1330-8

https://api.crossref.org/works/10.1007/S00431-003-1330-8

26 March 2024

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

163

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

1

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

33-37

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Congenital contractural arachnodactyly. A heritable disorder of connective tissue

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three novel fibrillin mutations in exons 25 and 27: classic versus neonatal Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel exon skipping mutation in the fibrillin-1 gene: Two 'hot spots' for the neonatal Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Solution structure of a pair of calcium-binding epidermal growth factor-like domains: implications for the Marfan syndrome and other genetic disorders

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NPS@: network protein sequence analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homo- and heterotypic fibrillin-1 and -2 interactions constitute the basis for the assembly of microfibrils

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel mutation of the fibrillin gene causing ectopia lentis

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hiatus/paraesophageal hernias in neonatal Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The clinical spectrum of congenital contractural arachnodactyly. A case with congenital heart disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Characterisation of four novel fibrillin-1 (FBN1) mutations in Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotype and phenotype analysis of 171 patients referred for molecular study of the fibrillin-1 gene FBN1 because of suspected Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Missense mutations of the fibrillin-1 gene in two Chinese patients with severe Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ten novel FBN2 mutations in congenital contractural arachnodactyly: delineation of the molecular pathogenesis and clinical phenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases.

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Revised genomic organization of FBN1 and significance for regulated gene expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Key residues involved in calcium-binding motifs in EGF-like domains

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Allelic variation in normal human FBN1 expression in a family with Marfan syndrome: a potential modifier of phenotype?

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Neonatal forms of Steinert's mytonic dystrophy]

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A point mutation creating an extra N-glycosylation site in fibrillin-1 results in neonatal Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A severe form of congenital contractural arachnodactyly in two newborn infants

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A recurring FBN1 gene mutation in neonatal Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cardiac anomalies complicating congenital contractural arachnodactyly

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ascertainment and severity of Marfan syndrome in a Scottish population

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Patterns of malformation in children with congenital diaphragmatic defects

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development

1 reference

https://pubmed.ncbi.nlm.nih.gov/14586646

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00431-003-1330-8

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

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