(Q34327023)

1 August 2017

title

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene (English)

1 reference

1 August 2017

Laurent Gouya

5

0 references

Catherine Boileau

Catherine Boileau

15

0 references

Philippe Aegerter

Philippe Aegerter

12

0 references

Mireille Claustres

11

Mireille Claustres

1 reference

1 August 2017

Gwenaëlle Collod-Béroud

2

Gwenaëlle Collod-Béroud

1 reference

1 August 2017

Chantal Stheneur

1

1 reference

1 August 2017

Laurence Faivre

3

1 reference

1 August 2017

Jean François Buyck

4

1 reference

1 August 2017

Jean-Marie Le Parc

6

1 reference

1 August 2017

Bertrand Moura

7

1 reference

1 August 2017

Christine Muti

8

1 reference

1 August 2017

Bernard Grandchamp

9

1 reference

1 August 2017

Gilles Sultan

10

1 reference

1 August 2017

Bertrand Chevallier

13

1 reference

1 August 2017

Guillaume Jondeau

14

1 reference

1 August 2017

publication date

18 March 2009

1 reference

European Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

17

1 reference

1 August 2017

issue

9

1 reference

1 August 2017

page(s)

1121-1128

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2009.36

1 August 2017

exact match

0 references

cites work

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=2986588

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

Molecular genetics of Marfan syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

Revised diagnostic criteria for the Marfan syndrome

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

Software and database for the analysis of mutations in the human FBN1 gene

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

Fibrillin binds calcium and is coded by cDNAs that reveal a multidomain structure and alternatively spliced exons at the 5' end

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

New Marfanoid syndrome with craniosynostosis

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

X-linked mental retardation with marfanoid habitus

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.36

Demonstration of the recurrence of Marfan-like skeletal and cardiovascular manifestations due to germline mosaicism for an FBN1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.36

Splicing mutation in the fibrillin-1 gene associated with neonatal Marfan syndrome and severe pulmonary emphysema with tracheobronchomalacia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.36

UMD (Universal Mutation Database): 2005 update

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.36

Detection of thirty novel FBN1 mutations in patients with Marfan syndrome or a related fibrillinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.36

Identification of 29 novel and nine recurrent fibrillin-1 (FBN1) mutations and genotype-phenotype correlations in 76 patients with Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.36

Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.36

Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.36

TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.36

Shprintzen-Goldberg syndrome: a clinical analysis

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986588

The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutations

27 October 2018

1 reference

12 December 2020

Eight novel mutations of the FBN1 gene found in Japanese patients with Marfan syndrome

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation screening of all 65 exons of the fibrillin-1 gene in 60 patients with Marfan syndrome: Report of 12 novel mutations

2 references

12 December 2020

https://api.crossref.org/works/10.1038%2FEJHG.2009.36

7 January 2021

inferred from DOI database lookup

Denaturing HPLC-identified novel FBN1 mutations, polymorphisms, and sequence variants in Marfan syndrome and related connective tissue disorders

1 reference

12 December 2020

Revised diagnostic criteria for the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.36

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2009.36

1 reference

1 August 2017

1 reference

1 August 2017

1 reference